Common mutation underlying primary hyperoxaluria type1 in three Indian children
A 6-year-old girl, resident of Pauri Garhwal, Uttarakhand (India), was evaluated for recurrent abdominal pain, seizures and hypertension. Past history was significant for left percutaneous nephrolithotomy when she was 5 years old. At evaluation, undernutrition (weight, 14.5 kg; height, 112 cm) and hypertension (blood pressure 113/82 mmHg) were noted. Evaluation revealed renal dysfunction (blood urea 102 mg/dl; creatinine 5.49 mg/dl), hemoglobin 10.4 g/dl; sodium 138 mEq/l; potassium 3.4 mEq/l; calcium 8.6 mg/dl; phosphate 3.8 mg/dl; alkaline phosphatase 568 IU/l, pH 7.39; bicarbonate 21.9 mEq/l; and PTH 347 pg/ml. Ultrasonography demonstrated bilateral multiple renal pelvicalyceal stones. A diagnosis of PH1 was considered, prompting a mutational testing. As disease progressed, chronic ambulatory peritoneal dialysis was initiated.\nThe median urinary oxalate level in the three cases was 283.5 mg/1.73 m2/day (normal, <40 mg/1.73 m2/day).