医学
肾发育不良
发病机制
肾脏疾病
泌尿系统
肾脏发育
肾
肾发育不全
多囊性发育不良肾
发育不良
儿科
病理
内科学
遗传学
基因
生物
胚胎干细胞
作者
Kirsten Y. Renkema,Paul Winyard,Ilya Skovorodkin,Elena Levtchenko,An Hindryckx,C. Jeanpierre,Stefanie Weber,Rémi Salomon,Corinne Antignac,Seppo Vainio,Andreas Schedl,Franz Schaefer,Nine V.A.M. Knoers,Ernie M.H.F. Bongers
摘要
Congenital anomalies of the kidney and urinary tract (CAKUT) are the commonest cause of chronic kidney disease in children. Structural anomalies within the CAKUT spectrum include renal agenesis, kidney hypo-/dysplasia, multicystic kidney dysplasia, duplex collecting system, posterior urethral valves and ureter abnormalities. While most CAKUT cases are sporadic, familial clustering of CAKUT is common, emphasizing a strong genetic contribution to CAKUT origin. Animal experiments demonstrate that alterations in genes crucial for kidney development can cause experimental CAKUT, while expression studies implicate mislocalization and/or aberrant levels of the encoded proteins in human CAKUT. Further insight into the pathogenesis of CAKUT will improve strategies for early diagnosis, follow-up and treatment. Here, we outline a collaborative approach to identify and characterize novel factors underlying human CAKUT. This European consortium will share the largest collection of CAKUT patients available worldwide and undertake multidisciplinary research into molecular and genetic pathogenesis, with extension into translational studies to improve long-term patient outcomes.
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