Congenital hepatic fibrosis in an adult female combined with Von Meyenburg complex and autosomal dominant polycystic kidney disease: a case report.

Frontiers in gastroenterology (Lausanne, Switzerland) Pub Date : 2026-07-24 eCollection Date: 2026-01-01 DOI:10.3389/fgstr.2026.1876545

Xinrui Ren, Yu Cui, Jiayi Song, Yiwen Tang, Xiaoying Xie, Wanchun Zhu, Zhuo Yu, Lingying Huang, Yueqiu Gao

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Abstract

Background: Congenital hepatic fibrosis (CHF) is a rare disease associated with the polycystic kidney gene, and the initial symptoms are often associated with portal hypertension, such as splenomegaly and esophageal varices. While the basic clinical features and pathogenesis of isolated CHF have been thoroughly studied, patients frequently present variable combined phenotypes including autosomal dominant polycystic kidney disease (ADPKD) and Von Meyenburg complex (VMC). The pathogenic mechanisms driving these composite phenotypes require further exploration.

Methods and results: We report a case of an adult female patient who was admitted due to unexplained upper gastrointestinal bleeding. Upon admission, the patient was diagnosed with congenital hepatic fibrosis in conjunction with VMC and ADPKD, based on findings from liver puncture biopsy, exome sequencing (ES), biochemical tests, and imaging examinations.

Conclusions: The PKD1 gene is the causative gene for this patient's CHF combined with VMC and ADPKD.

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成年女性先天性肝纤维化合并Von Meyenburg复合体和常染色体显性多囊肾病1例报告

背景：先天性肝纤维化（CHF）是一种与多囊肾基因相关的罕见疾病，其初始症状通常与门脉高压相关，如脾肿大和食管静脉曲张。虽然已对分离性CHF的基本临床特征和发病机制进行了深入研究，但患者经常出现可变的组合表型，包括常染色体显性多囊肾病（ADPKD）和Von Meyenburg复合物（VMC）。驱动这些复合表型的致病机制需要进一步探索。方法与结果：我们报告一例因不明原因的上消化道出血而入院的成年女性患者。入院时，根据肝穿刺活检、外显子组测序（ES）、生化检查和影像学检查的结果，患者被诊断为先天性肝纤维化，并伴有VMC和ADPKD。结论：PKD1基因是该患者CHF合并VMC和ADPKD的致病基因。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Frontiers in gastroenterology (Lausanne, Switzerland)

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