Boussetta Khedija, Khalsi Fatma, Bahri Yasmine, Belhadj Imen, Tinsa Faten, Messaoud Taieb Ben, Hamouda Samia
Bechir Hamza Children's Hospital of Tunis, Pediatrics Department B.
Bechir Hamza Children's Hospital of Tunis, Biochemestry Department.
Afr Health Sci. 2018 Sep;18(3):664-670. doi: 10.4314/ahs.v18i3.24.
Cystic fibrosis is rare in Tunisia. Its diagnosis requires experienced specialists. Its prognosis is poor in developing countries.
To study the epidemiologic, clinical, genetic features and the therapeutic challenges of cystic fibrosis in Tunisian children.
Covering a period of 21 years, this retrospective study included all patients with a definite diagnosis of cystic fibrosis from the Pediatrics Department B of The Children's Hospital of Tunis.
Data from 32 children (14 boys and 18 girls) were collected. The diagnosis was made during the first year of life in 28 cases. Meconium ileus was found in 5 cases, respiratory manifestations in 22 cases, chronic diarrhea in 19 cases, faltering growth in 17 cases and a pseudo Barter syndrome in 2 cases. The sweat chloride test was positive in all cases. The most frequent mutation was F508del (56% of cases). Respiratory complications marked the outcome. Among our 32 patients, 15 patients (50%) died at an average age of 5 years and 3 months, mainly due to respiratory failure. The mean age of the surviving patients was 5 years.
Cystic fibrosis prognosis is poor in our series compared to developed countries due to the longer diagnostic delay and the limited therapeutic options.
囊性纤维化在突尼斯较为罕见。其诊断需要经验丰富的专家。在发展中国家,其预后较差。
研究突尼斯儿童囊性纤维化的流行病学、临床、遗传特征及治疗挑战。
这项回顾性研究涵盖21年,纳入了突尼斯儿童医院B儿科所有确诊为囊性纤维化的患者。
收集了32名儿童(14名男孩和18名女孩)的数据。28例在出生后第一年内确诊。5例出现胎粪性肠梗阻,22例有呼吸道表现,19例有慢性腹泻,17例生长发育迟缓,2例有假性巴特综合征。所有病例的汗液氯化物试验均为阳性。最常见的突变是F508del(占病例的56%)。呼吸道并发症影响了预后。在我们的32例患者中,15例(50%)死亡,平均年龄为5岁3个月,主要死于呼吸衰竭。存活患者的平均年龄为5岁。
与发达国家相比,由于诊断延迟较长且治疗选择有限,我们研究系列中囊性纤维化的预后较差。