Internal Medicine Department, Botucatu Medical School, São Paulo State University (UNESP), Av. Prof. Montenegro, S/N - Distrito de Rubião Junior, Botucatu, São Paulo, 18618-687, Brazil.
Radiology Department, Botucatu Medical School, São Paulo State University (UNESP), Botucatu, Brazil.
BMC Gastroenterol. 2022 Sep 4;22(1):406. doi: 10.1186/s12876-022-02477-6.
Common variable immunodeficiency (CVID) is a rare disease that affects children and adults and is often difficult to diagnose. Despite being one of the most frequent causes of immunodeficiency, involving gastrointestinal (GI), respiratory, and hematological systems, the disease onset can have heterogeneous and intermittent symptoms, frequently leading to diagnostic delay. GI symptoms are common and can include diarrhea, but the asymptomatic periods lead to overlooking the recurrent pattern. The same can occur with respiratory infections, thus delaying CVID suspicion. The starting point for CVID diagnosis is the decreased gamma globulin levels in serum protein electrophoresis (SPE), also observed through direct immunoglobulin's dosage.
The patient is a 38 years-old man who had intermittent diarrhea and recurrent airway infections for 19 years, but the CVID diagnosis was achieved only after SPE was carried out. At that time, he was already malnourished, and developed other complications related to CVID in a short period.
SPE is readily available and inexpensive, but is not part of the laboratory approach in diarrhea. According to the case presented herein, it can be useful for patients with recurrent infections or other clues of the disease.
普通变异性免疫缺陷(CVID)是一种罕见的疾病,影响儿童和成人,且通常难以诊断。尽管 CVID 是最常见的免疫缺陷原因之一,涉及胃肠道(GI)、呼吸和血液系统,但疾病发作可能具有异质性和间歇性症状,经常导致诊断延迟。GI 症状很常见,可能包括腹泻,但无症状期会导致忽略复发性模式。呼吸道感染也是如此,从而延迟了对 CVID 的怀疑。CVID 诊断的起点是血清蛋白电泳(SPE)中γ球蛋白水平降低,也可以通过直接免疫球蛋白的剂量来观察到。
患者是一名 38 岁男性,间歇性腹泻和复发性呼吸道感染 19 年,但仅在进行 SPE 后才确诊为 CVID。当时,他已经营养不良,并在短时间内出现了与 CVID 相关的其他并发症。
SPE 易于获得且价格低廉,但不是腹泻实验室方法的一部分。根据本文介绍的病例,对于复发性感染或其他疾病线索的患者,SPE 可能有用。