RESUMO

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.

Assuntos

Cistinose/complicações , Falência Renal Crônica/etiologia , Células Clonais , Cistina/análise , Cistinose/genética , Cistinose/patologia , Feminino , Fibroblastos/química , Humanos , Lactente , Rim/química