Screening for Renal and Urinary Tract Anomalies in Asymptomatic First Degree Relatives of Children with Congenital Anoma
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ORIGINAL ARTICLE
Screening for Renal and Urinary Tract Anomalies in Asymptomatic First Degree Relatives of Children with Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) Aravindhan Manoharan 1 & Sriram Krishnamurthy 1 & Palanisamy Sivamurukan 1 & Ramesh Ananthakrishnan 2 & Bibekanand Jindal 3 Received: 29 August 2019 / Accepted: 25 February 2020 # Dr. K C Chaudhuri Foundation 2020
Abstract Objective To estimate the frequency of renal and urinary tract anomalies in first-degree relatives of children with Congenital anomalies of kidney and urinary tract (CAKUT). Methods This descriptive study was conducted on parents and siblings of 138 children with CAKUT. Renal ultrasonogram, radionuclide diuretic renogram and micturating cysturethrogram were the tools used for screening these family members. Results Asymptomatic first-degree relatives of 138 children [total of 270 first-degree relatives (95 fathers, 97 mothers and 78 siblings)] were screened, with new anomalies detected in 11 first-degree relatives (4% out of 270 first-degree relatives screened) from 11 families (7.9% out of 138 families screened). The anomalies detected were vesicoureteric reflux (VUR) (n = 2), nonobstructive non-refluxing hydronephrosis (n = 2), pelviureteral junction obstruction (PUJO) (n = 3), Duplex collecting system (n = 1), hypodysplastic kidney (n = 1), single kidney (n = 1) and horseshoe kidney (n = 1). Most of the anomalies were discordant to the index anomaly (66.6%). Among 95 fathers screened, 5 (5.2%) had renal anomalies. Among 97 mothers screened, 2 (2.1%) had renal anomalies. Among the 78 siblings screened, 4 (5.1%) had renal anomalies. Conclusions Familial clustering was noted in 7.9% of the 138 families (of the index cases) screened. The anomalies detected were mostly discordant to the index anomaly. Keywords Congenital anomalies of the kidney and urinary tract (CAKUT) . Screening . Family members
Introduction Congenital anomalies of kidney and urinary tract (CAKUT) are one of the most common congenital anomalies in humans. The prevalence of CAKUT has increased due to the advances in antenatal screening and evaluation of the infant after birth [1]. Prenatal screening has helped in improving the outcomes
* Sriram Krishnamurthy [email protected] 1
Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Pondicherry 605006, India
2
Department of Radiodiagnosis, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Pondicherry, India
3
Department of Pediatric Surgery, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Pondicherry, India
in children with obstructive CAKUTs [2]. CAKUTs contribute significantly to the burden of end-stage renal disease in children [3]. About 45–60% of chronic kidney diseases (CKD) in children are estimated to be due to CAKUT [4]. Increased risk of recurrence among family members has been studied in various studies and is estimated to be around 4– 20% [3]. Phenotype variability from asy
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