中国麻风皮肤病杂志 ›› 2026, Vol. 42 ›› Issue (9): 665-667.doi: 10.12144/zgmfskin202609665

• 病例报告 • 上一篇    下一篇

以慢性腹泻为首发症状的原发性肥大性骨关节病一例

朱志源,华薇,王涛,刘宏杰,薛斯亮   

  1. 四川大学华西医院，四川成都，610041
  • 出版日期:2026-09-15 发布日期:2026-09-02

Primary hypertrophic osteoarthropathy initially manifested as chronic diarrhea: a case report

ZHU Zhiyuan, HUA Wei, WANG Tao, LIU Hongjie, XUE Siliang   

  1. West China Hospital of Sichuan University, Chengdu 610041, China
  • Online:2026-09-15 Published:2026-09-02

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摘要： 原发性肥大性骨关节病（primary hypertrophic osteoarthropathy, PHO）是一种罕见的常染色体隐性遗传病，分为PHOAR1、PHOAR2亚型，PHOAR2型由SLCO2A1基因突变所致，常伴慢性腹泻等消化道非典型症状易造成误诊。本文报道1例22岁男性患者，反复腹痛、稀便、柏油样便6年，多次消化科对症治疗仅短暂缓解，5年前逐渐出现对称性杵状指（趾），腹泻加重半年来诊，指甲病理见真皮黏液变性，胃肠镜提示慢性非萎缩性胃炎、直肠炎，幽门螺杆菌阳性，全外显子组测序检测发现SLCO2A1基因剪接位点致病性变异（c.941-1G＞A），最终确诊为PHOAR2型原发性肥大性骨关节病。

关键词: 原发性肥大性骨关节病, 慢性腹泻, SLCO2A1, 杵状指, 基因诊断

Abstract: Primary hypertrophic osteoarthropathy (PHO) is a rare autosomal recessive hereditary disease classified into two subtypes, PHOAR1 and PHOAR2. PHOAR2 is caused by mutations in the SLCO2A1 gene, and patients often present with atypical gastrointestinal manifestations such as chronic diarrhoea, which easily leads to misdiagnosis. This paper presents a 22-year-old male patient who suffered from recurrent abdominal pain, loose stools and tarry stools for six years; symptomatic treatments administered repeatedly by the gastroenterology department only achieved transient relief. Symmetric digital clubbing gradually developed five years after disease onset, and the patient presented to hospital with aggravated diarrhoea in the latest half year. Nail histopathology revealed dermal mucinous degeneration. Gastrointestinal endoscopy showed chronic non-atrophic gastritis and proctitis combined with positive Helicobacter pylori infection. Whole-exome sequencing identified a pathogenic splice-site variant (c.941-1G＞A) in the SLCO2A1 gene, confirming the diagnosis of PHOAR2-type primary hypertrophic osteoarthropathy.

Key words: primary hypertrophic osteoarthropathy, chronic diarrhea, SLCO2A1, digital clubbing, genetic diagnosis