Early occurrence of end-stage renal disease in a patient with infantile nephropathic cystinosis.
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.
Schnaper
H W
HW
Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri.
Cottel
J
J
Merrill
S
S
Marcusson
E
E
Kissane
J M
JM
Shackelford
G D
GD
So
S K
SK
Nelson
R D
RD
Cole
B R
BR
Smith
M L
ML
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*
D003553:Cystine