Shanks Anne-Marie, Alluri Ratna, Herriot Richard, Dempsey Owen
Core Medical Trainee, NHS Grampian, Aberdeen, Aberdeenshire, UK.
BMJ Case Rep. 2014 Apr 1;2014:bcr2013202806. doi: 10.1136/bcr-2013-202806.
We present details of a man who was originally diagnosed with sarcoidosis, based on a combination of nodal granulomatous inflammation and radiology confirming bilateral hilar lymphadenopathy with pulmonary infiltrates. The patient subsequently developed splenomegaly and idiopathic thrombocytopenic purpura (ITP) and, latterly, a severe cavitating pneumonia. Serum immunoglobulins were checked, confirming panhypogammaglobulinaemia, and his diagnosis was revised to common variable immune deficiency (CVID). CVID is a heterogeneous condition, which can mimic sarcoidosis with granulomatous organ involvement and is commonly complicated by autoimmune disorders, including ITP. Prompt recognition is important to allow early introduction of immunoglobulin replacement therapy to decrease infection frequency, reduce development of secondary disease complications and retard progression of tissue damage. Given the potential for misdiagnosis and delay in recognition of CVID, serum immunoglobulin measurement should be a first-line investigation in patients with suspected sarcoidosis, even if the presentation is 'typical'. Current international sarcoidosis guidelines should be revised accordingly.
我们介绍了一名男子的详细情况，他最初因结节性肉芽肿性炎症以及影像学检查证实双侧肺门淋巴结肿大伴肺部浸润而被诊断为结节病。该患者随后出现脾肿大和特发性血小板减少性紫癜（ITP），后来又出现严重的空洞性肺炎。检查血清免疫球蛋白，证实存在全低丙种球蛋白血症，其诊断被修订为普通可变免疫缺陷（CVID）。CVID是一种异质性疾病，可表现为肉芽肿性器官受累从而酷似结节病，并且常并发包括ITP在内的自身免疫性疾病。及时识别对于尽早开始免疫球蛋白替代治疗以降低感染频率、减少继发性疾病并发症的发生以及延缓组织损伤进展非常重要。鉴于CVID存在误诊及识别延迟的可能性，血清免疫球蛋白测定应作为疑似结节病患者的一线检查项目，即便其表现“典型”。当前的国际结节病指南应相应修订。
