[家族性幼年肾病——一种遗传引起的肾脏疾病]。

S Demuth, C August
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引用次数: 0

摘要

本文报道了3例兄弟姐妹常染色体隐性遗传的常见幼年肾病的病程。直接症状为多饮、多尿,终末期慢性肾功能衰竭可通过透析和肾移植治疗。对安全的(父母)和可能的(健康的兄弟姐妹)杂合子的检查没有特别之处。
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[Familial juvenile nephronophthisis--a genetically-caused kidney disease].

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.

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