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

H. William Schnaper*, Jill Cottel, Suzanne Merrill, Eric Marcusson, John M. Kissane, Gary D. Shackelford, Samuel K S So, Raoul D. Nelson, Barbara R. Cole, Margaret L. Smith, Jerry A. Schneider

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

11 Scopus citations

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 languageEnglish (US)
Pages (from-to)575-578
Number of pages4
JournalThe Journal of pediatrics
Volume120
Issue number4 PART 1
DOIs
StatePublished - Apr 1992

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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