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

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.