Bechir Hamza Children's Hospital of Tunis, Department B.
Centre Hospitalier Universitaire Mongi Slim.
Afr Health Sci. 2020 Mar;20(1):444-452. doi: 10.4314/ahs.v20i1.51.
To establish a preliminary national report on clinical and genetic features of cystic fibrosis (CF) in Tunisian children as a first measure for a better health care organization.
All children with CF diagnosed by positive sweat tests between 1996 and 2015 in children's departments of Tunisian university hospitals were included. Data was recorded at diagnosis and during the follow-up from patients' medical records.
In 12 departments, 123 CF children were collected. The median age at diagnosis was 5 months with a median diagnosis delay of 3 months. CF was revealed mostly by recurrent respiratory tract infections (69.9%), denutrition (55.2%), and/or chronic diarrhea (41.4%). The mean sweat chloride concentration was 110.9mmol/L. At least one mutation was found in 95 cases (77.2%). The most frequent mutations were Phe508del (n=58) and E1104X (n=15). Fifty-five patients had a chronic colonization at a median age of 30 months. Cirrhosis and diabetes appeared at a mean age of 5.5 and 12.5 years respectively in 4 patients each. Sixty-two patients died at a median age of 8 months. Phe508del mutation and hypotrophy were associated with death (p=0.002 and p<0.001, respectively).
CF is life-shortening in Tunisia. Setting-up appropriate management is urgent.
建立突尼斯儿童囊性纤维化（CF）临床和遗传特征的初步国家报告，作为更好的医疗保健组织的第一步措施。
纳入 1996 年至 2015 年间在突尼斯大学医院儿科部门通过阳性汗液试验诊断为 CF 的所有儿童。数据从患者病历中记录在诊断时和随访期间。
在 12 个科室中，共收集了 123 例 CF 患儿。诊断时的中位年龄为 5 个月，中位诊断延迟为 3 个月。CF 主要表现为反复呼吸道感染（69.9%）、营养不良（55.2%）和/或慢性腹泻（41.4%）。平均汗液氯化物浓度为 110.9mmol/L。95 例（77.2%）至少发现一种突变。最常见的突变是 Phe508del（n=58）和 E1104X（n=15）。55 例患者在中位年龄为 30 个月时出现慢性定植。4 例患者分别在平均年龄为 5.5 岁和 12.5 岁时出现肝硬化和糖尿病。62 例患者在中位年龄为 8 个月时死亡。Phe508del 突变和消瘦与死亡相关（p=0.002 和 p<0.001）。
CF 在突尼斯缩短了患者的寿命。建立适当的管理措施迫在眉睫。
