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惠普尔病:大伪装者——高度怀疑是诊断的关键。

Whipple's disease: the great masquerader-a high level of suspicion is the key to diagnosis.

机构信息

Department of Gastroenterology and Emergency Care, Gävle Hospital, Gävle, Sweden.

Department of Anesthesiology and Intensive Care Unit, S:T Göran Hospital, Stockholm, Sweden.

出版信息

BMC Gastroenterol. 2021 Mar 20;21(1):128. doi: 10.1186/s12876-021-01664-1.

Abstract

BACKGROUND

Whipple's disease is a chronic infectious disease that primarily affects the small intestine, but several organs can simultaneously be involved. The disease is caused by a gram-positive bacterium called Tropheryma whipplei. The disease is difficult to suspect because it is rare with unspecific and long-term symptoms; it can be lethal if not properly treated.

CASE PRESENTATION

We here present three patients who presented with a plethora of symptoms, mainly long-standing seronegative arthritis and gastrointestinal symptoms in the form of diarrhea with blood, weight loss, fever, and lymphadenopathy. They were after extensive investigations diagnosed with Whipple's disease, in two of them as long as 8 years after the first occurrence of joint manifestations. The diagnosis was made by PCR targeting the T. whipplei 16S rRNA gene from small bowel specimen in all three patients, and, besides from histopathologic findings from the duodenum and distal ileum in one and mesenteric lymph nodes in another patient.

CONCLUSIONS

This report aims to raise awareness of a very rare disease that presents with a combination of symptoms mimicking other and significantly more common diseases.

摘要

背景

惠普尔病是一种慢性传染病,主要影响小肠,但也有几个器官可能同时受累。这种疾病是由一种叫做 T. whipplei 的革兰氏阳性细菌引起的。由于该病罕见且症状不特异、呈长期存在,因此很难怀疑;如果不进行适当治疗,可能会致命。

病例介绍

我们在此介绍了 3 名患者,他们表现出多种症状,主要为长期存在的血清阴性关节炎和以腹泻伴血便、体重减轻、发热和淋巴结病为表现的胃肠道症状。经过广泛的检查,他们被诊断为惠普尔病,其中 2 例在关节表现出现后长达 8 年才被诊断。所有 3 名患者均通过从小肠标本中针对 T. whipplei 16S rRNA 基因的 PCR 诊断出该病,此外,1 例患者的十二指肠和回肠远端以及另 1 例患者的肠系膜淋巴结的组织病理学检查也发现了该病。

结论

本报告旨在提高对一种表现为多种症状的罕见疾病的认识,这些症状类似于其他更为常见的疾病。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cd4f/7980341/0df3c2571dc2/12876_2021_1664_Fig1_HTML.jpg

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