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人畜共患病遇上遗传学:尼泊尔农村一名年轻女性的布鲁氏菌病与吉尔伯特综合征

When Zoonosis Meets Genetics: Brucellosis and Gilbert Syndrome in a Young Woman From Rural Nepal.

作者信息

Shrestha Rayana, Sharma Nava R, Wagle Abhishesh, Pokhrel Madalasa

机构信息

Department of Internal Medicine, Institute of Medicine, Maharajgunj, Kathmandu, NPL.

Department of Internal Medicine, Maimonides Medical Center, Brooklyn, USA.

出版信息

Cureus. 2025 Aug 8;17(8):e89608. doi: 10.7759/cureus.89608. eCollection 2025 Aug.

Abstract

Brucellosis is a neglected zoonotic infection in Nepal that is often underdiagnosed, particularly in regions considered to have low prevalence. Its presentation can mimic autoimmune or hepatic disorders, complicating timely diagnosis and management. Coexistence with hereditary conditions such as Gilbert syndrome can further obscure the clinical picture. We present a case of a 28-year-old woman who presented with progressive jaundice, low-grade fever, arthralgia, and weakness. History revealed recurrent jaundice and similar symptoms in family members. The exam showed scleral icterus and hepatosplenomegaly. Labs indicated anemia, leukopenia, and unconjugated hyperbilirubinemia with normal liver enzymes. Brucellosis was confirmed by positive serology and treated with doxycycline and rifampicin, resolving systemic symptoms. Persistent hyperbilirubinemia and family history suggested underlying Gilbert syndrome. This case highlights the diagnostic complexity when infectious and hereditary causes of jaundice coexist. It emphasizes the need for heightened clinical suspicion for brucellosis even in regions of Nepal not traditionally recognized as endemic. A systematic diagnostic approach is essential in patients with unexplained jaundice, particularly when common infectious and autoimmune causes are excluded.

摘要

布鲁氏菌病是尼泊尔一种被忽视的人畜共患感染病,常常诊断不足,尤其是在那些被认为患病率较低的地区。其临床表现可能类似自身免疫性疾病或肝脏疾病,这使得及时诊断和治疗变得复杂。与吉尔伯特综合征等遗传性疾病并存会进一步掩盖临床症状。我们报告一例28岁女性病例,该患者表现为进行性黄疸、低热、关节痛和虚弱。病史显示家庭成员中有反复黄疸及类似症状。检查发现巩膜黄疸和肝脾肿大。实验室检查显示贫血、白细胞减少以及肝酶正常的非结合性高胆红素血症。血清学检查呈阳性确诊为布鲁氏菌病,采用强力霉素和利福平治疗后,全身症状得以缓解。持续的高胆红素血症和家族病史提示存在潜在的吉尔伯特综合征。该病例凸显了黄疸的感染性和遗传性病因并存时诊断的复杂性。它强调即使在尼泊尔传统上不被认为是布鲁氏菌病流行的地区,也需要提高对布鲁氏菌病的临床怀疑。对于不明原因黄疸的患者,尤其是排除了常见感染性和自身免疫性病因的患者,系统的诊断方法至关重要。

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