1 Department of Pediatrics, University of California, San Francisco
The diagnosis in a 1-year-old female with skeletal and chemical rickets, generalized hyperaminoaciduria, and metabolic acidosis was uncertain, and primary renal disease (i.e., Fanconi "syndrome") was considered. She had been on a diet which was deficient in calcium (approximately 21 to 36 mg calcium daily) but adequate for phosphorus and vitamin D. Her skeletal and renal lesions resolved within 3 months on a high calcium diet.
Early in her hospital course, an intravenous calcium infusion provided 10 mg/kg calcium, as calcium gluconate over 3 hours; 8 to 10 hours later, a significant reduction in urinary amino acids and phosphorus was observed. The mechanism through which this response was mediated is postulated to be via reduction in circulating parathormone.
Submitted on March 25, 1970
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