Common mutation underlying primary hyperoxaluria type1 in three Indian children
A 6-month-old girl was referred for management of renal dysfunction, detected during evaluation for acute gastroenteritis, pallor and anasarca. She was born at term gestation to parents hailing from Farukhabad, Uttar Pradesh (India). Following an uneventful perinatal course, failure to thrive and developmental delay were noted. Acute peritoneal dialysis was initiated in view of deranged renal functions (blood urea, 161 mg/dl; creatinine, 5.7 mg/dl), acidosis (pH 7.28, bicarbonate 17.5 mEq/l), and dyselectrolytemia (sodium 125 mEq/l; potassium 5.4 mEq/l). The hemoglobin was 7 g/dl; calcium, 7.4 mg/dl; phosphate, 7 mg/dl; alkaline phosphatase, 129 IU/l; PTH, 563 pg/ml; and urinalysis was normal. Ultrasound suggested increased echogenicity of medullary papillae. Renal biopsy, undertaken in view of persistent azotemia, revealed that proximal and distal tubules were filled with hexagonal crystals; additional findings included tubular dilatation and atrophy, interstitial fibrosis, and periglomerular fibrosis.