Abstract
A three month old male manifested failure to thrive, neurological dysfunction, moderate renal insufficiency, extreme hyperuricemia (16.5 mg%), and arterial hypoxemia and a radiographic picture compatible with idiopathic pulmonary fibrosis (IPF). A sister had died at age 6 months with IPF proven at autopsy, mild glomerular insufficiency and a disproportionate elevation in serum urate (10.6). There was no parental consanguinity nor positive family history for similar abnormalities. On a purine-free diet and 50 mg allopurinol the proband's serum urate was controlled at 5.5-7 mg%. N-15 uric acid tracer was administered intravenously while continuing allopurinol. Miscible urate pool size was considerably increased (55 mg/kg). Urate turnover was 11 mg/kg/24h; this figure may reflect increased de novo purine synthesis but sufficient data on children receiving allopurinol are not available to warrant a firm conclusion. Known enzymatic causes for purine overproduction were excluded since the following activities (nmol/hr/mg prot.) in RBC hemolysates were normal: hypoxanthine-guanine phosphoribosyltransferase, 79-83 (nl. 81±13 S.D.); adenine phosphoribosyltransferase, 18-19 (nl. 21±5); phos-phoribosylpyrophosphate synthetase, 84 (nl. 66±18), with normal inhibition by ADP, GDP, and 2,3-diphosphoglycerate. We conclude that the proband and his sister are examples of a previously undescribed disease state, inherited in autosomal recessive manner.
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Orloff, S., Mcdonald, B., Becker, M. et al. A NEW SYNDROME OF HYPERURICEMIA, PULMONARY FIBROSIS, AND RENAL DISEASE IN A KINDRED. Pediatr Res 11, 461 (1977). https://doi.org/10.1203/00006450-197704000-00548
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DOI: https://doi.org/10.1203/00006450-197704000-00548