title: Early occurrence of end-stage renal disease in a patient with infantile nephropathic cystinosis.
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.
authors.affiliation: Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri.
authors.forename: H W
authors.initials: HW
authors.lastname: Schnaper
authors.forename: J
authors.initials: J
authors.lastname: Cottel
authors.forename: S
authors.initials: S
authors.lastname: Merrill
authors.forename: E
authors.initials: E
authors.lastname: Marcusson
authors.forename: J M
authors.initials: JM
authors.lastname: Kissane
authors.forename: G D
authors.initials: GD
authors.lastname: Shackelford
authors.forename: S K
authors.initials: SK
authors.lastname: So
authors.forename: R D
authors.initials: RD
authors.lastname: Nelson
authors.forename: B R
authors.initials: BR
authors.lastname: Cole
authors.forename: M L
authors.initials: ML
authors.lastname: Smith
mesh_terms: D002999:Clone Cells; D003553:Cystine / Q000032:analysis; D003554:Cystinosis / Q000150:complications* / Q000235:genetics / Q000473:pathology; D005260:Female; D005347:Fibroblasts / Q000737:chemistry; D006801:Humans; D007223:Infant; D007668:Kidney / Q000737:chemistry; D007676:Kidney Failure, Chronic / Q000209:etiology*
chemical_list: D003553:Cystine