肾结核
纤毛病
多囊性肾病
囊性肾病变
纤毛
塔姆-霍斯法尔蛋白
睫状体病
病理
多囊肾病
医学
常染色体显性多囊肾病
肾脏疾病
内科学
胃肠病学
发育不良
囊性纤维化
等位基因
胰腺
肾
疾病
内分泌学
肾发育不良
生物
癌症研究
先天性肝纤维化
门脉高压
遗传学
肝硬化
表型
基因
作者
Pénélope Jordan,Christelle Arrondel,Bettina Bessières,Aude Tessier,Tania Attié‐Bitach,Sarah Guterman,Vincent Morinière,Corinne Antignac,Sophie Saunier,Marie-Claire Gübler,Laurence Heidet
标识
DOI:10.1016/j.kint.2020.09.029
摘要
DNAJB11 (DnaJ Heat Shock Protein Family (Hsp40) Member B11) heterozygous loss of function variations have been reported in autosomal dominant cystic kidney disease with extensive fibrosis, associated with maturation and trafficking defect involving both the autosomal dominant polycystic kidney disease protein polycystin-1 and the autosomal dominant tubulointerstitial kidney disease protein uromodulin. Here we show that biallelic pathogenic variations in DNAJB11 lead to a severe fetal disease including enlarged cystic kidneys, dilation and proliferation of pancreatic duct cells, and liver ductal plate malformation, an association known as Ivemark II syndrome. Cysts of the kidney were developed exclusively from uromodulin negative tubular segments. In addition, tubular cells from the affected kidneys had elongated primary cilia, a finding previously reported in ciliopathies. Thus, our data show that the recessive disease associated with DNAJB11 variations is a ciliopathy rather than a disease of the autosomal dominant tubulointerstitial kidney disease spectrum, and prompt screening of DNAJB11 in fetal hyperechogenic/cystic kidneys.
科研通智能强力驱动
Strongly Powered by AbleSci AI