The Frequency of Familial Congenital Anomalies of the Kidney and Urinary Tract: Should We Screen Asymptomatic First-Degree Relatives Using Urinary Tract Ultrasonography?

Suman Gok E., Ayvaci A., Agbas A., ADALETLİ İ., CANPOLAT N., Sever L., ...More

NEPHRON, vol.144, no.4, pp.170-175, 2020 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 144 Issue: 4
  • Publication Date: 2020
  • Doi Number: 10.1159/000505402
  • Journal Name: NEPHRON
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, BIOSIS, CAB Abstracts, EMBASE, MEDLINE, Veterinary Science Database
  • Page Numbers: pp.170-175
  • Istanbul University Affiliated: Yes


Introduction: The objectives of this study were to determine the incidence of congenital anomalies of the kidney and urinary tract (CAKUT) in asymptomatic first-degree relatives of patients with a CAKUT diagnosis and to evaluate the benefits of such screening. Methods: Files of patients who were followed up at Cerrahpasa Faculty of Medicine, Pediatric Nephrology Outpatient Clinic, Istanbul University-Cerrahpasa between 1998 and 2016 were examined retrospectively and those with CAKUT were identified. These patients, and their asymptomatic first-degree relatives, were invited to participate in this study. Ultrasonography of the urinary tract was performed in siblings and parents of 145 CAKUT patients (index cases) who could be reached by phone and agreed to participate. Results: A total of 412 asymptomatic first-degree relatives of 145 index patients were screened by ultrasound. CAKUT was diagnosed in 23 individuals among the family members of 21 index subjects. Anomalies detected in asymptomatic first-degree relatives were renal agenesis (RA) and grade 3 hydronephrosis (n = 1), RA (n = 7), renal hypodysplasia (n = 7), grade 2 hydronephrosis (n = 1), and grade 1 hydronephrosis (n = 7). The frequency of familial CAKUT was 14.4%. Familial RA was found in 3 of the 5 families of index cases with RA. Conclusion: The ratio of familial CAKUT was 14.4%. The findings of the present study could not support a systematic family screening to all asymptomatic first-degree relatives; however, family screening with ultrasonography can be considered for children with RA.