Antenatal Diagnosis And Management Of Renal Problems

R Bhimma
(M.B. Ch.B.; DCH (SA); FCP (Paeds) (SA); M. Med (Natal);
MD (Natal), ISN Fellowship (Toronto); Cert. of Paeds Nephrol (SA)

Associate Professor of Paediatrics, Department of Paediatrics and Child Health,
College of Health Sciences, Nelson R Mandela School of Medicine,
University of KwaZulu-Natal, South Africa

First Created: 01/05/2001  Last Updated: 04/04/2016


Advances in imaging techniques have made it possible to diagnose, and in several cases, treat fetal anomalies detected antenatally. Ultrasound (US) is the most commonly used prenatal screening modality that uses high-frequency sound waves to detect specific body parts and measure distances. Studies have shown lethal abnormalities are found in about 2% of all fetuses screened, with genitourinary (GU) anomalies being most common. All infants with GU anomalies diagnosed antenatally on the US should undergo postnatal US evaluation at birth and at 4-6 weeks of age. Further evaluation can be safely limited if US evaluation at 6 weeks of age is normal. This review will focus on the commonly diagnosed antenatal GU anomalies and management postnatally.

Antenatal Diagnosis and Management of Renal Problems - Introduction

Advances in imaging techniques have made it possible to diagnose, and in several cases, treat fetal anomalies detected antenatally. Ultrasound (US) is the most commonly used prenatal screening modality that uses high-frequency sound waves to detect specific body parts and measure distances that have been used since the 1970s.1 Studies have shown lethal abnormalities are found in about 2% of all fetuses screened, with genitourinary (GU) anomalies being most common.2,3,4 The most common GU anomalies detected on the antenatal US and the earliest trimester in which it can be detected are shown in Table 1. GU anomalies have an incidence of 1 to 4 in 1000 pregnancies5, representing 15-20% of all prenatally diagnosed congenital anomalies. On postnatal follow-up, about 60% of children having surgery for renal or urinary tract abnormalities in the first five years of life have been diagnosed antenatally.6

All infants with GU anomalies diagnosed antenatally on the US should undergo postnatal US evaluation at birth and at 4-6 weeks of age. Further evaluation can be safely limited if US evaluation at 6 weeks of age is normal.7 This review will focus on the commonly diagnosed antenatal GU anomalies and management postnatally.

Table 1: Earliest trimester in which the anomaly is detected.

Trimester of Prenatal Anomaly Identification
  1stTrimester(1-12 weeks) 2ndTrimester(13-27weeks) 3rdTrimester(28-40weeks)
Renal   Bilateral renal agenesis
Unilateral renal agenesis
Autosomal recessive polycystic kidney disease
Autosomal dominant polycystic kidney disease
Duplex Kidneys
Horseshoe Kidney
Cross fused renal ectopia
Fused Pelvic Kidney
Multicystic dysplastic Kidney
Renal hypoplasia
Pyelectasis/renal pelvic dilation
Mesoblastic Nephroma
Ureteral Anomalies   Ureterocele Ureter duplication
Ectopic ureter
Ureteropelvic junction obstruction
Vesicoureteral Reflux     Vesicoureteral reflux
Bladder Anomalies MMIHS
Patent Urachus
Menkes disease
Exstrophy Bladder diverticulum
Adapted with permission [1]

Renal Agenesis

Renal agenesis may be unilateral or bilateral; the latter is also known as Potters syndrome, Potters sequence, or oligohydramnios sequence, coined by the pathologist Edith Potter.8,9,10,11

Bilateral renal agenesis is the congenital absence of both kidneys and is incompatible with life in most cases as it is a lethal congenital anomaly.12 Bilateral renal agenesis can be detected by ultrasound after 16 weeks of gestation as severe oligohydramnios (markedly decreased amniotic fluid in the amniotic cavity) because at this stage fetal urine production is the main source of amniotic fluid production as compared to transmembrane flow in earlier gestation.13 The genetic aspects of this condition has not yet been fully investigated and the estimated incidence is 0.1 per 1000 live births.14 Maternal factors associated with bilateral renal agenesis include a body mass index greater than 30 kg/m² prior to pregnancy, smoking, and binge drinking particularly during the second month of pregnancy.15 Although serial amnioinfusions have been used to improve fetal pulmonary development, it is not an appropriate intervention in cases of severe renal agenesis.16,17

Bilateral renal agenesis may be associated with structural abnormalities in over 50% of cases including a variety of syndromes associated with chromosomal anomalies, caudal dysgenesis, and the VACTERL association (Vertebral anomalies, Anal atresia, Cardiac defects, tracheo-oesophageal fistula, Renal defects, and Limb defects).18 Crossed fused ectopic occurs when both kidneys fuse and are located on the same side of the midline. It occurs predominantly on the left side and in males.19 Most patients are asymptomatic. Complications include urinary tract infection, VUR, pelviureteric function obstruction, and urolithiasis. The estimated prevalence is in 2000 live births although this may be an underestimate due to many cases being asymptomatic.1

Unilateral agenesis is the congenital absence of one kidney and these patients usually have a normal lifespan unless there are co-existing renal anomalies that progress to end-stage kidney disease. These include ureterovesical junction obstruction, bladder dysfunction, vesicoureteric reflux (VUR), ureteropelvic junction obstruction, duplicated collecting system with severe reflux, and an ectopic kidney with severe reflux.1,20 These patients also have an increased risk of hypertension.21,22 This condition is more common than bilateral renal agenesis with an incidence of about 1 in 2000.21

Renal Hypoplasia

Renal hypoplasia is failure of the development of part of the kidneys with normal morphology but a decreased number of nephrons. The incident is about 1 in 400 live births and it can progress to end-stage kidney disease in childhood if bilateral and severe.1,23

Ectopic Kidney

The incidence of ectopic kidneys is about 1 per 1000 pregnancies.24,25 The commonest site is the pelvis. Other forms of renal ectopia include horseshoe kidneys, crossed (fused) ectopia, and intrathoracic kidney.25 Horseshoe kidney is the commonest type of renal fusion anomaly with an incidence of 1 in every 400 births and is more common in males.26 The mechanism of development is thought to be due to the fusion of birth kidney held by a fibrous isthmus during organogenesis. Alternatively, fusion may be due to abnormal migration of the parenchymatous isthmus, resulting in a teratogenic event.27,28 Although the majority of patients are asymptomatic when symptoms are present they include nausea, vomiting, recurrent episodes of urinary tract infection usually associated with reflux, and renal calculi with obstructive uropathy.29

Fused pelvic kidney results from failure of the kidney to ascend during fetal development and results in the kidney being fixed in the pelvis. It is also known as a pancake kidney.30,31


Renal malrotations are rare and the exact incidence unknown as patients are usually asymptomatic. The condition is sometimes known as abnormal renal rotation and is an anatomical variation in the position of the kidneys, particularly the orientation of the renal hilum.32

Solitary Kidney

A solitary kidney may be the result of complete renal agenesis of one kidney or involution of a dysplastic kidney.33 Associated abnormalities include VUR and obstruction (ureteropelvic junction or ureterovesical junction obstruction). Infants with normal post-natal ultrasound and solitary kidney do not require extensive imaging studies. However, if any abnormality is detected a voiding cystourethrogram and diuretic urography should be performed. These children must be monitored for the development of hypertension and for proteinuria as this predisposes to chronic kidney disease.34,35,36

A duplex kidney is when two pelvicalyceal systems drain a single kidney.37 This kidney usually is more elongated and contributes a higher percentage to total kidney function on split function renography.38 Postnatal care involves close monitoring for urinary tract infections to prevent loss of renal function as several of these children have severe VUR or some form of obstructive uropathy.39

Multicystic Kidney Disease

Multicystic kidney disease (MCKD) is characterized by the presence of non-communicating cysts of various sizes, lack of normal renal parenchyma, and atretic proximal ureters.7 The incidence is about 1 in 4300 live births.47 In 25-40% of cases, the contralateral kidney is also abnormal, reflux being the most frequently associated anomaly. Bilateral MCDK occurs in about 10-20% of cases and is a lethal condition.48 High-quality ultrasonography done antenatally is diagnostic of MCDK and only if the postnatal ultrasound suggests the possibility of function renal parenchyma should a dimercaptosuccinic acid (DMSA) scan be done.49,50 VUR in patients with unilateral MCDK and a normal contralateral kidney on postnatal ultrasonography is usually low grade and these patients can be managed conservatively without routine voiding cystourethrogram (VCUG) screening.51,52 Abnormalities of the contralateral kidney (hydronephrosis, small size, lack of corticomedullary differentiation, dilated ureter) should be investigated with a VCUG. If this is normal, a diuretic renogram should be performed.7 Families of patients with unilateral MCKD should be counseled on the signs and symptoms of UTI to allow prompt diagnosis and treatment.53 Infants with postnatal confirmed moderate or severe hydronephrosis (SPU 3-4, renal anteroposterior diameter >10 mm) or dilated ureter should receive antibiotic prophylaxis whilst awaiting evaluation. Those with VUR grade III-V should also receive antibiotic prophylaxis.54,55

MCKD is characterized by slowly progressive kidney disease due to interstitial fibrosis with progression to end-stage kidney disease in adulthood. This has an autosomal dominant pattern of inheritance. There are several gene defects that can result in MCKD: Type 1 MCKD is due to mutations in the MUC 1 gene resulting in excessive deposition of mucin 1 protein in the distal nephron; Type 2 is due to mutations in the UMOD gene resulting in a mutant form of uromodulin protein that cannot exit the endoplasmic reticulum and this results in abnormal accumulation of protein, which causes tubular cell death and chronic kidney disease.56,57

Polycystic Kidney Disease

Polycystic Kidney disease can occur in both adults and children. The term polycystic kidney disease is reserved for the following hereditary conditions.

  • Autosomal recessive polycystic kidney disease (ARPKD) characterized by cystic dilations of the renal collecting ducts and congenital hepatic fibrosis with an autosomal recessive pattern of inheritance.
  • Autosomal dominant polycystic Kidney disease (ADPKD) characterized by cystic dilations in all parts of the nephron with cysts in several other organs (e.g. liver, pancreas, spleen, and intestine) with an autosomal dominant pattern of inheritance.

ADPCK occurs in one in every 400-1000 live births and accounts for more than 5% of cases of end-stage kidney disease in Western countries.58 Mutations in the PKD1 gene (MIM 173900) account for 85% of cases. This gene is located on chromosome 16p13.3 and encodes for the polycystic 1 protein. Most other patients have a mutation in the PKD 2 gene (MIM *173910), which encodes polycystic 2 protein and is located on chromosome 4q21, involved in cell calcium signaling and localizes to the primary cilia of renal epithelial cells.59,60

The disease is rarely seen in fetal life. Prenatal ultrasound may show kidneys that are moderately enlarged (+1 -2SD) with hyperechoic cortex and hypoechoic medullar or absent or decreased corticomedullary differentiation, although in some cases ultrasonography may be normal.61 Most children with the condition are asymptomatic. Symptomatic children present similar to adults (gross or microscopic haematuria, hypertension, proteinuria, infection of cysts, urinary tract infection, abdominal, flank or back pain, and rarely, renal insufficiency).62,63,64

No specific treatment has been proven to prevent or delay progression to end-stage kidney disease. Promising therapies that are being tested in clinical trials include vasopressin receptor antagonists, mammalian target of rapamycin (mTOR), and rigorous control of blood pressure with angiotensin receptor blockers or antagonists with maximal inhibition of the renin-angiotensin receptor antagonists.65 Children with significant nephromegaly should avoid contact sport. The use of non-steroid anti-inflammatory drugs is discouraged because of the increased risk of hemorrhage into cysts. In patients who develop cysts infection, sulphonamides and ciprofloxacin are the antibiotics of choice as they have better cysts penetration and are effective against gram-negative bacteria that are the most frequent causative agents.66 Children diagnosed with ADPCKD are likely to preserve kidney function until the fourth decade of life. However symptomatic children may progress more rapidly to end-stage kidney disease.67

Autosomal recessive polycystic kidney disease (ARPKD) is caused by mutations in the PKHD1 gene located on chromosome 6p21. This gene encodes fibrocystic (polyductin), a large internal membrane protein (4074 amino acids), and has at least 66 exons.68,69 The gene is found on chromosome 6 and is expressed on the cilia of the renal and bile ducts.70 It is much less frequent than ADPKD with an estimated frequency if 1:20000 live births.71 Prenatally the condition can be detected after 24 weeks gestation. The characteristic finding is markedly enlarged echogenic kidneys with poor corticomedullary differentiation.72,73 Occasionally discreet cysts between 5-7 mm may defect. Cysts >10 mm are unusual and more compatible with a diagnosis of multicystic dysplasia. There if often concomitant oligohydramnios and the absence of urine in the fatal bladder.72,73 The absence of abnormal ultrasound findings does not exclude the diagnosis and similar findings may be present in other conditions associated with renal cysts. The presence of other system involvement usually suggests cystic disease associated with syndromic ciliopathies e.g. Bardet-Biedl and Jourbet syndromes. Ultrasound of both parents should be done to exclude ADPKD or HNF1B-related cystic kidney disease, both of which are autosomal dominant disorders.

Neonatal presentation varies from those with severe ARPKD associated with Potter syndrome and severe respiratory distress to those less severely affected with renal dysfunction but no signs of respiratory distress. The degree of pulmonary hypoplasia is the major determinate of compatibility of life even with mechanical ventilation.74,75 Patients with ARPKD who survive and on renal replacement therapy are at risk of hepatobiliary complications such as progressive portal hypertension, bacterial cholangitis, reduced level of fat-soluble vitamins, and increased risk of infection by the encapsulated organism (pneumococcus, hemophilic influenza type B, and meningococcus). Prophylactic immunization is advised.76,77

Renal Tumours

Renal tumors can be diagnosed at about 18-20 weeks gestation using ultrasound or fetal magnetic resonance imaging (MRI). The most common is mesoblastic nephroma (a renal stromal neoplasm) that represents 3-10% of all pediatric tumors.78 It usually accompanies oligohydramnios and has a favorable outcome following nephrectomy.79 Other tumors that may be diagnosed antenatally include Wilms tumor, rhabdoid tumor, clear cell sarcoma, hematomas (e.g. angiolipoma), and ossifying tumor of infancy.80

Ureteral Anomalies

The common ureteral abnormalities diagnosed antenatally are shown in Table 3.

a. Ectopic Ureter

Also known as ureteral ectopia, it is more common in females than males, resulting from abnormal migration of the ureteral bud during its insertion to the bladder. In males, the ectopic ureter may insert itself into the lower urinary bladder, posterior urethra, or outside the urinary tract (e.g. seminal vesicles vas deferens, or ejaculating duct).81,82,83 In females, its insertion is into the lower urinary bladder, urethra, or vagina.81,82,83 Common presenting symptoms postnatally include dribbling urinary incontinence, urinary tract infection, abdominal pain, and progression to chronic kidney disease.82,84

b. Congenital Mega Ureter

This condition is present in 6-10% of infants diagnosed antenatally with hydronephrosis85] and presents as primary non-obstructed, non-refluxing megaureter. This must be differentiated from primary obstructed megaureter which is associated with high complication rates, including infections, stone formation, and progression to chronic kidney disease.86 The cause is taught to be an abnormality in the (Wolffian) duct and ureteric buds.87

c. Duplication of Ureters

This condition occurs when two separate ureteric buds arise from a single Wolffian duct. It is one of the most commonly diagnosed renal anomalies antenatally, occurring in about 1% of the population.88 Incomplete forms of ureteric duplication are clinically silent but complete forms can result in VUR, ectopic ureterocoele, or ectopic ureteral insertion.89,90 It is estimated that about 10% of children diagnosed with urinary tract infections have ureteral duplication.88 For patients with ureteral duplication with a severely dilated ureter, management is surgical correction.91

d. Ureterocoele

This condition is characterized by cystic pouching of the distal ureter into the urinary bladder. The condition can be diagnosed by antenatal ultrasound but postnatally MRI may be needed to clarify the diagnosis.92,93,94 The condition is more common in females.95 Management is surgical and often includes endoscopic ureteral incision, ipsilateral ureterostomy, and ureterocele moiety heminephrectomy. Endoscopic puncture is also a safe and effective treatment for symptomatic children with both single system and duplex system intravesical ureterocoeles.96

Table 3: Commonly diagnosed ureteral anomalies.

  • Ectopic Ureter
  • Duplication of Ureters
  • Congenital Mega Ureter
  • Uretropelvic Junction Obstruction
  • Ureterocoele

Bladder Exstrophy

This condition is characterized by herniation of the urinary bladder through an anterior abdominal wall defect.97 This is due to a developmental defect of the cloacal membrane that results in the protrusion of the bladder mucosa as a mass lesion. The diagnosis is usually made prenatally during routine US examination.98 MRI is useful in planning optimal surgery postnatally.99 The incidence is 1 in 10 000 to 50 000 and is more common in males.1

Bladder Diverticulum

This is a congenital disorder seen almost exclusively in males, found in 1.7% live births, and is characterized by an out-pouching from the bladder wall.98,100 The defect arises as a result of the weakness of the ureterovesical junction or posterior ureteral valve causing high intravesical pressure with voiding. If sufficiently severe, the lesion can be detected antenatally in the US. Due to the potential for carcinomatous change, diverticular excision is recommended.101 Bladder diverticulum and VUR, along with neurological problems are sometimes associated with Menkes syndrome, first described in 1962.102 This is an X-linked neurodegenerative disorder characterized by impairment of copper transport where there is a reduction in the function of ATP7A function, which decreases copper transport.103,104

Patent Urachus

This condition arises when the allantois fails to breakdown and results in an opening between the bladder and umbilical cord. The condition is diagnosed antenatally using the US and is seen as a tubular connection between the bladder and umbilical cord. Postnatally treatment is surgery with removal of the patent urachus and repair to the bladder.105,106,107

Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIHS or Berdon Syndrome)

First described by Berdon in 1976, the condition is characterized by largely a dilated non-obstructed urinary bladder, microcolon, and decreased or absent intestinal peristalsis.108 Often diagnosed antenatally in the US and as the condition is fatal, termination of pregnancy is advised.109 The pathogenesis is thought to be due to mutations in ACTG2 resulting in a smooth muscle myopathy with an autosomal recessive pattern of inheritance.110, 111 It is recommended that when a female fetus is found to have megacystis associated with polyhydramnios on the antenatal US, this condition should be considered.112


Hydronephrosis is defined as dilatation of the renal pelvis and calyces whilst atelectasis involves dilatation of the renal pelvis only. Grading the severity of renal pelvic dilatation is most often done using the maximal anteroposterior diameter of the renal pelvis on a transverse scan of the fetal abdomen.40,41 An alternative grading system is that proposed by the Society of Fetal Urology (SFU) that classifies hydronephrosis in 4 degrees (grade 0-4) and takes into account the degree of pelvic dilatation, the number of calyces seen, and the presence of seventy of renal parenchymal thinning or atrophy.42 This grading system is more subjective and therefore less often used.

An anteroposterior diameter of <10 mm equates to SPU grade 1-2 and >10 mmHg equates to the SPU grade 3-4.

There should be an ideal threshold value for a renal anteroposterior diameter that differentiates fetuses with physiological and transient hydronephrosis from those at risk for congenital anomalies of the GU. Unfortunately, as consensus is lacking, thresholds vary between 4-10 in the second trimester and between 7 and 10 mm in the third trimester. In a systemic review and meta-analysis of the outcome of isolated antenatal hydronephrosis, it was found that anteroposterior diameter of the renal pelvis <12 mm (grade 1-2 in SPU grading) showed stabilization of pelviectasis in 98% of patients whilst there >12 mm (grade 3-4 SPM) the resolution rate was 51%, with grade 1-2 being 5 times more likely to stabilize than grade 3-4. This provides strong evidence that patients with mild degrees of isolated antenatal hydronephrosis (<12 mm), the condition is self-limiting.

Hydronephrosis may be detected as early as the 12th to 14th week of gestation43 and is seen in 1-5% of pregnancies.44 The condition presents in about 30-75% of infants and may result in obstruction to the urinary tract.45 The etiology of hydronephrosis is transient (48%) or physiological (15%) in the majority of cases with only a minority of cases with significant pathology of the urinary tract being detected.25 The latter includes inter alia, ureter pelvic junction stenosis, VUR, vesicoureteric junction stenosis, and mega-ureter, multicystic kidney disease, ureterocele or duplex collecting system, and posterior urethral valves. Rare causes are ectopic ureter, prune belly syndrome, urachal cyst, and urethral atresia.46 Severe forms are more likely associated with underlying pathology (>10 mm in the 2nd trimester and >15 mm in the 3rd trimester).41 The classification of antenatal hydronephrosis, based on renal pelvic anteroposterior diameter is shown in Table 2.

Table 2: Classification of renal antenatal hydronephrosis based on renal pelvic anteroposterior diameter [113]

Classifications Renal pelvic anteroposterior diameter, APD
Second Trimester Third Trimester
Mild 4-6 mm 7-9 mm
Moderate 7-10 mm 10-15 mm
Severe >10 mm > 15 mm
Adapted with permission [1]

Figure 1: Algorithm for postnatal evaluation of antenatal hydronephrosis.

Algorithm for postnatal evaluation of antenatal hydronephrosis

Antenatal Diagnosis and Management of Renal Problems - Conclusion

The main aim of antenatal diagnosis of renal problems is to detect the type of anomaly as accurately as possible, exclude associated malformations, and screen for parameters that will predict a poor renal outcome. In this way, perinatal diagnosis of kidney anomalies and urinary tract malformations allows for improved perinatal management to ensure improved prognosis.

1. Dagur, G., et al., Diagnosis and Treatment of Prenatal Urogenital Anomalie. Translational Biomedicine, 2015. 6(3).
2. Davenport, M.T., P.A. Merguerian, and M. Koyle, Antenatally diagnosed hydronephrosis: current postnatal management. Pediatric surgery international, 2013. 29(3): p. 207-214.
3. Carvalho, M., et al., Detection of fetal structural abnormalities at the 11–14 week ultrasound scan. Prenatal diagnosis, 2002. 22(1): p. 1-4.
4. Dillon, E. and S. Walton, The antenatal diagnosis of fetal abnormalities: a 10 year audit of influencing factors. The British journal of radiology, 1997. 70(832): p. 341-346.
5. Grandjean, H., D. Larroque, and S. Levi, The performance of routine ultrasonographic screening of pregnancies in the Eurofetus Study. American Journal of Obstetrics & Gynecology. 181(2): p. 446-454.
6. Bhide, A., et al., The sensitivity of antenatal ultrasound for predicting renal tract surgery in early childhood. Ultrasound in Obstetrics and Gynecology, 2005. 25(5): p. 489-492.
7. Becker, A.M., Postnatal evaluation of infants with an abnormal antenatal renal sonogram. Current opinion in pediatrics, 2009. 21(2): p. 207.
8. Dunn, P., Dr Edith Potter (1901–1993) of Chicago: pioneer in perinatal pathology. Archives of Disease in Childhood-Fetal and Neonatal Edition, 2007. 92(5): p. F419-F420.
9. Hoffman, N.Y., Edith Potter, MD, PhD: pioneering infant pathology. JAMA, 1982. 248(13): p. 1551-1553.
10. Welch, R., The Potter syndrome of renal agenesis. British medical journal, 1958. 1(5079): p. 1102.
11. Arthur, F.H., Edith L. Potter, M.D.--pathologist. J Am Med Womens Assoc, 1974. 29(11): p. 508-10.
12. Romero, R., et al., Antenatal diagnosis of renal anomalies with ultrasound: III. Bilateral renal agenesis. American journal of obstetrics and gynecology, 1985. 151(1): p. 38-43.
13. Miskin, M., Prenatal diagnosis of renal agenesis by ultrasonography and maternal pyelography. American Journal of Roentgenology, 1979. 132(6): p. 1025-1025.
14. Sanna-Cherchi, S., et al., Genetic approaches to human renal agenesis/hypoplasia and dysplasia. Pediatric nephrology, 2007. 22(10): p. 1675-1684.
15. Slickers, J.E., et al., Maternal Body Mass Index and Lifestyle Exposures and the Risk of Bilateral Renal Agenesis or Hypoplasia The National Birth Defects Prevention Study. American journal of epidemiology, 2008. 168(11): p. 1259-1267.
16. Bienstock, J.L., et al., Successful in utero intervention for bilateral renal agenesis. Obstetrics & Gynecology, 2014. 124(2, PART 2): p. 413-415.
17. Cameron, D., et al., Amnioinfusions in renal agenesis. Obstetrics & Gynecology, 1994. 83(5): p. 872-876.
18. Bruce, J.H., et al., Caudal dysplasia syndrome and sirenomelia: are they part of a spectrum? Fetal and pediatric pathology, 2009. 28(3): p. 109-131.
19. Solanki, S., et al., Crossed fused renal ectopia: Challenges in diagnosis and management. Journal of Indian Association of Pediatric Surgeons, 2013. 18(1): p. 7.
20. Dogan, C.S. and M. Torun-Bayram, Renal outcome of children with unilateral renal agenesis. The Turkish journal of pediatrics, 2013. 55(6): p. 612.
21. Westland, R., et al., Unilateral renal agenesis: a systematic review on associated anomalies and renal injury. Nephrology Dialysis Transplantation, 2013. 28(7): p. 1844-1855.
22. Tabel, Y., et al., Evaluation of hypertension by ambulatory blood pressure monitoring in children with solitary kidney. Blood pressure, 2015. 24(2): p. 119-123.
23. Cain, J.E., et al., Genetics of renal hypoplasia: insights into the mechanisms controlling nephron endowment. Pediatric research, 2010. 68(2): p. 91-98.
24. Yuksel, A., i. l, and C. Batukan, Sonographic findings of fetuses with an empty renal fossa and normal amniotic fluid volume. Fetal diagnosis and therapy, 2004. 19(6): p. 525-532.
25. Hindryckx, A. and L. De Catte, Prenatal diagnosis of congenital renal and urinary tract malformations. Facts, views & vision in ObGyn, 2011. 3(3): p. 165.
26. Gupta, M., K. Kumar, and P.D. Garg, Dual diagnosis vs. triple diagnosis in HIV: a comparative study to evaluate the differences in psychopathology and suicidal risk in HIV positive male subjects. Asian J Psychiatr, 2013. 6(6): p. 515-20.
27. Doménech-Mateu, J.M. and X. Gonzalez-Compta, Horseshoe kidney: A new theory on lts embrogenesis based on the study of a 16-mm human embryo. The Anatomical Record, 1988. 222(4): p. 408-417.
28. Hohenfellner, M., et al., Tumor in the horseshoe kidney: clinical implications and review of embryogenesis. The Journal of urology, 1992. 147(4): p. 1098-1102.
29. Natsis, K., et al., Horseshoe kidney: a review of anatomy and pathology. Surgical and Radiologic Anatomy, 2014. 36(6): p. 517-526.
30. Chavis, C.V., H.C. Press Jr, and R.V. Gumbs, Fused pelvic kidneys: case report. Journal of the National Medical Association, 1992. 84(11): p. 980.
31. Baurys, W., Fused pelvic kidneys. J Urol, 1951. 65(5): p. 781-3.
32. Suzuki, S., et al., [Sonographic features of renal malrotation--a case report]. Rinsho hoshasen. Clinical radiography, 1988. 33(3): p. 413-416.
33. Zaffanello, M., et al., Are children with congenital solitary kidney at risk for lifelong complications? A lack of prediction demands caution. Int Urol Nephrol, 2009. 41(1): p. 127-35.
34. Vu, K.-H., et al., Renal outcome of children with one functioning kidney from birth. A study of 99 patients and a review of the literature. European journal of pediatrics, 2008. 167(8): p. 885-890.
35. Hellerstein, S. and L. Chambers, Solitary kidney. Clin Pediatr (Phila), 2008. 47(7): p. 652-8.
36. Hegde, S. and M.G. Coulthard, Renal agenesis and unilateral nephrectomy: what are the risks of living with a single kidney? Pediatr Nephrol, 2009. 24(3): p. 439-46.
37. Davidovits, M., et al., Unilateral duplicated system: comparative length and function of the kidneys. Clinical nuclear medicine, 2004. 29(2): p. 99-102.
38. M Whitten, S. and D. Wilcox, Duplex systems. Prenatal diagnosis, 2001. 21(11): p. 952-957.
39. Adiego, B., et al., Antenatally Diagnosed Renal Duplex Anomalies Sonographic Features and Long-term Postnatal Outcome. Journal of Ultrasound in Medicine, 2011. 30(6): p. 809-815.
40. Grignon, A., et al., Urinary tract dilatation in utero: classification and clinical applications. Radiology, 1986. 160(3): p. 645-647.
41. Lee, R.S., et al., Antenatal hydronephrosis as a predictor of postnatal outcome: a meta-analysis. Pediatrics, 2006. 118(2): p. 586-593.
42. Fernbach, S., M. Maizels, and J. Conway, Ultrasound grading of hydronephrosis: introduction to the system used by the Society for Fetal Urology. Pediatric radiology, 1993. 23(6): p. 478-480.
43. Josephson, S., Antenatally detected pelvi-ureteric junction obstruction: concerns about conservative management. BJU International, 2000. 85(7): p. 973-973.
44. Sairam, S., et al., Natural history of fetal hydronephrosis diagnosed on mid-trimester ultrasound. Ultrasound in obstetrics & gynecology, 2001. 17(3): p. 191-196.
45. Barbosa, J.A., et al., Postnatal longitudinal evaluation of children diagnosed with prenatal hydronephrosis: insights in natural history and referral pattern. Prenatal diagnosis, 2012. 32(13): p. 1242-1249.
46. Woodward, M. and D. Frank, Postnatal management of antenatal hydronephrosis. BJU international, 2002. 89(2): p. 149-156.
47. Schreuder, M.F., R. Westland, and J.A. van Wijk, Unilateral multicystic dysplastic kidney: a meta-analysis of observational studies on the incidence, associated urinary tract malformations and the contralateral kidney. Nephrology Dialysis Transplantation, 2009: p. gfn777.
48. Atiyeh, B., D. Husmann, and M. Baum, Contralateral renal abnormalities in multicystic-dysplastic kidney disease. The Journal of pediatrics, 1992. 121(1): p. 65-67.
49. Feldenberg, L.R. and N.J. Siegel, Clinical course and outcome for children with multicystic dysplastic kidneys. Pediatric Nephrology, 2000. 14(12): p. 1098-1101.
50. Alconcher, L. and M. Tombesi, Multicystic dysplastic kidney detected by prenatal ultrasonography: conservative management. Pediatric Nephrology, 2005. 20(7): p. 1024-1025.51. Rahman, R.C. and O. Amoreo, Multicystic dysplastic kidney: diagnosis and evolution. Pediatric Nephrology, 2005. 20(7): p. 1023-1023.
52. Aslam, M. and A.R. Watson, Unilateral multicystic dysplastic kidney: long term outcomes. Archives of disease in childhood, 2006. 91(10): p. 820-823.
53. Hains, D.S., et al., Management and etiology of the unilateral multicystic dysplastic kidney: a review. Pediatric Nephrology, 2009. 24(2): p. 233-241.
54. Peters, C.A., et al., Summary of the AUA guideline on management of primary vesicoureteral reflux in children. The Journal of urology, 2010. 184(3): p. 1134-1144.
55. Sinha, A., et al., Revised guidelines on management of antenatal hydronephrosis. Indian Journal of Nephrology, 2013. 23(2): p. 83-97.
56. Kudo, E., et al., Familial juvenile hyperuricemic nephropathy: detection of mutations in the uromodulin gene in five Japanese families. Kidney international, 2004. 65(5): p. 1589-1597.
57. Tinschert, S., et al., Functional consequences of a novel uromodulin mutation in a family with familial juvenile hyperuricaemic nephropathy. Nephrology Dialysis Transplantation, 2004. 19(12): p. 3150-3154.
58. Wilson, P.D., Polycystic kidney disease. New England Journal of Medicine, 2004. 350(2): p. 151-164.
59. Parfrey, P.S., et al., The diagnosis and prognosis of autosomal dominant polycystic kidney disease. New England Journal of Medicine, 1990. 323(16): p. 1085-1090.
60. Peters, D., et al., Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease. Nature genetics, 1993. 5(4): p. 359-362.
61. Brun, M., et al., Prenatal sonographic patterns in autosomal dominant polycystic kidney disease: a multicenter study. Ultrasound in obstetrics & gynecology, 2004. 24(1): p. 55-61.
62. Proesmans, W., et al., Autosomal dominant polycystic kidney disease in the neonatal period: association with a cerebral arteriovenous malformation. Pediatrics, 1982. 70(6): p. 971-975.
63. Cole, B.R., S.B. Conley, and F.B. Stapleton, Polycystic kidney disease in the first year of life. The Journal of pediatrics, 1987. 111(5): p. 693-699.
64. Fick, G.M., et al., The spectrum of autosomal dominant polycystic kidney disease in children. Journal of the American Society of Nephrology, 1994. 4(9): p. 1654-1660.
65. Rizk, D. and A. Chapman, Treatment of autosomal dominant polycystic kidney disease (ADPKD): the new horizon for children with ADPKD. Pediatric Nephrology, 2008. 23(7): p. 1029-1036.
66. Schwab, S.J., S.J. Bander, and S. Klahr, Renal infection in autosomal dominant polycystic kidney disease. The American journal of medicine, 1987. 82(4): p. 714-718.
67. Fick-Brosnahan, G.M., et al., Progression of autosomal-dominant polycystic kidney disease in children1. Kidney international, 2001. 59(5): p. 1654-1662.
68. Ward, C.J., et al., The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein. Nature genetics, 2002. 30(3): p. 259-269.
69. Onuchic, L.F., et al., PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription–factor domains and parallel beta-helix 1 repeats. The American Journal of Human Genetics, 2002. 70(5): p. 1305-1317.
70. Zerres, K., et al., Mapping of the gene for autosomal recessive polycystic kidney disease (ARPKD) to chromosome 6p21–cen. Nature genetics, 1994. 7(3): p. 429-432.
71. Guay-Woodford, L.M., et al., Consensus expert recommendations for the diagnosis and management of autosomal recessive polycystic kidney disease: report of an international conference. J Pediatr, 2014. 165(3): p. 611-7.
72. Zerres, K., et al., Autosomal recessive polycystic kidney disease. Problems of prenatal diagnosis. Prenatal Diagnosis, 1988. 8(3): p. 215-229.
73. Luthy, D.A., et al., Infantile polycystic kindney disease: Observations from attempts at prenatal diagnosis. American journal of medical genetics, 1985. 20(3): p. 505-517.
74. Guay-Woodford, L.M. and R.A. Desmond, Autosomal recessive polycystic kidney disease: the clinical experience in North America. Pediatrics, 2003. 111(5 Pt 1): p. 1072-80.
75. Bergmann, C., et al., Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD). Kidney international, 2005. 67(3): p. 829-848.
76. Telega, G., D. Cronin, and E.D. Avner, New approaches to the autosomal recessive polycystic kidney disease patient with dual kidney–liver complications. Pediatric transplantation, 2013. 17(4): p. 328-335.
77. Tsimaratos, M., et al., Chronic renal failure and portal hypertension–is portosystemic shunt indicated? Pediatric Nephrology, 2000. 14(8-9): p. 856-858.
78. Anunobi, C., K. Badmos, and V. Onyekwelu, Case Report: Congenital mesoblastic nephroma in a premature neonate: A case report and review of literature. Nigerian journal of clinical practice, 2014. 17(2): p. 255-259.
79. Viart, L., et al., Le néphrome mésoblastique congénital: diagnostic et prise en charge à partir d’un cas. Progrès en urologie, 2012. 22(3): p. 189-191.
80. Issacs, H.J., Tumors. In: Potter's pathology of the fetus and newborn. Gilbert Barnes TEd), Mosby, St Louis, 1997. 2.
81. McLoughlin, M.A. and D.J. Chew, Diagnosis and surgical management of ectopic ureters. Clinical techniques in small animal practice, 2000. 15(1): p. 17-24.
82. Ahmed, S., L.L. Morris, and R.W. Byard, Ectopic ureter with complete ureteric duplication in the female child. J Pediatr Surg, 1992. 27(11): p. 1455-60.
83. Chowdhary, S., et al., Single-system ectopic ureter: a 15-year review. Pediatric surgery international, 2001. 17(8): p. 638-641.
84. Choudhury, S.R., et al., Spectrum of ectopic ureters in children. Pediatric surgery international, 2008. 24(7): p. 819-823.
85. Di Renzo, D., et al., Long-term followup of primary nonrefluxing megaureter. The Journal of urology, 2013. 190(3): p. 1021-1027.
86. Suzuki, Y. and J.I. Einarsson, Congenital megaureter. Reviews in Obstetrics and Gynecology, 2008. 1(4): p. 152.
87. Sigel, A. and K. Schrott, [Congenital megaureter and its implications]. Der Urologe. Ausg. A, 1982. 21(6): p. 312-317.
88. Siomou, E., et al., Duplex collecting system diagnosed during the first 6 years of life after a first urinary tract infection: a study of 63 children. The Journal of urology, 2006. 175(2): p. 678-682.
89. Dore, B., et al., [Vesicorenal reflux and ureteral duplication. Study of 62 cases]. Journal d'urologie, 1989. 96(6): p. 303-310.
90. Caldamone, A., Duplication anomalies of the upper tract in infants and children. The Urologic clinics of North America, 1985. 12(1): p. 75-91.91. Chacko, J.K., et al., Ipsilateral ureteroureterostomy in the surgical management of the severely dilated ureter in ureteral duplication. The Journal of urology, 2007. 178(4): p. 1689-1692.
92. Direnna, T. and M.P. Leonard, Watchful waiting for prenatally detected ureteroceles. The Journal of urology, 2006. 175(4): p. 1493-1495.
93. Godinho, A.B., et al., Ureterocele: antenatal diagnosis and management. Fetal diagnosis and therapy, 2013. 34(3): p. 188-191.
94. Kajbafzadeh, A.-M., et al., Comparison of magnetic resonance urography with ultrasound studies in detection of fetal urogenital anomalies. Journal of pediatric urology, 2008. 4(1): p. 32-39.
95. Coplen, D.E. and J.W. Duckett, The modern approach to ureteroceles. The Journal of urology, 1995. 153(1): p. 166-171.
96. Timberlake, M.D. and S.T. Corbett, Minimally invasive techniques for management of the ureterocele and ectopic ureter: upper tract versus lower tract approach. Urologic Clinics of North America, 2015. 42(1): p. 61-76.
97. Mollohan, J., Exstrophy of the bladder. Neonatal Netw, 1999. 18(2): p. 17-26.
98. Arlen, A.M. and E.A. Smith, Disorders of the bladder and cloacal anomaly. Clin Perinatol, 2014. 41(3): p. 695-707.
99. Tekes, A., et al., 2D and 3D MRI features of classic bladder exstrophy. Clinical radiology, 2014. 69(5): p. e223-e229.
100. Berrocal, T., et al., Anomalies of the Distal Ureter, Bladder, and Urethra in Children: Embryologic, Radiologic, and Pathologic Features 1. Radiographics, 2002. 22(5): p. 1139-1164.
101. Zia-Ul-Miraj, M., Congenital bladder diverticulum: a rare cause of bladder outlet obstruction in children. The Journal of urology, 1999. 162(6): p. 2112-2113.
102. Menkes, J.H., et al., A sex-linked recessive disorder with retardation of growth, peculiar hair, and focal cerebral and cerebellar degeneration. Pediatrics, 1962. 29(5): p. 764-779.
103. Zlatic, S., et al., Molecular basis of neurodegeneration and neurodevelopmental defects in Menkes disease. Neurobiology of disease, 2015. 81: p. 154-161.
104. Kodama, H., et al., Copper deficiency in the mitochondria of cultured skin fibroblasts from patients with Menkes syndrome. J Inherit Metab Dis, 1989. 12(4): p. 386-9.
105. Tsai, M.S. and M.L. Yeh, Images in clinical medicine. Patent urachus. N Engl J Med, 2011. 365(14): p. 1328.
106. Depree, P.J. and C.K. Wong, Patent urachus in a neonate: findings at micturating cystourethregram. Australas Radiol, 2007. 51 Suppl: p. B224-6.
107. Lane, V., R. Patel, and R.D. Daniel, Prolapsed urachal sinus with pyourachus in an infant. Journal of pediatric surgery, 2013. 48(3): p. e17-e19.
108. Berdon, W., et al., Megacystis-microcolon-intestinal hypoperistalsis syndrome: a new cause of intestinal obstruction in the newborn. Report of radiologic findings in five newborn girls. American Journal of Roentgenology, 1976. 126(5): p. 957-964.
109. Mc Laughlin, D. and P. Puri, Familial megacystis microcolon intestinal hypoperistalsis syndrome: a systematic review. Pediatric surgery international, 2013. 29(9): p. 947-951.
110. Machado, L., et al., Fetal megacystis as a prenatal challenge: megacystis–microcolon–intestinal hypoperistalsis syndrome in a male fetus. Ultrasound in Obstetrics & Gynecology, 2013. 41(3): p. 345-347.
111. Liaqat, N., et al., Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIHS): A Rarity. Journal of Neonatal Surgery, 2015. 4(1): p. 11.
112. Hellmeyer, L., et al., [Megacystis-microcolon intestinal hypoperistalsis syndrome (MMIHS) as a rare differential diagnosis of foetal megacystis on ultrasonography]. Zeitschrift fur Geburtshilfe und Neonatologie, 2013. 217(1): p. 35-37.

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