An infant with nephrolithiasis and renal failure: Questions

Excerpt

A 16-month-old Japanese boy was admitted to our hospital with a history of recurrent vomiting. He was born full term with a normal birth weight of 3.9 kg, following an uneventful pregnancy. There was no history of consanguinity among parents. Since 3 months of age, the infant’s weight gain had been poor. On admission, his height was 72.0 cm (−2.5 SD) and his weight was 7.2 kg (−3.0 SD). His temperature was 36.6 °C, heart rate was 107 beats per minute, and blood pressure was 100/50 mmHg. His conjunctivae were pale, indicating anemia, and his oral cavity was dry. Laboratory findings were as follows: white blood cell count, 16.60 × 10⁹/l; hemoglobin, 5.8 g/dl; C-reactive protein level, 0.04 (normal <0.4) mg/dl. Kidney function tests showed elevated urea (153 mg/dl) and creatinine (6.79 mg/dl) levels. Uric acid was 9.4 mg/dl; potassium, 5.2 mEq/l; calcium, 8.8 mg/dl; phosphate, 7.7 mg/dl. Urinalysis revealed a specific gravity of 1.006, pH of 5.0, 1+ protein and ± blood. The urinary sediment showed precipitation (Fig. 1). Abdominal X-ray was normal. Plain abdominal computed tomography showed multiple urinary tract stones (Fig. 2).

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