ABSTRACT
Background: Ataxia-telangiectasia [A-T] is a multisystem disorder characterized by progressive neurologic impairment, variable immunodeficiency, impaired organ maturation, X-ray hypersensitivity, oculocutaneous telangiectasia, and a predisposition to malignancy
Aim: We performed this study in order to describe clinical, immunological and molecular features of patients with AT followed in the south of Tunisia
Methods:we performed a retrospective study [1996-2012] in the south of Tunisia about all cases of A-T in order to describe their clinical, immunological and molecular features
Results:11 cases of AT were found. The mean age at onset of symptoms was 20 months with extremes varying from 3 months to 4 years. The median time to diagnosis was 3.6 years [range: 0-12 years].The main clinical feature of cerebellar syndrome, ataxia, was present at diagnosis in 8 patients and occurred at mean ages of 2.8 years. Ocular telangiectasia occurred at a mean age of 3.9 years [extremes: 3 months and 7 years]. Recurrent sino-pulmonary infections that affected 7 children occurred at the mean age of 4.3 years. The most common humoral immune abnormality was serum IgA deficiency. Lymphopenia was found in 7 cases and lack of CD4 T in 6 cases. Cytogenetic analyses showed chromosomal instability in all children and a translocation [7-14] in two patients. A molecular diagnosis established in 6 patients from 4 families showed 5 different mutations of ATM gene. After an average decline of 5 years and 6 months, 7 patients died of severe pulmonary infection. Among them, 3 were ATM mutated
Conclusion: Morbidity and mortality among patients with A- T are associated with ATM genotype
ABSTRACT
The primary immune thrombocytopenia [ITP] in children has a favorable evolution in most of cases. Describe the epidemiological and therapeutic data and the outcome of primary immune thrombocytopenia in our patients and propose a treatment plan to standardize the management of this disease in our region. We conducted a retrospective study of 140 cases of primary immune thrombocytopenia collected in department of pediatrics and hematology of Hedi Chaker hospital during a period of 15 years. Patients who had a platelet count < = 20 000 and / or mucosal or troublesome lifestyle hemorrhage were treated. The mean age was 6 years 7months with extremes varying from 3 months to 15 years. The bleeding manifestations were dominated by cutaneous bleeding in the form of petechiae or bruise [100%]. Epistaxis and gingivorragia were noted in 32,9% and 25,7% of the cases respectively. The most of patient were treated with corticosteroids [79%]. Intravenous immunoglobulin was associated with corticosteroids in 7%. An acute ITP occurred in 94 cases [67%] and a chronic ITP in 30 cases [21%]. In the recently diagnosed ITP, the response delay under association Intravenous immunoglobulin and corticoids is shorter than that of corticoids alone, but the high cost of Intravenous immunoglobulin associated with their immediate side effects compels us to recommend corticoids as a first line of treatment
ABSTRACT
Primary immunodeficiency disorders [PID] are a heterogeneous group of diseases, characterized by an increased susceptibility to infections. To determine the frequency of PID in south of Tunisia to collect information on clinical experience with these disorders. Over a period of 16 years [1995 - 2010], primary immunodeficiency was confirmed in 51 patients [31 boys and 20 girls]. The immunological investigation included a study of specific and/or non specific humoral and cellular immunity. These 51 patients belonged to 47 families among which 37 were consanguine [80%]. The immunological investigations revealed a cellular or combined immunodeficiency in 21 cases, with a majority of ataxia-telangiectasia syndromes [11 cases], HLA class II deficiency [9 cases]. A predominant antibody defect was found in 3 patients and a chronic granulomatous disease in seven cases. Deaths occurred So far in 19 patients [37 %]. PID are relatively frequent in Tunisia, probably because of the high rate of consanguinity among the general population. The distribution of the different groups of primary immunodeficiencies is characterized by high frequency of ataxia - telangiectasia and HLA class II deficiency
Subject(s)
Humans , Male , Female , Immunity, Cellular , Immunity, Humoral , Consanguinity , Ataxia Telangiectasia , Severe Combined ImmunodeficiencyABSTRACT
Primary distal renal tubular acidosis in children [RTA] is characterized by metabolic acidosis due to defect in urinary excretion of hydrogen [H+] in the distal tubular. To report the epidemiological, clinical, therapeutic and evolutionary of distal RTA in our patients. Patients and methods: We conducted a retrospective study of all cases of distal RTA collected in the department of pediatrics of Hedi Chaker University hospital in the south of Tunisia, during a period of 23 years [1988-2010]. We studied the epidemiological, clinical, biological, evolutionary and therapeutic data. During the study period 15 cases of distal RTA were collected. The average age was 6 months [1 month -2 years]. Most common presenting symptoms were vomiting [8cases], failure to thrive [4cases], lack of appetite, polyuria-polydipsia syndrome [1case] and urinary infection [2cases]. The clinical examination showed staturoponderal delay [9 cases], dehydration [6 cases], signs of rickets [3 cases] and polyuria [10 cases]. Biological data showed high urine pH in the presence of metabolic acidosis in 11 cases, hypokalaemia in 10 cases and hypercalciuria in all cases. Urine acidification test with ammonium chloride was performed in 4 cases, the urinary pH was always higher than 5.5 in all cases. Ammoniuria performed in 9 cases was less than 40mmol/l. Radiological investigation objectified a nephrocalcinosis in fourteen patients and signs of rickets in three cases. Deafness was found in three patients. Genetic study performed in two cases showed mutation of ATP6V1B1 gene. The medical treatment involved an alkali load. Long-term outcome was favorable in 7 cases. The distal renal tubular acidosis is a rare pathology in our country but probably under diagnosed. The clinical gravity of this disease and the risk of evolution towards the terminal renal insufficiency justify an antenatal diagnosis to establish a neonatal management or propose a therapeutic interruption of the pregnancy if the distal RTA is associated with a severe pathology
ABSTRACT
Cholelithiasis is a rare finding in children, even though recent series show increased detection of this disease. Our objective is to describe epidemiological aspects, clinical aspects and aetiologies as well as to evaluate the management of cholelithiasis in our centre; a paediatric hospital in Sfax in Tunisia. A retrospective study was performed in children with a diagnosis of cholelithiasis between 1979 and 2008 in the paediatric department of Hdi Chaker University Hospital [Sfax Tunisia]. Cholelithiasis was detected in 19 patients, including 9 males and 10 females. The median age at diagnosis was 7.8 years [range: 6months to 15 years]. The associated conditions were haemolytic diseases in seven cases; hepatobiliary diseases in five; growth hormone deficiency in two; and dehydration. Down syndrome, immunoglobulin A deficiency and hypocalcaemia in one case. However, in one patient no associated condition was detected. Ultrasound was used for diagnosis in all the patients. Thirteen patients had no cholelithiasis associated symptoms and 6 patients were symptomatizing. The most frequent symptoms were abdominal pain, either with or without vomiting or jaundice. Thirteen patients underwent surgery [open cholecystectomy in seven and laparoscopic cholecytectomy in six patients]. In a single patient, immediate surgery was indicated but was not possible because of haemodynamic instability. Cholelithiasis is an increasingly recognized disease in children. It is often associated with chronic haemolysis and hereditary hepatobiliary disease in Tunisia. Even though it is more frequently non-symptomatizing, the gallstones must be removed in the majority of cases