[Primary immune thrombocytopenia in childhood: a regional study in the south of Tunisia]

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

[Primary distal renal tubular acidosis in children in the south of Tunisia: study of 15 cases]

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

[Primary immunodeficiency disorders in 51 cases]

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

[Type I Crigler Najjar syndrome in Tunisia; a study of 30 cases]

Crigler-Najjar syndrome is a rare metabolic disorder characterized by severe unconjugated hyperbilirubinemia resulting in deficiency of bilirubin uridine diphosphate [UDP] glucuronosyltransferase activity in the liver. To study the clinical, genetic therapeutic aspects and the outcome of Crigler Najjar type 1 in Tunisia. This is a retrospective report of Crigler Najjar cases who were hospitalized in pediatric department of Hedi Chaker hospital during 21 years [from 1st January to 31 December 2006]. Our study included 30 cases of Crigler-Najjar syndrome; there were 10 females and 20 males [sex ratio = 2]. The mean age of our patients was 41 days [4 days - 9 months]. All patients were presented with intense jaundice. Sixteen patients had neurologic disorders since admission. Genetic analysis was performed in 9 patients; we identified the same mutation in all cases: -C1070>G in exon 3 of the UDP glucuronyl transferase. Concerning therapeutic measurements, conventional phototherapy was used in all patients. A fatal out come was observed in 28 case; they died of kernicterus. Crigler-Najjar syndrome is a serious disorder which, when not treated, ultimately leads to brain damage [bilirubin encephalopathy] and death. That's why we must promote prenatal diagnosis and genetic council especially because of the big frequency of consanguinity in our country