A Problem-Solving in a Case of Medullary Nephrocalcinosis

Medullary Nephrocalcinosis (MNC) is defined as calcium deposition in tubular basement membrane and interstitium of the kidney medulla. It 20 times more common than cortical one. In this case report, we present a 12-year-boy who presented with persistent nocturnal enuresis for 8 years. Physical examination routine tests were normal except microscopic hematuria. Renal ultrasound showed extensive MNC. Twenty-four-hour urine collection revealed mineral metabolic screen low urinary excretion calcium, phosphorous, magnesium uric acid yet high oxalates. Hence, based on above-mentioned data, certain disorders ruled out: 1) hyperparathyroidism, 2) excessive intake vitamin D, 3) hypercalcemia, 4) hypercalciuria, 5) hyperuricemia, 6) hyperuricosuria, 7) hypocitraturia, 8) cystinuria, 9) lysinuria 10) distal renal acidosis out. Subsequently, testing concentration glycolate glycerate 4-hydroxy-2-oxoglutarates establishing diagnosis type 1 primary hyperoxaluria (PH I). Further confirmatory included: biopsy which typical crystals deposition, liver that confirmed deficiency liver-specific peroxisomal enzyme alanine: glyoxylate aminotransferase (AGXT), full gene analysis mutation. conclusion, our report provides practical algorithm MNC not renal-limited its prognosis depends upon underlying etiology.