J Pediatr. 1992 Apr;120(4 Pt 1):575-8.

Early occurrence of end-stage renal disease in a patient with infantile nephropathic cystinosis.

Schnaper HW, Cottel J, Merrill S, Marcusson E, Kissane JM, Shackelford GD, So SK, Nelson RD, Cole BR, Smith ML, et al.

Source

Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri.

Abstract

We report the case of a patient with infantile nephropathic cystinosis who required renal transplantation at age 30 months. Exhaustive evaluation did not identify a cause of progressive renal failure other than cystinosis. The patient's genetic lesion was allelic with those of other patients with cystinosis; fusion of this patient's fibroblasts with fibroblasts from another patient with infantile nephropathic cystinosis did not demonstrate complementation of the biochemical defect.

PMID:: 1552398; [PubMed - indexed for MEDLINE]

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Substances

Cystine

Grant Support

DK 18434/DK/NIDDK NIH HHS/United States

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