Observational studyClinical and experimental nephrology2021
Screening of renal anomalies in first-degree relatives of children diagnosed with non-syndromic congenital anomalies of kidney and urinary tract.
Observational study in Clinical and experimental nephrology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 18 citations in OpenAlex.
- Neurodevelopmental Outcomes in Early Childhood Chronic Kidney Disease: Evidence from a Case-control StudyAnnals of neurosciences · 2025Article
- Brain and spine malformations and neurodevelopmental disorders in a cohort of children with CAKUT.Pediatric nephrology (Berlin, Germany) · 2024Article
- GEN1 as a risk factor for human congenital anomalies of the kidney and urinary tract.Human genomics · 2024Article
- The genetics and pathogenesis of CAKUT.Nature reviews. Nephrology · 2023Review
- The genetic basis of congenital anomalies of the kidney and urinary tract.Pediatric nephrology (Berlin, Germany) · 2022Review
- Disease mechanisms of monogenic congenital anomalies of the kidney and urinary tract American Journal of Medical Genetics Part C.American journal of medical genetics. Part C, Seminars in medical genetics · 2022Review
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundNon-syndromic congenital anomalies of kidney and urinary tract (CAKUT) are usually sporadic in nature but familial clustering of cases have been observed suggesting a genetic predisposition to this condition. We aimed to determine the frequency and pattern of renal anomalies in first-degree relatives of children with non-syndromic CAKUT.
methodsWe screened all the first-degree relatives of children with CAKUT. A total of 149 first-degree relatives, belonging to 62 families were screened with ultrasonography.
resultsA renal anomaly was detected in 9 out of the 62 families. Two of these nine families had identical anomalies (child and a parent) indicating single-gene disorders with possible autosomal dominant inheritance, while the rest of families had a non-identical anomaly. The anomalies detected in the first-degree relatives were renal hypodysplasia (n = 2), multicystic dysplastic kidney (n = 3), pelviureteric junction obstruction (n = 2) and mild hydronephrosis (n = 2). The incidence of a sonographically detected anatomic renal anomaly in first-degree relatives of children with CAKUT was found to be 6.0%. Familial cystic kidney disease was found in two out of the 4 families with cystic kidney disease.
conclusionSignificant renal anomalies were identified in first-degree relatives of children with non-syndromic CAKUT and hence, attempts must be made to screen the family members of children with non-syndromic CAKUT.
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