Department of Pediatrics, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research, Chandigarh, 160012, India.
Department of Radiology, Advanced Pediatrics Centre, Post Graduate Institute of Medical Education and Research, Chandigarh, 160012, India.
Clin Exp Nephrol. 2021 Feb;25(2):184-190. doi: 10.1007/s10157-020-01977-7. Epub 2020 Oct 6.
Non-syndromic congenital anomalies of kidney and urinary tract (CAKUT) are usually sporadic in nature but familial clustering of cases have been observed suggesting a genetic predisposition to this condition. We aimed to determine the frequency and pattern of renal anomalies in first-degree relatives of children with non-syndromic CAKUT.
We screened all the first-degree relatives of children with CAKUT. A total of 149 first-degree relatives, belonging to 62 families were screened with ultrasonography.
A renal anomaly was detected in 9 out of the 62 families. Two of these nine families had identical anomalies (child and a parent) indicating single-gene disorders with possible autosomal dominant inheritance, while the rest of families had a non-identical anomaly. The anomalies detected in the first-degree relatives were renal hypodysplasia (n = 2), multicystic dysplastic kidney (n = 3), pelviureteric junction obstruction (n = 2) and mild hydronephrosis (n = 2). The incidence of a sonographically detected anatomic renal anomaly in first-degree relatives of children with CAKUT was found to be 6.0%. Familial cystic kidney disease was found in two out of the 4 families with cystic kidney disease.
Significant renal anomalies were identified in first-degree relatives of children with non-syndromic CAKUT and hence, attempts must be made to screen the family members of children with non-syndromic CAKUT.
非综合征性先天性肾和泌尿道异常（CAKUT）通常是散发性的，但也观察到病例的家族聚集，提示该疾病存在遗传易感性。我们旨在确定非综合征性 CAKUT 患儿一级亲属中肾脏异常的频率和模式。
我们对所有 CAKUT 患儿的一级亲属进行了筛查。共对 62 个家庭的 149 名一级亲属进行了超声筛查。
在 62 个家庭中有 9 个家庭发现了肾脏异常。这 9 个家庭中有 2 个家庭的异常是相同的（孩子和父母），表明存在单基因疾病，可能是常染色体显性遗传，其余家庭的异常则不相同。一级亲属中发现的异常包括肾发育不全（n=2）、多囊性发育不良肾（n=3）、肾盂输尿管交界处梗阻（n=2）和轻度肾积水（n=2）。CAKUT 患儿一级亲属中经超声检查发现的解剖学肾脏异常发生率为 6.0%。在 4 个囊性肾病家庭中有 2 个发现了家族性囊性肾病。
在非综合征性 CAKUT 患儿的一级亲属中发现了明显的肾脏异常，因此必须对非综合征性 CAKUT 患儿的家庭成员进行筛查。
