Chronic Liver Disease with Renal Calculi

4th Pediatric Infectious Diseases Conference

ISSN 0973 - 0958

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Rakesh Kumar, Binay Ranjan, Manjul Vijay Department of Pediatrics, Katihar medical college, Katihar...

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	Specialist Answers
Question
Jyoti, eight and half years old female child was brought to me with following positive points and investigations: Consanguineous parents ( father and mother were real cousins before marriage) Yellow eyes, anasarca with ascites, red urine ( duration 1 month) with burning micturition. Past history of hospitalization before five years for fever with altered sensorium which she recovered smoothly and completely. Family history of consanguinity. Two previous male siblings died. First at the age of 7 and the cause was not known. But he had some renal problem at the time of death. Second male sibling died at the age of 13 with chronic liver disease.(papers are not available). Third male sib has mental retardation with gait disturbances. She has apparently normal male siblings, one 23 year old and another 11 years old. On examination , Temp was normal, pulse was 108/min, BP was 130/70 mm of Hg, Yellow sclera, anemia, anasarca, ascites, liver 1.5 cm and spleen 1 cm below costal margin. She is conscious, alert, awake and not looking ill. Investigations, Hb 9.9, TC 12,100, s.bil total 1.9 ( normal upto 1.2) direct 1.4 ( normal upto 0.4) indirect 0.5 (normal 0.1 to 1.0) SGPT 82 , s. alk phosphatase normal s. protein total 6.1, albumin 2.76, globulin 3.39 bl sugar random 170 urine albumin trace, urine sugar ++ ( child had sugarcane juice prior to urine report but not prior to blood reports), pus cells 13 /hpf and plenty of RBCs/hpf USG abdomen showing right renal and ureteric calculus with mild hydronephrosis with hydroureter. Our further plans: Urine for metabolic screening Bl urea creatinine. Liver viral serology and wilsons disease profile. Are we dealing with genetic / metabolic disorder? Can u guide us further?
Answer
The child has a chronic liver disease with renal calculi. The calculi itself could be leading to hematuria and hydronephrosis which in turn could be leading to renal dysfunction and hypertension. One can think of following possibilities to explain both etiologies: Porphyria Chronic liver disease leading to oxalate malabsorption and oxaluria leading to oxalate stone Polycystic kidney disease. One can do 24 hours urine for calcium, oxalate, uric acid to determine the kind of stone and if unrelated then both liver disease and renal disease may be unrelated. For liver disease, do viral markers, autoimmune tests, wilsons workup, alpha 1 antitrypsin deficiency, cystic fibrosis and metabolic workup for tyrosinemia and fructosemia. Back to All Questions

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