Preliminary national report on cystic fibrosis epidemiology in Tunisia: the actual state of affairs.

Aim: To establish a preliminary national report on clinical and genetic features of cystic fibrosis (CF) in Tunisian children as a first measure for a better health care organization.

Methods: All children with CF diagnosed by positive sweat tests between 1996 and 2015 in children's departments of Tunisian university hospitals were included. Data was recorded at diagnosis and during the follow-up from patients' medical records.

Phenotypic variability in Tunisian PFIC3 patients harboring a complex genotype with a differential clinical outcome of UDCA treatment.

Introduction: Progressive familial intrahepatic cholestasis type 3 (PFIC3) is a chronic autosomal recessive disorder characterized by a wide spectrum of clinical severity generally related to the degree of pathogenicity of the causal sequence variation in ABCB4 gene.

Patients And Methods: The present study reports the molecular investigation by Next Generation Sequencing (NGS) of five related patients with PFIC3 disease followed by bioinformatic analysis. A biochemical follow-up is also performed to assess the response of the ursodeoxycholic acid treatment.

Poikiloderma with neutropenia in a Tunisian patient with a novel C16orf57 gene mutation.

Poikiloderma with neutropenia (PN) is a genodermatosis characterized by poikiloderma, permanent neutropenia, recurrent infections, nail abnormalities, and palmoplantar hyperkeratosis. We report the case of a Tunisian patient with PN. Skin lesions started from the face and spread to the extremities and trunk.

Thyroid-related autoantibodies in Tunisian patients with type 1 diabetes.

Aim: To evaluate, retrospectively, the frequency of antithyroid antibodies (ATA) in patients with type 1 diabetes (T1D).

Materials And Methods: Antithyroperoxidase antibodies (TPO-Ab), antithyroglobulin antibodies (TG-Ab), and antithyroid-stimulating hormone receptor antibodies (TSHR-Ab) were determined by enzyme-linked immunosorbent assay. Sera of 312 patients (166 children and 146 adults) with T1D were analyzed.

[Lupus nephritis in childhood: clinical and evolutive study of 14 cases].

Background: Renal involvement is one of the most severe and frequent manifestations of the systemic lupus erythematosus (SLE). Aim : In this study, we analyzed clinical and evolutive particularities of 14 paediatric cases of lupus nephritis (LN).

Methods: It's a retrospective study in 14 children with lupus nephritis followed-up in the paediatrics department of Sousse and Mahdia between 1983 and 2004.