Ahlin A, De Boer M, Roos D, Leusen J, Smith C I, Sundin U, Rabbani H, Palmblad J, Elinder G
Department of Paediatrics, Karolinska Institute, Sachs' Children's Hospital, Stockholm, Sweden.
Acta Paediatr. 1995 Dec;84(12):1386-94. doi: 10.1111/j.1651-2227.1995.tb13575.x.
To estimate the prevalence of chronic granulomatous disease (CGD) in Sweden, an inquiry asking for known and possible CGD cases was mailed to paediatric, internal medicine and infectious disease departments all over Sweden. The detected patients were characterized as to genetics and the clinical presentation. Twenty-one patients (belonging to 16 different families) were found, corresponding to a prevalence of approximately 1/450,000 individuals. The patients with X-linked disease, lacking a functional gp91phox protein (n = 12), comprised 57% and 43% of the patients had an autosomal recessive (AR) disease lacking p47phox (n = 7) or p67phox (n = 1), respectively. All unrelated patients with X-linked disease displayed different gene abnormalities such as point mutations predicting nonsense (n = 3), missense (n = 1) or splice site mutations (n = 2), but also a total deletion and a unique 40 base pair duplicature insertion. The patients with p47phox-deficiency showed a GT deletion at a GTGT tandem repeat, and the p67phox-deficient patient displayed a heterozygous in-frame deletion of AAG combined with a large deletion in the other allele. Three patients died during the study period, two from pseudomonas cepacia infections. Patients with X-linked disease had more frequent infections (mean of 1.7 per year), than the patients with AR inheritance (0.5 infections per year). The most common infections were dermal abscesses (n = 111), followed by lymphadenitis (n = 82) and pneumonias (n = 73). Inflammatory bowel disease-like symptoms, mimicking Crohn's disease of the colon, was seen in three CGD patients.
为估算瑞典慢性肉芽肿病（CGD）的患病率，向瑞典各地的儿科、内科和传染病科发送了一份询问已知和可能的CGD病例的调查问卷。对检测出的患者进行遗传学和临床表现特征分析。共发现21例患者（分属16个不同家庭），患病率约为1/450,000。X连锁疾病患者缺乏功能性gp91phox蛋白（n = 12），占患者总数的57%，43%的患者患有常染色体隐性（AR）疾病，分别缺乏p47phox（n = 7）或p67phox（n = 1）。所有非亲属的X连锁疾病患者均表现出不同的基因异常，如预测无义突变的点突变（n = 3）、错义突变（n = 1）或剪接位点突变（n = 2），还有一例完全缺失和一例独特的40个碱基对重复插入。p47phox缺陷患者在GTGT串联重复序列处出现GT缺失，p67phox缺陷患者表现为AAG的杂合框内缺失，另一等位基因存在大片段缺失。研究期间有3例患者死亡，2例死于洋葱伯克霍尔德菌感染。X连锁疾病患者的感染频率（平均每年1.7次）高于AR遗传患者（每年0.5次感染）。最常见的感染是皮肤脓肿（n = 111），其次是淋巴结炎（n = 82）和肺炎（n = 73）。3例CGD患者出现类似克罗恩病的结肠炎症性肠病样症状。
