一名患有婴儿型肾病性胱氨酸病的患者早期出现终末期肾病

Early occurrence of end-stage renal disease in a patient with infantile nephropathic cystinosis.

作者信息

Schnaper H W, Cottel J, Merrill S, Marcusson E, Kissane J M, Shackelford G D, So S K, Nelson R D, Cole B R, Smith M L

机构信息

Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri.

出版信息

J Pediatr. 1992 Apr;120(4 Pt 1):575-8. doi: 10.1016/s0022-3476(05)82486-2.

DOI:10.1016/s0022-3476(05)82486-2

PMID:1552398

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.

摘要

我们报告了一例患有婴儿型肾病性胱氨酸病的患者，该患者在30个月大时需要进行肾移植。详尽的评估未发现除胱氨酸病以外的进行性肾衰竭病因。该患者的基因病变与其他胱氨酸病患者的病变等位；将该患者的成纤维细胞与另一名患有婴儿型肾病性胱氨酸病患者的成纤维细胞融合，未显示出生化缺陷的互补作用。