ABSTRACT
Background: Primary immunodeficiencies [PID] are a group of heterogeneous and relatively rare diseases
Aim: To determine the clinical characteristics, outcome and genetic data of primary immunodeficiencies in pediatrics patients
Methods: A retrospective, descriptive and multicentered study, enrolling 33 children presenting a PID in Tunis, during a period of 22 years [1991-2012]
Results: A masculine predominance has been noticed with a sex ratio at 2,3. Consanguinity was found in 71% of family cases. History of early infant deaths was found in 42% of cases. The media age of diagnosis was of 1 year 2 months. The median diagnosis delay was of 11 months and 1/2. Most frenquently observed PID were combined immunodeficiency [36%], mostly severe combined immunodeficiency [SCID] [21%], followed by congenial defects of phagocyte function [33%], mostly chronic granulomatosis disease [21%]. Antibody defects were found in 21% of cases. Most frequently observed out comes were lung infections [66%] recurrent oral thrush [57%] and diarrhea [42%]. Most important complications were severe infections and bronchiectasis. 30% of patients were dead by the end of the study. A molecular characterization was performed in 33% of patients, and an antenatal diagnosis was performed in 10% of cases
Conclusion: The PID are a group of disease with variable expressions and etiologies. Their frequency remains understimated in Tunisia, and their management, difficult and insufficient. We suggest the establishment of systematic genetic consulting visit, the creation of a national registry and developing bone marrow transplantation in children in Tunisia
ABSTRACT
Background: The frequency of cystic fibrosis is unknown in Tunisia, regarding the limited number of reported surveys and patients
Aim: to determine the clinical characteristics, outcome and genetic data of cystic fibrosis in Tunisian pediatric patients
Methods: Cases of cystic fibrosis managed at pediatric departments of Tunis, during 15 years [1997-2012], were reviewed
Results:33 children [23 males and 10 females] were enrolled. The Onset was within the first year of life in 26 patients. Revealing symptoms were the following: recurrent bronchopneumonia [28 cases], chronic diarrhea [17 cases], hepatomegaly [6 cases], malnutrition [15 cases], pseudo Bartter syndrome [3 cases], edemaanemia- hypoprotidemia [4 cases] and meconium ileus [4 cases]. The diagnosis was confirmed by sweat test and genotypic data, the F508 del was the most frequent mutation [17 cases]. Several complications had occurred during follow-up: chronic pseudomonas aeruginosa infection [15 cases], chronic respiratory failure [14 cases], recurrent hemoptysis [2 cases], pleural effusion [3 cases] and cirrhosis [2 cases]. Ten patients died at a mean age of 7 years. One patient had pulmonary transplantation. Prenatal diagnosis was performed in 9 families
Conclusion: In Tunisia, cystic fibrosis is not exceptional, but its diagnosis is delayed. Our survey is characterized by more severe earliest forms, difficult and insufficient therapeutic management. A Better medical awareness and a national action plan are needed
ABSTRACT
Hypophosphatasia is a rare inherited disorder characterized by defective bone and teeth mineralization and deficiency of serum and bone alkaline phosphatase activity. Several mutations in the TNSALP gene are identified. The authors describe a Tunisian case having a mutation that has not been described up to now. It is about an infant, in the antecedents of recurring disease of the lungs in child since the age of seven months, which presents clinical and radiological signs of rickets. The diagnosis of hypophos-phatasia is strongly suspected in front of Reduced serum alkaline phosphatase activity and confirmed by the genetic study. The child is homozygous for a new mutation L282P in the ninth exon of the gene. The parents and two brother and sister are heterozygous for the same mutation