An 8 year old child suffering from recurrent attacks of polyurea since childhood presents to the paediatrics OPD. On examination the child is sho statured vitals and B.P. are normal. Serum Creatinine – 6 mg%, HCO3 – 16 meq, Na – 134, K+ 4.2 On USG bilateral small kidneys are seen. Diagnosis is –
Correct Answer: Nephronophthisis
Description: Ans. is 'b' i.e., Juvenile Nephronophthisis The lab investigations and symptoms of the child suggest Juvenile nephronophthisis. Juvenile nephronophthisis o It is the most common genetic cause of end stage renal disease (renal failure) in childhood and adolescence. o It is an autosomal recessive disease. o The patients present before the age of 20 years. o The pt. presents with Inability to conserve sodium because of defect of tubules leading to polyurea and polydypsia (Polyurea is resistant to vasopressin) Anemia Growth retardation (growth retardation, malaise & pallor are secondary to anemia which is attributed to a def. of erythropoietin production by failing kidneys) No hypeension (As nephronopthosis is a salt-losing nephropathy) Proteinuria and hematuria usually are absent Sonography shows b/1 small kidneys with multiple cysts only in medulla (cysts may only be seen if they are large enough. They are rarely visible early in disease) o Juvenile nephronopthosis is usually associated with many extra renal conditions, one of which is hepatic fibrosis, which explains high level of alkaline phosphatase in this patient. o Radiographic features Small kidneys Loss of coico medullary junction Multiple cysts About other options Medullary cystic disease o Patient with medullary cystic disease presents with similar features as Juvenile Nephronophthisis but it can be differentiated by - o Absence of Growth Retardation Age of presentation is 3rd or 4th Decade. Hypeension may occur (in JN, hypeension is not seen). In polycystic kidney disease there is bilateral enlargement of kidney. In reflux Nephropathy the kidneys does not decrease in size and there will be history of frequent urinary tract infections.
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Pediatrics
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