肉芽肿的病因包括感染,血管炎,化学品,恶性肿瘤,淋巴增生性疾病,和免疫学疾病。我们假设肉芽肿患者患有潜在的原发性免疫缺陷病(PIDD)。
我们在294例经活检证实的肉芽肿患者(0-20岁)中,回顾性纳入了82例进行免疫学评估的患者。同时,我们对同一年龄组的1910名患者进行了随访.
在82名患者中,男女比例为45/37。症状发作的中位年龄为5岁(28天-17.4岁),诊断时肉芽肿的年龄为8.6岁(36天-19.4岁).发病时常见症状为发热(23.2%),淋巴结肿大(19.6%),腹痛(12.2%),咳嗽(12.2%)。肉芽肿多发于淋巴结(26.8%),皮肤(19.5%),肺(13.4%),骨骼(11%)。分离出的常见感染因子是分枝杆菌。(23.2%)和EBV(4.9%)。我们记录了76.8%(63/82)的患者的PIDD。经免疫学评估的肉芽肿患者中有49.4%(40/81)患有低丙种球蛋白血症。小儿PIDD的肉芽肿率为3.3%(63/1910)。多发性肉芽肿患者(n=16)诊断为PIDD。肺部受累在PIDD中增加了三倍。大脑受累仅见于PIDD。在没有记录的PIDD的患者和未完成评估的患者中,纤维脂肪组织和肝脏受累更为频繁。PIDD伴肉芽肿的死亡率为15.9%,而没有PIDD的患者没有死亡。
如本文所述,甚至在大学医院,免疫学评估比率约为三分之一。我们在肉芽肿患儿中显示出较高的PIDD频率,伴有肉芽肿的PIDD死亡率较高。因此,免疫学家精心进行的免疫学评估是准确诊断和决定个性化治疗方案的必要条件.
Granuloma etiology includes infections, vasculitis, chemicals, malignancies, lymphoproliferative disorders, and immunological diseases. We hypothesized that patients with granuloma have an underlying primary immunodeficiency disease (PIDD).
We retrospectively enrolled 82 patients with immunological evaluation among 294 biopsy-proven granuloma patients (0- to 20-year-old). At the same time frame, we followed up with 1910 patients in the same age group.
Out of 82 patients, male/female ratio was 45/37. Median age at symptom onset was 5 years (28 days-17.4 years), age of granuloma at diagnosis was 8.6 years (36 days-19.4 years). Common symptoms at disease onset were fever (23.2%), lymphadenopathy (19.6%), abdominal pain (12.2%), and cough (12.2%). Granuloma was frequent in lymph nodes (26.8%), skin (19.5%), lung (13.4%), and bone (11%). Common infectious agents isolated were Mycobacterium spp. (23.2%) and EBV (4.9%). We document PIDD in 76.8% (63/82) of patients. 49.4% (40/81) of immunologically evaluated granuloma patients had hypogammaglobulinemia. Granuloma rate in pediatric PIDD was 3.3%(63/1910). Patients with multiple granulomas (n = 16) had a PIDD diagnosis. Lung involvement was three times more in PIDD. Brain involvement was only seen in PIDD. Fibroadipose tissue and liver involvement were more frequent in patients without documented PIDD and patients whose evaluation was not completed. The mortality rate in PIDD with granuloma was 15.9%, whereas there was no mortality in patients without PIDD.
As documented here, even in a university hospital, the immunologic evaluation ratio is about one-third. We showed high PIDD frequency in children with granuloma, and higher mortality in PIDD with granuloma. Thus, an immunologic evaluation performed meticulously by immunologists is a must for accurate diagnosis and decision of individualized therapeutic options.