ESPN 50th Annual Meeting

ESPN 2017


 
The Frequency of Familial CAKUT
SALIM ÇALIŞKAN 1 EBRU GÖK 1 ADNAN AYVACI 1 AYŞE AĞBAŞ 1 İBRAHIM ADALETLI 1 NUR CANPOLAT 1 FATMA LALE SEVER 1

1- ISTANBUL UNIVERSITY, CERRAHPASA MEDICAL FACULTY, ISTANBUL, TURKEY
 
Introduction:

Congenital abnormalities of the urinary tract and kidney (CAKUT) affect 3-4% of the population. The prevalence of CAKUT is rather frequent in Turkey due to high rates of consanguineous marriages. In the present study, we aimed to determine the prevalence of CAKUT in asymptomatic first-degree relatives of the patients and to emphasize the importance of genetic inheritance.

Material and methods:

All patients followed in the pediatric nephrology outpatient clinic and diagnosed as CAKUT between the years 1998-2016 were evaluated. First-degree relatives with previously undiagnosed CAKUT were invited to take part of this study. Urinary tract ultrasounds were performed by the same radiologist and pedigrees were drawn in the participating families. Patients with incomplete duplex system were not included to the study.

Results:

1228 of 6695 patients (18%) had been diagnosed as CAKUT. A total of 150 CAKUT patients (12%) and their families accepted to participate in the study. Patients with secondary vesicoureteral reflux (VUR) (n=3) and hydronephrosis with extrarenal pelvis (n=2) were excluded; finally 145 patients and their families were enrolled in the study. Urinary malformations of the index cases were VUR (n=46), ureteropelvic junction (UPJ) obstruction (n=16), renal hypodysplasia (n=13), posterior uretral valve (PUV) (n=13), multicystic dysplastic kidney (n=8), renal agenesis (n=5) and other abnormalities (n=44).

Ultrasonographic evaluation was performed on 415 siblings and parents with previously undiagnosed CAKUT. A urinary abnormality was found in 22 first-degree relatives (15%); these were renal agenesis (n=7), renal hypoplasia (n=6), ectopic kidney (n=1), and hydronephrosis (n=8). 

Conclusions:

The rate of familial CAKUT is 15%. This finding emphasizes the importance of performing urinary tract US in the family members of CAKUT patients. Genetic studies may contribute to understand the pathogenesis of CAKUT.