常染色体显性多囊肾病
包装D1
囊性纤维化
医学
囊性纤维化跨膜传导调节器
肾
表型
多囊肾病
病理
内科学
囊肿
突变
内分泌学
遗传学
生物
基因
作者
Nancy Xu,James F. Glockner,Sandro Rossetti,Dusica Babovich-Vuksanovic,Peter C. Harris,Vicente E. Torres
出处
期刊:PubMed
日期:2006-10-19
卷期号:19 (4): 529-34
被引量:26
摘要
Autosomal dominant polycystic kidney disease (ADPKD) is a common, inherited disorder characterized by the progressive enlargement of fluid-filled cysts in the kidneys and liver. Since the cystic fibrosis transmembrane conductance regulator (CFTR) Cl--channel may mediate the secretion of Cl--and fluid into the cysts, it is conceivable that coexisting cystic fibrosis (CF) in patients with ADPKD could attenuate their development. We previously reported that two patients with ADPKD coexisting with cystic fibrosis (CF) had a milder cystic phenotype than that of kindred without CFTR mutations. A subsequent report failed to confirm this protective effect. We now have identified another family with coexisting type 1 ADPKD and CF. The kidney volumes and the number and size of renal and hepatic cysts were markedly less in a member of this family with ADPKD (PKD1 mutation C508R) and CF (homozygous DeltaF508 mutation) than in her sister with ADPKD alone at comparable ages.
科研通智能强力驱动
Strongly Powered by AbleSci AI