Department of Pediatrics, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo, 113-8655, Japan.
Department of Pathology, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo, 113-8655, Japan.
CEN Case Rep. 2023 Feb;12(1):122-129. doi: 10.1007/s13730-022-00730-1. Epub 2022 Sep 2.
Congenital anomalies of the kidney and urinary tract (CAKUT) are frequently associated with Mullerian anomalies. This can be explained by the fact that Mullerian duct elongation depends on the preformed Wolffian duct during embryogenesis. While CAKUT such as unilateral renal agenesis and multicystic dysplastic kidney are commonly identified prenatally by routine ultrasound, the diagnosis of Mullerian anomalies is often delayed, increasing the risk of complications such as endometriosis or pelvic inflammatory disease. Herein, we report a case of a premenarchal girl who had initially been diagnosed with right multicystic dysplastic kidney. She presented with continuous urinary incontinence at 4 years old and further evaluation by contrast-enhanced computed tomography, cystoscopy, colposcopy, ureterography, and hysterosalpingography led to the final diagnosis of right hypodysplastic kidney and ectopic ureter associated with bicornuate uterus. A strong family history of uterine malformations prompted the examination of the uterus. Genetic testing was suggested but the family declined. She is planned to be referred to a gynecologist at puberty for further assessment. The recognition and screening rate of concurrent Mullerian anomalies in CAKUT patients varies between institutions. Screening for Mullerian anomalies in prediagnosed CAKUT girls may enable to provide timely counseling and to prevent gynecological complications.
先天性肾和尿路异常(CAKUT)常与苗勒管异常相关。这可以用以下事实来解释:苗勒氏管的伸长依赖于胚胎发生过程中预先形成的沃尔夫氏管。虽然单侧肾发育不全和多囊性发育不良肾等 CAKUT 通常可以通过常规超声在产前识别,但苗勒氏管异常的诊断常常被延迟,增加了子宫内膜异位症或盆腔炎等并发症的风险。在此,我们报告了一名初潮前女孩的病例,她最初被诊断为右侧多囊性发育不良肾。她在 4 岁时出现持续性尿失禁,进一步行增强 CT、膀胱镜、阴道镜、输尿管造影和子宫输卵管造影检查,最终诊断为右侧发育不良肾伴异位输尿管,以及双角子宫。强烈的子宫畸形家族史促使对子宫进行检查。建议进行基因检测,但该家庭拒绝了。计划在青春期时将她转介给妇科医生进行进一步评估。在 CAKUT 患者中,同时存在苗勒氏管异常的识别和筛查率在不同机构之间存在差异。对已诊断的 CAKUT 女孩进行苗勒氏管异常筛查,可能有助于提供及时的咨询,并预防妇科并发症。