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[常染色体隐性多囊肾]

[Autosomal recessive polycystic kidney].

作者信息

Todorov V, Penkova S, Lalev I

出版信息

Vutr Boles. 1990;29(2):92-5.

PMID:2238628
Abstract

A case of a 22 years old woman with autosomal-recessive form of kidney polycystosis is presented. The diagnosis was made in early childhood. A combination of renal anomaly and hepatic fibrosis with manifestations of portal hypertension was present. No deviations from the other internal organs were found. At the age of 12 she entered into the stage of chronic renal failure. The last five years she is on dialysis treatment. She had survived several acute bleedings from esophageal varices. The authors are of the opinion that the case is of interest since patients with autosomal-recessive renal polycystosis very rarely reach majority.

摘要

本文报告一例22岁常染色体隐性遗传性多囊肾病女性患者。该诊断于儿童早期做出。患者存在肾脏异常与肝纤维化,并伴有门静脉高压表现。未发现其他内脏器官有异常。12岁时进入慢性肾衰竭阶段。过去五年一直在接受透析治疗。她曾多次因食管静脉曲张急性出血而幸存。作者认为该病例很有意义,因为常染色体隐性遗传性多囊肾患者很少能活到成年。

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