Kidney and Urinary Tract Center, Abigail Wexner Research Institute at Nationwide Children's Hospital, 700 Children's Drive, Columbus, OH, 43205, USA.
Division of Nephrology and Hypertension, Nationwide Children's Hospital, Columbus, OH, USA.
Pediatr Nephrol. 2024 Jun;39(6):1783-1789. doi: 10.1007/s00467-023-06266-5. Epub 2024 Jan 10.
The prevalence of Müllerian anomalies (MA) among patients with congenital solitary functioning kidney (SFK) is not well defined. A delay in diagnosis of obstructive MA can increase the risk of poor clinical outcomes. This study describes the prevalence of MA in patients with congenital SFK.
A retrospective review was performed of patients within the Nationwide Children's Hospital system with ICD9 or ICD10 diagnostic codes for congenital SFK defined as either unilateral renal agenesis (URA) or multicystic dysplastic kidney (MCDK) and confirmed by chart review. Patients with complex urogenital pathology were excluded. Renal anomaly, MA, reason for and type of pelvic evaluation, and age of diagnosis of anomalies were evaluated.
Congenital SFK occurred in 431 girls due to URA (209) or MCDK (222). Pelvic evaluation, most commonly by ultrasound for evaluation of abdominal pain or dysmenorrhea, occurred in 115 patients leading to MA diagnosis in 60 instances. Among 221 patients ages 10 years and older, 104 underwent pelvic evaluation and 52 were diagnosed with an MA of which 20 were obstructive. Isolated uterine or combined uterine and vaginal anomalies were the most common MA. MA were five-fold more common in patients with URA compared to MCDK. In 75% of patients, the SFK was diagnosed prior to the MA.
The prevalence of MA in patients with congenital SFK was 24% among those age 10 years or older, and 38% were obstructive. This justifies routine screening pelvic ultrasound in girls with congenital SFK to improve early diagnosis.
先天性孤立功能肾（SFK）患者中 Müllerian 异常（MA）的患病率尚不清楚。对梗阻性 MA 的诊断延迟会增加不良临床结局的风险。本研究描述了先天性 SFK 患者中 MA 的患病率。
对全国儿童医院系统中患有先天性 SFK 的患者进行回顾性分析，其 ICD9 或 ICD10 诊断代码为单侧肾发育不全（URA）或多囊性发育不良肾（MCDK），并通过病历复查确认。排除具有复杂泌尿生殖系统病理的患者。评估患者的肾脏异常、MA、盆腔评估的原因和类型以及异常的诊断年龄。
431 名女孩因 URA（209 例）或 MCDK（222 例）发生先天性 SFK。对 115 例患者进行了盆腔评估，最常见的是因腹痛或痛经而行超声检查，导致 60 例 MA 诊断。在 221 名年龄在 10 岁及以上的患者中，有 104 名进行了盆腔评估，其中 52 名被诊断为 MA，其中 20 名是梗阻性的。孤立性子宫或子宫和阴道联合异常是最常见的 MA。与 MCDK 相比，URA 患者的 MA 发生率高 5 倍。在 75%的患者中，SFK 先于 MA 诊断。
年龄在 10 岁及以上的先天性 SFK 患者中，MA 的患病率为 24%，其中 38%为梗阻性。这证明了对先天性 SFK 女孩进行常规筛查盆腔超声检查以改善早期诊断是合理的。
