Early occurrence of end-stage renal disease in a patient with infantile nephropathic cystinosis
| Autor: | Gary D. Shackelford, Barbara R. Cole, Jerry A. Schneider, John M. Kissane, Samuel So, Margaret L. Smith, Jill Cottel, Raoul D. Nelson, Suzanne Merrill, Eric Marcusson, H. William Schnaper |
|---|---|
| Rok vydání: | 1992 |
| Předmět: |
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 |
| Zdroj: | The Journal of pediatrics. 120(4 Pt 1) |
| ISSN: | 0022-3476 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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