CONGENITAL NEPHROTIC SYNDROME

Karuna Thapar; Gaurav Dhawan

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Karuna Thapar, Gaurav Dhawan.

Department of Pediatrics, Govt. Medical College, Amritsar.

ADDRESS FOR CORRESPONDENCE
Karuna Thapar, Hno.9-A, Krishna Square, Near Shivala Mandir, Amritsar, Punjab, India-143001.
Email: kthapar2000@yahoo.com

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Introduction

Congenital nephrotic syndrome is a rare condition affecting children from birth to third month of life. Familial incidence has been described in this condition with an autosomal recessive inheritance. This disease is most commonly seen in Finland with an incidence of 1:8000 live births. This syndrome at 10 days of age is extremely rare. Here is a case report of congenital nephrotic syndrome being reported for its rarity.

Case Report

21 days old female child presented with generalized edema. Patient was preterm, born to non-consanguineous parents by LSCS (indication breech presentation and Oligohydramnios), cried immediately after birth. Perinatal history was uneventful. Her mother was screened for TORCH, HIV, and syphilis and found to be negative. 10 days postnatal period was uneventful. Child developed edema on 10th day and it progressed rapidly. Baby took treatment from a private nursing home. On 26th day baby was brought to us. On examination baby had generalized anasarca. Anthropometric measurements were within normal limits. Vitals were normal. Systemic examination revealed ascites and pleural effusion. On investigations baby had hemoglobin of 9.9 gm/dl, total and differential white counts and platelet counts were normal. Biochemical investigations showed serum cholesterol 255 mg/dl, total serum proteins 4.3 gm/dl, albumin 1.6 gm/dl, Globulins 2.7 gm/dl. Urine albumin was +++, electrolytes and urea were normal. Ultrasound abdomen for kidneys was normal. Renal biopsy showed mesangial proliferation with sclerosis in glomeruli. Chromosomal analysis could not be done due to non-consent of the parents. A diagnosis of congenital nephrotic syndrome was made. Child was given intravenous albumin, edema regressed. Diet of 120 to 130 cal/kg/day and proteins 3 to 4 g/kg/day were given as a part of nutritional management to which child responded well. Prognosis was explained to parents and was discharged on request. A fortnight later, child was admitted with severe bronchopneumonia and treated with broad spectrum antibiotics. Child recovered from pneumonia. Baby was discharged and lost on follow up.

Discussion

Finnish type congenital nephrotic syndrome is a rare condition that presents within first three months of life. This disease is frequently seen in Finland and familial incidence is common. Sporadic and familial cases are described worldwide (1). Clinical manifestations of this condition include generalized edema, abdominal distention, anasarca, malnutrition, separation of cranial sutures, respiratory distress and prematurity. The clinical course is one of persistent edema and recurrent infections. Characteristic laboratory findings include proteinuria, hypoalbuminemia, and hyperlipidemia. Although proteinuria is present at birth, the nephrotic syndrome becomes apparent within first three months of life. Differential diagnosis includes congenital infections (syphilis, toxoplasmosis, cytomegalovirus), and diffuse mesangial sclerosis of unknown cause (Drash syndrome, consisting of nephropathy, Wilm's tumour, and genital abnormalities). Children with congenital nephrotic syndrome usually die in early infancy from complications of the disease or from chronic renal failure. Anasarca is often so severe that patients require nephrectomy. Treatment is based on the clinical course of the patient. Corticosteroid and immunosuppressive agents are of no value. captopril and indomethacin or unilateral nephrectomy may diminish proteinuria and ameliorate the nephrotic state (2, 3). Long term survival of these patients is improved by supportive and surgical management aimed to keep the patient from developing complications associated with malnutrition, loss of renal function and immunosuppression (4, 5, 6). Patients undergoing renal transplant by 1 to 2 years of age carry the best long term prognosis (5,7,8,9). Recently, new technological advances in infant dialysis and aggressive nutritional and metabolic support have improved the long term survival of patients with congenital nephrotic syndrome. Caloric intake of 120 to 130 cal/kg/day with 3 to 4 g/kg/day of protein can provide optimal growth, control edema, and reduce number of infections (10).

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Funding None

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