肾脏和尿路先天性异常（CAKUT）谱系的遗传咨询挑战。
Challenges in genetic counseling for congenital anomalies of the kidneys and urinary tract (CAKUT) spectrum.
作者信息
Gong Ping, Pelletier Myriam, Silverman Neil, Kuhlman Kathleen, Wallerstein Robert
机构信息
Integrated Genetics, Genetic Counseling and Services, Laboratory Corporation of America, Monrovia, CA, USA.
Department of Obstetrics and Gynecology, David Geffen School of Medicine at UCLA, Center for Fetal Medicine and Women's Ultrasound, Los Angeles, CA, USA.
出版信息
Case Rep Perinat Med. 2022 Apr 20;11(1):20210063. doi: 10.1515/crpm-2021-0063. eCollection 2022 Jan.
OBJECTIVES
Congenital anomalies of the kidneys and urinary tract (CAKUT) are one of the most common sets of congenital defects. Bilateral renal agenesis is a severe presentation of the CAKUT spectrum.
CASE PRESENTATION
We report on two families who presented with recurrent pregnancies affected with bilateral renal agenesis and negative family histories. Likely pathogenic variants in the gene were identified in the affected pregnancies and subsequently in their asymptomatic fathers. The first familial variant was identified by a multi-gene CAKUT panel and the second by whole exome sequencing. Renal ultrasound showed the father in family 1 had asymptomatic unilateral pelvic kidney and the father in family 2 had no apparent renal anomalies.
CONCLUSIONS
Recent identification of genes responsible for CAKUT allows for genetic testing of affected families. Identification of the genetic etiology of CAKUT cases has multiple benefits including accurate risk assessment and reproductive options. Genetic counseling around CAKUT is challenging due to the extreme variability in presentation of the disorders.
目的
先天性肾脏和尿路畸形（CAKUT）是最常见的先天性缺陷之一。双侧肾缺如为CAKUT谱系中的一种严重表现形式。
病例报告
我们报告了两个家族，其反复出现受双侧肾缺如影响的妊娠且家族史为阴性。在受影响的妊娠中以及随后在其无症状的父亲中鉴定出该基因中可能的致病变异。第一个家族性变异通过多基因CAKUT检测板鉴定，第二个通过全外显子组测序鉴定。肾脏超声显示，家族1中的父亲有无症状的单侧盆腔肾，家族2中的父亲无明显肾脏异常。
结论
最近对导致CAKUT的基因的鉴定使得能够对受影响的家族进行基因检测。确定CAKUT病例的遗传病因有多种益处，包括准确的风险评估和生殖选择。由于这些疾病表现的极端变异性，围绕CAKUT的遗传咨询具有挑战性。
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