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.
Original language | English (US) |
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Pages (from-to) | 575-578 |
Number of pages | 4 |
Journal | The Journal of pediatrics |
Volume | 120 |
Issue number | 4 PART 1 |
DOIs | |
State | Published - Apr 1992 |
Funding
A pale, fair-skinned, 10-month-old girl with thin, blond hair was seen at St. Louis Children's Hospital with severe growth failure, renal tubular acidosis, phosphaturia, and proteinuria (2+). Her blood urea nitrogen level was 1.4 mmol/L (4 mg/dl) and her se- Supported in part by grant No. PHS DK 18434 from the National Institutes of Health, Summer Science Research Program for Medical Students grant No. 8 FY91-9 from the March of Dimes-Birth Defects Foundation (to J.C.), the Cystinosis Foundation, the Bernard L. Maas Foundation, Mr. Peter Solomon, and the ESHE Fund. Received for publication Sept. 9, 1991; accepted Oct. 29, 1991. Reprint requests: H. William Schnaper, MD, Department of Nephrology, Children's National Medical center, 111 Michigan Ave., N.W., Washington, DC 20010.
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health