Donielaitė-Anisė Kamilė, Marozas Rytis, Bumbulienė Žana, Jankauskienė Augustina
Vilnius University Hospital Santaros klinikos, Vilnius, Lithuania Faculty of Medicine, Vilnius University, Vilnius, Lithuania E-mail: ORCID ID.
Radiology and Nuclear Medicine Center, Vilnius University Hospital Santaros Klinikos, Vilnius, Lithuania Faculty of Medicine, Vilnius University, Vilnius, Lithuania E-mail.
Acta Med Litu. 2025;32(1):229-235. doi: 10.15388/Amed.2025.32.1.7. Epub 2025 Feb 18.
The association between urinary tract anomalies and (MDA) is well-known, due to their shared embryonic origin. Disruptions in early development can significantly affect both the kidney and reproductive systems. This article presents two cases illustrating the coexistence of kidney agenesis and MDA in girls, followed by a literature review.
A literature search was conducted on , focusing on publications from 2000 to 2024 by using keywords: 'kidney agenesis', 'renal agenesis', 'Müllerian duct anomalies', 'OHVIRA' (obstructed hemivagina and ipsilateral renal anomaly), and 'Herlyn-Werner-Wunderlich syndrome'. The PRISMA guidelines were followed for the study selection. Additionally, two cases managed at Vilnius University Hospital Santaros Klinikos between 2022 and 2024 are presented.
The literature search yielded 32 articles encompassing data on 43 girls with an average age of 11.8 years. In 54% of the cases, the diagnosis of kidney agenesis was concurrent with identifying MDA. In other cases, kidney anomalies were detected earlier, including 6 cases identified prenatally. Type III MDA, as classified by the , was the most common variety. Premenarche diagnosis of MDA was made in 11.9% of the cases. In more than half of the cases, MDA was identified due to complaints necessitating consultations, mostly leading to urgent surgical interventions. At our hospital, a 9-year-old and a 14-year-old were diagnosed with Herlyn-Werner-Wunderlich syndrome. Kidney agenesis was diagnosed prior to MDA in both cases. For the 9-year-old girl, MDA was found incidentally on ultrasound, while the other required consultation and an urgent surgery due to symptoms.
Unilateral kidney agenesis frequently co-occurs with Müllerian duct anomalies, highlighting the need for comprehensive evaluations in affected patients. An early diagnosis and management of MDA are crucial to prevent complications. An increased clinical awareness and further research are necessary to enhance early detection and patient outcomes.
由于尿路异常与苗勒管异常（MDA）有着共同的胚胎起源，它们之间的关联已广为人知。早期发育的中断会对肾脏和生殖系统都产生重大影响。本文介绍了两例说明女童肾缺如与MDA并存的病例，随后进行文献综述。
对相关文献进行检索，重点关注2000年至2024年发表的文献，使用关键词：“肾缺如”、“肾发育不全”、“苗勒管异常”、“OHVIRA”（梗阻性半阴道和同侧肾异常）以及“赫林-韦纳-温德利希综合征”。研究选择遵循PRISMA指南。此外，还介绍了2022年至2024年在维尔纽斯大学医院圣塔罗斯临床医院诊治的两例病例。
文献检索得到32篇文章，涵盖43名平均年龄为11.8岁女孩的数据。在54%的病例中，肾缺如的诊断与MDA的识别同时进行。在其他病例中，肾脏异常更早被检测到，包括6例产前确诊的病例。按照[相关分类标准]分类的III型MDA是最常见的类型。11.9%的病例在初潮前诊断出MDA。在超过一半的病例中，MDA是由于需要咨询的症状而被识别出来的，大多导致紧急手术干预。在我们医院，一名9岁和一名14岁女孩被诊断为赫林-韦纳-温德利希综合征。两例病例中肾缺如均在MDA之前被诊断出来。对于9岁女孩，MDA是在超声检查时偶然发现的，而另一名女孩由于症状需要咨询并进行紧急手术。
单侧肾缺如常与苗勒管异常同时出现，这凸显了对受影响患者进行全面评估的必要性。MDA的早期诊断和管理对于预防并发症至关重要。提高临床意识并开展进一步研究对于加强早期检测和改善患者预后是必要的。
