[家族性青少年肾单位肾痨——一种由基因引起的肾脏疾病]
[Familial juvenile nephronophthisis--a genetically-caused kidney disease].
作者信息
Demuth S, August C
机构信息
Humangenetische Beratungsstelle des Bezirkes Halle am Stadtkrankenhaus Halle.
出版信息
Z Urol Nephrol. 1990 Sep;83(9):505-9.
PMID:2267862
Abstract
It is reported on the course of the autosomal recessive transmitted familiar juvenile nephronophthisis in 3 siblings. Direct symptoms are polydipsia and polyuria with terminal course of chronic renal failure which could treated by dialysis and transplantation. Examination of the safe (parents) and possible (healthy siblings) heterozygotes was without particularities.
摘要
据报道，3名同胞患有常染色体隐性遗传的家族性青少年肾单位肾痨。直接症状为烦渴和多尿，最终发展为慢性肾衰竭，可通过透析和移植进行治疗。对携带者（父母）和可能的携带者（健康同胞）进行检查未发现特殊情况。
Zotero 插件