The clinical presentations of 12 children with cystic fibrosis seen in King Khalid University Hospital are presented.
Ten were of Saudi origin and the other two were African.
The mean age of onset of symptoms was 2.3 months, and the mean age at diagnosis was 14.3 months (range 3-48 months).
Seven children were boys and five were girls.
All children presented with growth failure, recurrent chest infection and chronic diarrhoea.
The parents of 83% of our cases were first-degree relatives.
Pseudo-Bartter syndrome was seen in eight children.
Sixty-seven per cent of our cases were colonized with Pseudomonas aeruginosa by the time of diagnosis, despite their young age (mean 7 months).
Peripheral neuropathy secondary to vitamin E deficiency, meconium ileus, nasal polyps and gall-stones were present, each in one case.
On follow-up, one child died and the other 11 are still alive.
We concluded that cystic fibrosis is not rare in Saudi Arabia and that increased awareness of the disease is needed to avoid delay in diagnosis.
Efforts should be made to prevent early colonization by Pseudomonas aeruginosa.
Mots-clés Pascal : Appareil digestif pathologie, Pancréas pathologie, Appareil respiratoire pathologie, Métabolisme pathologie, Maladie héréditaire, Diagnostic, Epidémiologie, Nourrisson, Homme, Enfant, Arabie Saoudite, Asie, Mucoviscidose
Mots-clés Pascal anglais : Digestive diseases, Pancreatic disease, Respiratory disease, Metabolic diseases, Genetic disease, Diagnosis, Epidemiology, Infant, Human, Child, Saudi Arabia, Asia, Cystic fibrosis
Notice produite par :
Inist-CNRS - Institut de l'Information Scientifique et Technique
Cote : 96-0032805
Code Inist : 002B22D05. Création : 01/03/1996.