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Early occurrence of end-stage renal disease in a patient with infantile nephropathic cystinosis
- Source :
- The Journal of pediatrics. 120(4 Pt 1)
- Publication Year :
- 1992
-
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.
- Subjects :
- Pediatrics
medicine.medical_specialty
Cystinosis
Kidney
End stage renal disease
Nephropathy
Lesion
Tubulopathy
medicine
Humans
Infantile nephropathic cystinosis
business.industry
Infant
Fibroblasts
medicine.disease
Surgery
Clone Cells
Transplantation
Pediatrics, Perinatology and Child Health
Cystine
Kidney Failure, Chronic
Female
medicine.symptom
Complication
business
Subjects
Details
- ISSN :
- 00223476
- Volume :
- 120
- Issue :
- 4 Pt 1
- Database :
- OpenAIRE
- Journal :
- The Journal of pediatrics
- Accession number :
- edsair.doi.dedup.....3de4e8139daba0558caa0c1c58a79cef