La mucoviscidose : à propos d'une observation particulière et une nouvelle mutation

Cystic fibrosis is the most common autosomal recessive genetic disorder in the European population. This disease is caused by mutations in the CFTR gene. It is found on the long arm of chromosome 7. The most usual form associated a respiratory symptomatology (recurrent bronchopathy) and/or a digestive symptomatology (a fatty chronic diarrhoea) with a ponderal stagnation. The diagnosis depends on the rate of the sudoral chlore and must be confirmed by a study of the DNA in a research of the mutation in question. However, the manifestation of the illness will vary from one person to another as well as from the clinical and the molecular point of view. We report a special observation of the mucoviscidose with normal sudoral test carrier of the I 148 T mutation rediscovered from the first in the tunisian population associated with a hypogammaimmunoglobuline and a deficiency in the subclass of the IgG and the IgA categories.