Mussaffi H, Greif J, Kornreich L, Ashkenazi S, Levy Y, Schonfeld T, Blau H
Sackler School of Medicine, Tel Aviv University, Ramat Aviv, Israel.
Pediatr Pulmonol. 2000 Feb;29(2):155-9. doi: 10.1002/(sici)1099-0496(200002)29:2<155::aid-ppul11>3.0.co;2-h.
An infant with cystic fibrosis and her asthmatic father were diagnosed as suffering from allergic bronchopulmonary aspergillosis (ABPA). Cystic fibrosis was diagnosed in the infant at 6 weeks of age, and gene mutations were W1282X/G542X. She was diagnosed definitively as suffering from ABPA at age 3.5 years, but had suggestive symptoms from age 11 months. This may be the youngest age described to date for ABPA. The child responded well to systemic steroid therapy, but remained steroid-dependent over the next 4 years. Treatment with itraconazole enabled a marked reduction in steroid dosage. The father was an asthmatic, and a heterozygote for the cystic fibrosis transmembrane regulator (CFTR) mutation W1282X. He had a normal sweat test, atopy, and moderate reversible airway obstruction. There was no proven exposure to Aspergillus in the home environment. The importance of considering the diagnosis of ABPA even in infancy, the therapeutic dilemmas, and the possible role of abnormal CFTR function in the development of ABPA are discussed.
一名患有囊性纤维化的婴儿及其患哮喘的父亲被诊断为患有变应性支气管肺曲霉病（ABPA）。该婴儿在6周龄时被诊断出患有囊性纤维化，基因突变类型为W1282X/G542X。她在3.5岁时被明确诊断为患有ABPA，但从11个月大时就出现了相关症状。这可能是迄今为止报道的ABPA患者中最年轻的年龄。该患儿对全身用类固醇治疗反应良好，但在接下来的4年里仍依赖类固醇。伊曲康唑治疗使类固醇剂量显著减少。父亲患有哮喘，是囊性纤维化跨膜传导调节因子（CFTR）突变W1282X的杂合子。他的汗液试验正常，有特应性体质，存在中度可逆性气道阻塞。家庭环境中未证实有曲霉接触史。本文讨论了即使在婴儿期也需考虑ABPA诊断的重要性、治疗困境以及异常CFTR功能在ABPA发病过程中可能起到的作用。
