[Primary immunodeficiencies: report of 33 Pediatric Tunisian cases]

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

Hypocalcaemia due to hypoparathyroidism in beta-thalassemia major: a study of a new case

To report a new case of hypoparathyroidism in a child with beta thalassemia major. We report a case of a 17-year-old Tunisian girl with transfusion-dependent thalassemia major presented with paresthesia and pubertal delay. Laboratory investigations showed hypocalcaemia and hyperphosphatemia. Parathyroid hormone level was low [2 ng/1, normal range: 12-72 ng/1] than expected for the degree of hypocalcaemia. Serum ferritin concentration was 1770ng/ml. The patient was started on oral daily calcium supplementation, Alfa calciferol and intensive iron chelation therapy. Follow-up after 6 and 12 months revealed normal Calcium and ECG showed QT intervalwithin normal range. Investigating calcium homeostasis at regular intervals and early management of any abnormality can preclude the occurrence of complications

[ outcome of 105 Tunisian pediatric patients with sickle cell disease]

Sickle cell disease is widespread in the world. It is a public health problem in Tunisia. In this paper, we will study the outcome of 105 Tunisians infants affected by this disease. It is a retrospective study over 8 years, enrolling 105 Tunisian infants with sickle cell disease. Their main age is 10 years 7 months [19 months-18 years]. They are distributed into 58 boys and 47 girls. Sixty two of them ate homozygotes S/S, and 43 are double heterozygotes [S/, thalassemics 41 cases, S/O arab=1 case, S/C=1 case]. The main acute complications were vaso occlusive crises in 85 patients. They essentially reach the limbs. One hundred and twenty one events acute anemia" were observed. They are distributed into 107 events splenic sequestration [884%] and 14 events erythroblastopenia [11.6%]. Eleven of our patients [10.4%] have presented 16 events ischemic cerebral vascular [strokes]. Twenty events acute chest syndrome were observed in 15 patients [14.3%]. Infectious complications were noted in 83 patients [79%]. The priapism was observed in only 4 boys out of 58. The chronic degenerative complications were as follows: Femur head necrosis in 9 cases, degenerative retinopathy in one case and ulcer leg in one case. Hydroxyurea was reserved to 30 patients with a severe form of the disease. All of them improve the clinical outcome as attested by the number of days of hospitalisation/patient/year, which drops from 30 days to 3 days only [p<0,001]. We not deplore any death. By its complications, sickle cell disease is a potentielly serious disease. Hydroxyurea is an efficient treatment for the most severe forms

[ cord blood bank in Tunisia: usefulness and feasibility]

The cord blood is a souce of hematopoietic stem cells. This have encouraged the creation of many cord blood banks around the world. By this prospective study during 2 years, we tryed to show the advantages of such sources of progenitors, and to evaluate our techniques of collection, freezing, biological and microbiological survey. For this aim, we tested 100 specimens of cord blood before and after defrosting. Our selection criteria were a volume >/= 60 ml, a CD 34+ cells count >/= 2. 10[6], bacteriological and serological negativity. This 100 specimens have an average volume of 95,22 ml, an average nuclear cells count of 10,95.10[6] and an average CD 34+ cells count of 2,96. 10[6]. The average cells viability after defrosting is 96,69%, and the average efficiency rate of 92,11%. The specimens selected according to our selection criterias were of 39%. Our results confirm the feasibility of a cord blood bank in the "Centre National de Transfusion Sanguine" in Tunis

[Leukocyte adhesion deficiency about anew Tunisian case]

Leukocyte adhesion deficiency [LAD] is a rare primary immunedeficiency inherited as an autosomal recessive genetic disorder. LAD was suspected in a four days old girl. She was born from healthy first cousins. A family history of a boy who died from omphalitis and sepsis was reported. Our patient had the severe form, she had delayed umbilical cord separation and suffered recurrent infections. She had a deletion of the G at position 1497. The patient received a bone marrow transplantation from her mother HLA identical at age of 14 months. She is now 9 years old and in a good health

[Osteopetrosis with carbonic anhydrase II deficiency: about 24 cases]

Twenty four patients suffering from osteopetrosis caused by carbonic anhydrase II deficiency are colliged. This pathology seems to be frequent in Tunisia. Mental retardation is present in 52%, 85% of patients have short stature and 25% have optic atrophy. All affected subjects show craniofacial disproportion and dental anomalies. Twenty patients have at least one bone fracture. Metabolic acidosis is constant: it is profound during the first life decade. A severe selective reduction of carbonic anhydrase II in erythrocyte is confirmed in 18 cases. Osteosclerosis and defective skeletal modelling are constant, cerebral calcification can be seen at the scanner approximately at the age of two years and six months. All patients are homozygous for a splice junction mutation in intron 2 of the carbonic anhydrase II gene, this mutation doesn't seem to protect patients from bone fractures nor to induce a severe metabolic acidosis