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[囊性肾病(常染色体显性多囊肾病)]

[Cystic kidneys (autosomal dominant polycystic kidney disease)].

作者信息

Zeier M, Geberth S

机构信息

Sektion Nephrologie, Medizinische Universitätsklinik Heidelberg.

出版信息

Ther Umsch. 1994 Dec;51(12):801-6.

PMID:7784992
Abstract

Polycystic kidney disease is a rather common genetic disorder, with an estimated amount of 8 to 10% of patients in the dialysis population. Meanwhile the defective gene of autosomal dominant polycystic kidney disease [ADPKD], another common terminus for this disorder, has been localized on the short arm of chromosome 16. The genetic disorder is not strictly localized on the kidney, whereas other organ systems like cardiac valves, brain arteries, liver, colon, etc. may be involved in the disease process. Hypertension is an early and common feature of the disease and its probably an important factor for progression of renal failure in ADPKD. Not all carriers of the ADPKD-trait progress to endstage renal failure, about 50% at the age of 50 years. Patients with ADPKD have a good prognosis in renal replacement therapy programs such as dialysis or renal transplantation.

摘要

多囊肾病是一种相当常见的遗传性疾病,据估计,透析人群中有8%至10%的患者患有此病。同时,常染色体显性多囊肾病(ADPKD)——该疾病的另一个常见结局——的缺陷基因已定位在16号染色体的短臂上。这种遗传性疾病并不局限于肾脏,心脏瓣膜、脑动脉、肝脏、结肠等其他器官系统也可能参与疾病进程。高血压是该疾病早期常见的特征,可能是ADPKD患者肾衰竭进展的重要因素。并非所有携带ADPKD特征的人都会发展为终末期肾衰竭,50岁时约有50%的人会如此。ADPKD患者在透析或肾移植等肾脏替代治疗项目中的预后良好。

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