Background: Primary distal renal tubular acidosis (dRTA) caused by mutations in the genes that codify for the H + -ATPase pump subunits is a heterogeneous disease with a poor phenotype-genotype correlation. Up to now, large cohorts of dRTA Tunisian patients have not been analyzed, and molecular defects may differ from those described in other ethnicities. We aim to identify molecular defects present in the ATP6V1B1, ATP6V0A4 and SLC4A1 genes in a Tunisian cohort, according to the following algorithm: first, ATP6V1B1 gene analysis in dRTA patients with sensorineural hearing loss (SNHL) or unknown hearing status.
View Article and Find Full Text PDFBackground: Guillain-Barre Syndrome (GBS) is an acute polyradidulonevritis which is primitive inflammatory and demyelinisant. It represents the most frequent cause of acute peripheric paralysis of the child.
Aim: To study the epidemiologic, clinic, electromyographic, outcome and therapeutic features of this disease.