Disease mechanisms of monogenic congenital anomalies of the kidney and urinary tract American Journal of Medical Genetics Part C. Issue 3 (8th October 2022)

• Record Type: Journal Article
• Authors: Connaughton, Dervla M.; Hildebrandt, Friedhelm
• Other Names: Bekheirnia Mir Reza guestEditor.
• Is Part Of: American journal of medical genetics. Volume 190:Issue 3(2022)
• Page Start: 325
• Page End: 343
• Publication Date: 2022-10-08
• Subjects: congenital anomalies of the kidney and urinary tract -- monogenic disease causation -- renal developmental gene; Medical genetics -- Periodicals; 616.04205
• DOI: 10.1002/ajmg.c.32006
• Languages: English
• ISSNs: 1552-4868

Abstract

Abstract: Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) is a developmental disorder of the kidney and/or genito‐urinary tract that results in end stage kidney disease (ESKD) in up to 50% of children. Despite the congenital nature of the disease, CAKUT accounts for almost 10% of adult onset ESKD. Multiple lines of evidence suggest that CAKUT is a Mendelian disorder, including the observation of familial clustering of CAKUT. Pathogenesis in CAKUT is embryonic in origin, with disturbances of kidney and urinary tract development resulting in a heterogeneous range of disease phenotypes. Despite polygenic and environmental factors being implicated, a significant proportion of CAKUT is monogenic in origin, with studies demonstrating single gene defects in 10%–20% of patients with CAKUT. Here, we review monogenic disease causation with emphasis on the etiological role of gene developmental pathways in CAKUT.