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
The acute tubular necrosis [ATN] is common after kidney transplantation. Acute tubular necrosis [ATN] is multifactorial and represents one of the main causes of the delayed graft function. Its impact on graft and patients survival is documented. To study the prevalence of the ATN in kidney transplanted patients, the acute rejection rate and their impact on the graft and the patient survival. We retrospectively studied the frequency of ATN, its causes and its impact on patient and graft survival in 255 kidney transplanted patients between1986-2006. Thirty-nine patients had ATN [15.29%]. They are 25 men and 14 women with mean age of 30.1 +/- 12.6 years [8-61] followed for an average of 98 +/- 61.76 months. The majority was treated by hemodialysis [79.48%] and half of them were transplanted from kidney of deceased donor. All patients received anti lymphocyte serum and the majority anticalcineurins [69.23%].The outcome was favorable in 26 patients [66.66%] with recovery of diuresis and normalization of renal function after 6 weeks on average. An acute rejection was diagnosed in 21 patients [53.48%]. The mean creatinine at 1, 5 and 10 years was 135.3, 159.9 and 121.4 micromol / l. Eight patients had creatinine