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Screening for Renal and Urinary Tract Anomalies in Asymptomatic First Degree Relatives of Children with Congenital Anomalies of the Kidney and Urinary Tract (CAKUT)

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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), non-obstructive 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.

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Authors and Affiliations

  1. Department of Pediatrics, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Pondicherry, 605006, India

    Aravindhan Manoharan, Sriram Krishnamurthy & Palanisamy Sivamurukan

  2. Department of Radiodiagnosis, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Pondicherry, India

    Ramesh Ananthakrishnan

  3. Department of Pediatric Surgery, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Pondicherry, India

    Bibekanand Jindal

Authors
  1. Aravindhan Manoharan
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  2. Sriram Krishnamurthy
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  3. Palanisamy Sivamurukan
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  4. Ramesh Ananthakrishnan
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  5. Bibekanand Jindal
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Contributions

AM, SK, PS and BJ were involved in management of the patients. AM collected the data, reviewed the literature and drafted the manuscript. SK conceptualized the study, prepared the protocol, reviewed the literature and critically revised the manuscript. RA was involved in protocol preparations, supervised the imaging done and critically reviewed the manuscript. PS and BJ critically reviewed the manuscript. All authors contributed to writing the manuscript and approved the final version of the manuscript. SK shall act as guarantor of the paper.

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Correspondence to Sriram Krishnamurthy.

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Manoharan, A., Krishnamurthy, S., Sivamurukan, P. et al. Screening for Renal and Urinary Tract Anomalies in Asymptomatic First Degree Relatives of Children with Congenital Anomalies of the Kidney and Urinary Tract (CAKUT). Indian J Pediatr 87, 686–691 (2020). https://doi.org/10.1007/s12098-020-03262-7

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  • DOI: https://doi.org/10.1007/s12098-020-03262-7

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