Cystic fibrosis in Jordan : clinical and genetic aspects

الملخص EN

Objective : To describe the demographic characteristics, phenotype, genotype, microbiological data, treatment and outcome among Jordanian children with cystic fibrosis .

Design : A prospective Cohort Study .

Setting : Princess Rahma Teaching Hosptial (PRTH).

Methods : All patients with cystic fibrosis seen between 1995 and 2000 inclusive (n = 72).

Clinical and laboratory data were collected on these patients.

Results: There were 37 males and 35 females in the study group.

The mean age of all patients was 4.5 years; the mean age at presentation was 21.2 months; the mean age at diagnosis was 30.7 months and the mean delay of CF diagnosis was 9 months.

Pancreatic exocrine insufficiency was documented in 94 % of cases.

Twenty (27 %) children died, most below the age of 1 year.

Pseudomonas aeruginosa was isolated in 30 % of cases.

Therapeutic measures were suboptimal in the majority of cases.

Consanguineous marriage was present in 70% of cases.

Genetic screening of the study population revealed 20 different Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) mutations with Delta F508 mutation accounting only for 6.3 %.

Conclusion : There is a wide variability in the phenotype and genotype of patients with cystic fibrosis.

Jordanian CF patients have a severe clinical course of disease with genetic and environmental factors may be contributory.