Nephrocalcinosis in adolescent girl with medullary sponge kidney and mild hemihypertrophy: A case report.

Medullary sponge kidney (MSK) is a rare congenital abnormality characterized by cystic dilatation of the medullary collecting tubules. The disorder is likely to be complicated by nephrocalcinosis, urolithiasis, tubular dysfunctions, and urinary tract infections. In addition, it may be rarely associated with extrarenal anomalies.We present a case of 17-year old girl who was referred for metabolic evaluation of bilateral nephrocalcinosis. Physical examination showed signs of mild, left-sided hemihypertrophy involving the lower limb, buttock, trunk, face, and tongue. The imaging studies of kidneys including intravenous urography and contrast computed tomography showed numerous medullary calcification and a typical picture of MSK-"paint brush"/"bouquet of flowers" appearance of the dilated tubules within the renal medulla. Laboratory evaluation revealed sterile pyuria, hypercalciuria, and hypocitraturia.The patient was subsequently treated with potassium citrate, hydrochlorothiazide, low sodium and low oxalate diet accompanied by high fluid intake.After a 1-year therapy the normalization of calciuria and citraturia occurred and no progression of nephrocalcinosis was observed.We conclude that MSK should always be considered as a cause of nephrocalcinosis. Since the final diagnosis requires specific imaging techniques, the concomitant extrarenal abnormalities such as hemihypertrophy may facilitate diagnostic decisions.