探讨IgG4相关性疾病(IgG4-RD)的诊断学特征。

回顾性分析2014年4月至2020年9月在山西医科大学第二医院就诊的IgG4-RD患者的临床资料，将患者分为确诊病例组和可能确诊病例组(包括可能诊断和可疑诊断)，观察两组患者在年龄、性别、病程持续时间、IgG4水平等的差异。Spearman相关性分析累及器官个数与病程持续时间的关系。Kruskal-Wallis H检验分析累及器官个数与IgG4水平的关系。

68例IgG4-RD患者中，男女性别比为1.27∶1，中位年龄59(50，65)岁。主要首发临床表现为下颌肿物29例(42.65%)，眼睑肿物11例(16.18%)，其他临床表现为腹痛、腹胀、黄疸、肩腰背部疼痛、鼻塞、流涕、视物模糊、咽部异物感、心绞痛、皮疹、气短、尿崩症等。最常见受累器官主要为淋巴结37例(54.41%)、颌下腺29例(42.65%)、胰腺胆道15例(22.06%)、泪腺11例(16.18%)、腮腺8例(11.76%)、腹膜后纤维化7例(10.29%)。血清IgG4水平>1 350 mg/L 47例(69.12%)。超声局部探查或CT/MRI影像学可表现为1个或多个器官局限或弥漫性肿大、结节、壁增厚、受累器官旁软组织影、淋巴结增大等。有55例进行组织病理学检查，获取病理标本部位常见的为颌下腺(29/55，52.73%)、眼眶肿物(11/55，20.00%)、胰腺(8/55，14.55%)。病理表现为淋巴细胞、浆细胞浸润，部分有嗜酸性粒细胞浸润及纤维组织增生。免疫组化染色IgG4阳性细胞20~50个/HPF，IgG4⁺/IgG⁺ 20%~50%。多数患者采用激素或联合免疫抑制剂治疗后病情转归，2例高龄患者因合并梗阻性肾病、慢性肾功能衰竭死亡。34例确诊患者中，Spearman相关性分析显示病程长短与累及器官个数显著相关(r＝0.33，P＝0.005)；Kruskal-Wallis H检验结果显示受累器官个数与IgG4水平比较，差异无统计学意义(H＝4.73，P＝0.192)。

IgG4-RD临床表现高度异质性，IgG4水平尚不能作为判断疾病严重程度的指标。

To explore the diagnostic features of IgG4-related diseases (IgG4-RD).

The clinical data of IgG4-RD patients treated in the Second Hospital of Shanxi Medical University from April 2014 to September 2020 were retrospectively analyzed, and the patients were divided into a confirmed case group and a probable confirmed case group (including probable and suspected diagnosis). The differences in age, gender, duration of disease and IgG4 levels between the 2 groups were observed. The relationship between the number of organs involved and the duration of the disease was analyzed by the Spearman correlation, and the relationship between the number of organs involved and the level of IgG4 was analyzed by the Kruskal-Wallis H test.

Among the 68 patients with IgG4-RD, the male to female sex ratio was 1.27∶1, and the median age was 59(50, 65) years. In 29 cases (42.65%) and 11 cases (16.18%), mandibular and eyelid enlargement were the first clinical manifestations, respectively. Other clinical manifestations included abdominal pain, abdominal distention, jaundice, shoulder and back pain, nasal congestion, runny nose, blurred vision, pharyngeal foreign body sensation, angina, rash, shortness of breath, uroparesis were also observed, the most commonly affected organs in 37 cases (54.41%), followed by the submandibular gland in 29 cases (42.65%), pancreaticobiliary ducts in 15 cases (22.06%), lacrimal glands in 11 cases (16.18%), parotid glands in 8 cases (11.76%), and retroperitoneal fibrosis in 7 cases (10.29%). Serum IgG4 levels in 47 cases (69.12%) were more than 1 350 mg/L. Local ultrasound exploration or CT/MRI imaging may showed one or more organs with localized or diffuse enlargement, nodules, wall thickening, soft tissue shadowing next to the involved organ, and enlarged lymph nodes. At the location where 55 cases′ pathological specimens were collected, submandibular glands (29/55, 52.73%), orbital masses (11/55, 20.00%), and pancreas (8/55, 14.55%) were frequent. Pathological manifestations included lymphocytic and plasma cell infiltration, as well as eosinophilic infiltration and fibrous tissue hyperplasia in some cases. Immunohistochemical staining showed that there were 20-50/HPF, IgG4⁺ /IgG⁺ 20%-50%. Most patients improved after being treated with hormones or combined immunosuppressants. Two elderly patients died due to obstructive nephropathy and chronic renal failure. Among the 34 confirmed patients, Spearman correlation analysis revealed a significant correlation between the duration of the disease and the number of organs involved (r=0.33, P=0.005). The Kruskal-Wallis H test showed no statistically significant difference between the numbers of organs involved and IgG4 levels (H=4.73, P=0.192).

The clinical manifestations of IgG4-RD are highly heterogeneous, and the level of IgG4 cannot be used to assess the severity of the disease.