Association between the clinical presentation of congenital anomalies of the kidney and urinary tract (CAKUT) and gene mutations: An analysis of 66 patients at a single institution
Pediatric Nephrology Jun 20, 2019
Ishiwa S, et al. - In this retrospective cohort study, researchers explored the link between the clinical presentation of congenital anomalies of the kidney and urinary tract (CAKUT) and gene mutations. Participants were patients with CAKUT who underwent gene analysis and had bilateral renal lesions, extrarenal complications, or a family history of renal disease. They analyzed data from the diagnosis, gene mutations, and other complications. Of 66 patients included, 14 patients had gene mutations. In most of the patients with hypodysplastic kidney with multicystic dysplastic kidney, HNF1β gene mutation was present. Findings revealed a significant link between CAKUT with bilateral renal lesions and gene mutations. In cases of bilateral renal lesions, considering CAKUT-related gene analysis is recommended in this study. Patients with lower urinary tract obstruction had no gene mutations. For each gene mutation, renal prognosis varied.
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