Screening of renal anomalies in first-degree relatives of children diagnosed with non-syndromic congenital anomalies of
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ORIGINAL ARTICLE
Screening of renal anomalies in first‑degree relatives of children diagnosed with non‑syndromic congenital anomalies of kidney and urinary tract Aarthi Viswanathan1 · Lesa Dawman1 · Karalanglin Tiewsoh1 · Akshay Kumar Saxena2 · Sourabh Dutta1 · Deepti Suri1 Received: 21 August 2020 / Accepted: 14 September 2020 © Japanese Society of Nephrology 2020
Abstract Background Non-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. Methods We 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. Results A 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. Conclusion Significant 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. Keywords Congenital anomalies of the kidney and urinary tract (CAKUT) · First–degree relatives · Renal anomalies · Screening · Ultrasonography
* Deepti Suri [email protected] Aarthi Viswanathan [email protected] Lesa Dawman [email protected] Karalanglin Tiewsoh [email protected] Akshay Kumar Saxena [email protected] Sourabh Dutta [email protected] 1
Department of Pediatrics, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research, Chandigarh 160012, India
Department of Radiology, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research, Chandigarh 160012, India
2
Introduction Congenital anomalies of the kidney and urinary tract (CAKUT) comprise a wide range of structural and functional renal malformations that occur at the level of the kidney, collecting system, bladder or urethra [1–3]. The prevalence of CAKUT reported in literature is 3–6 per 1000 live births [4]. Ultrasound is a very effective diagnostic modality for identifying anomalies of the fetal urinary tract, as early as 12–15 weeks of gestation [5]. During the antenatal period, the prevalence of CAKUT detected has been reported to be 0.1–0.7% [6]. A single umb
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