[Cystic fibrosis: A report of 33 pediatric Tunisian cases].

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.

History of settlement of villages from Central Tunisia by studying families sharing a common founder Glycogenosis type III mutation.

Glycogen storage disease type III (GSD III; Cori disease; Forbes disease) is an autosomal recessive inherited metabolic disorder resulting from deficient glycogen debrancher enzyme activity in liver and muscle. In this study, we focused on a single AGL gene mutation p.W1327X in 16 Tunisian patients from rural area surrounding the region of Mahdia in Central Tunisia.

New C1q mutation in a Tunisian family.

Hereditary C1q deficiency (C1qD) is the most penetrant genetic factor predisposing to the development of lupus pathology with more than 93% of C1q deficient patients developing this autoimmune pathology throughout their life. It is a rare autosomal recessive deficiency, with only 67 cases reported so far including one Tunisian girl who died at the age of three from complications resulting from severe systemic lupus erythematosus. Although C1qD was confirmed in the serum of this patient using C1q ELISA and classical pathway specific functional assays, no DNA sample had been obtained from this patient.

Molecular and biochemical characterization of a novel intronic single point mutation in a Tunisian family with glycogen storage disease type III.

Genetic deficiency of the glycogen debranching enzyme causes glycogen storage disease type III, an autosomal recessive inherited disorder. The gene encoding this enzyme is designated as AGL gene. The disease is characterized by fasting hypoglycemia, hepatomegaly, growth retardation, progressive myopathy and cardiomyopathy.

Velaglucerase alfa enzyme replacement therapy compared with imiglucerase in patients with Gaucher disease.

Enzyme replacement therapy for Gaucher disease (GD) has been available since 1991. This study compared the efficacy and safety of velaglucerase alfa with imiglucerase, the previous standard of care. A 9-month, global, randomized, double-blind, non-inferiority study compared velaglucerase alfa with imiglucerase (60 U/kg every other week) in treatment-naïve patients aged 3-73 years with anemia and either thrombocytopenia or organomegaly.

Enzyme replacement therapy with velaglucerase alfa in Gaucher disease: Results from a randomized, double-blind, multinational, Phase 3 study.

Type 1 Gaucher disease (GD1), resulting from glucocerebrosidase deficiency, leads to splenomegaly, hepatomegaly, anemia, thrombocytopenia, and bone involvement. Current standard treatment is enzyme replacement therapy. Velaglucerase alfa is an enzyme replacement product for GD1, with the same amino acid sequence as naturally occurring human glucocerebrosidase.

High frequency of W1327X mutation in glycogen storage disease type III patients from central Tunisia.

Glycogen storage disease type III (GSD III) is an autosomal recessive disorder caused by the deficiency of glycogen debranching enzyme (AGL). It is characterized by hepatomegaly, progressive myopathy, cardiomyopathy and fasting hypoglycemia. Several mutations in AGL gene have been described in different populations.

Hurler disease (mucopolysaccharidosis type IH): clinical features and consanguinity in Tunisian population.

Unlabelled: Mucopolysaccharidosis type I (MPS I) was a group of rare autosomal recessive disorder caused by the deficiency of the lysosomal enzyme, alpha -L -iduronidase, and the resulting accumulation of undergraded dematan sulfate and heparan sulfate. MPS I patients have a wide range of clinical presentations, that makes it difficult to predict patient phenotype which is needed for genetic counseling and also impedes the selection and evaluation of patients undergoing therapy bone marrow transplantation.

Aim Of The Study: consanguinity rates have been determined among 14 families with mucopolysaccharidosis type I, seen in the pediatric departments of different geographic areas of Tunisia (Central and Southern areas) for the period August 2004 - August 2011 in order to investigate the relation between consanguinity and this disorder.

Phenylketonuria is still a major cause of mental retardation in Tunisia despite the possibility of treatment.

Background And Objective: Accumulation of phenylalanine following a deficiency of phenylalanine hydroxylase activity generates a brain damage with mental retardation: phenylketonuria (PKU). In the developing countries, where PKU systematic neonatal screening program is not established yet, the management of PKU handicap is not properly carried out. The aim of this study was to estimate the frequency of the PKU diagnosed following clinical features anomalies, to provide information about the untreated PKU patients profile in Tunisia not covered by neonatal screening.

Mucopolysaccharidosis type I: molecular characteristics of two novel alpha-L-iduronidase mutations in Tunisian patients.

Background: Mucopolysaccharidosis type I (MPS I) is an autosomal storage disease resulting from defective activity of the enzyme α-L-iduronidase (IDUA). This glycosidase is involved in the degradation of heparan sulfate and dermatan sulfate. MPS I has severe and milder phenotypic subtypes.

[Rosai -Dorfman disease: a two cases report].

Background: Rosai-Dorfman disease (RDD) is a benign lymphoproliferatif disorder characterized by cervical lymphadenopathies with a consistent risk of airways' compression and esthetical prejudice. Extra nodal localizations are also described.

Aim: To report two pediatric cases of RDD.

[A novel mutation in PEX 26 gene in Zellweger syndrome: a case report].

Background: Zellweger syndrome is the most severe phenotype of the peroxisome biogenesis disorders caused by mutations in PEX genes. PEX 1, 6 and 26 genes are most frequently implicated. Clinical phenotype can't predict the mutated gene.

[Pulmonary aspergillosis in a child with chronic granulomatous disease].

The chronic granulomatous disease is characterised by the occurence of multiple bacterial and fungal infections since the early childhood. This susceptibility to infections must be prevented by a primary prophlylaxis against the opportunistic germs like pneumocystis and aspergillus. Our case is about a twelve-year-old boy who had a prophylaxis since his fourth month of life.

[Visceral leishmaniasis in children: prognostic factors].

The morbidity and death rate of visceral leishmaniasis (VL) is important. The aim of our study is to find prognosis factors of VL. Two hundred and thirty two children with VL were retrospectively studied.

[Immunological study in sickle cell disease patients: importance of the complement system].

Ten Tunisian patients, with homozygote sickle cell disease and asplenia were studied to investigate and to determine possible immunological function defects. Obtained results directed us to an abnormality of the alternate complement pathway activation which is expressed by a decreased hémolytic activity, while the classic pathway is normal. Quantification of C3, C4, C5, C6, C7 and factor B by immunochemical assay were normal, whereas factor B functional activity was depressed to a mean level of about half of normal in eight patients, IgG was increased in one subject and IgA in two others.

[Bronchopulmonary aspergillosis: study of 17 cases].

Aspergillosis is a fungic infection depending on the local or general physiologic and immunologic state of the host. We report the result of retrospective five year study (1995-1999) about 17 cases in the laboratory of Parasitology-Mycology of Rabta hospital in Tunis. Six aspergillomas were observed, they occurred after a pulmonary tuberculosis, two cases of allergic broncho-pulmonary aspergillosis described in two asthmatic patients, nine cases of invasive pulmonary aspergillosis complicating two cancers, one leukaemia, six chronic granulomatous disease.