Gaucher disease

ISBN-13: 9786208814595 / Angielski / Miękka / 2025 / 88 str.

Faten Frikha; Mariem Fendri; Zouhir Bahloul

Opis

Gaucher disease (GD) is a rare genetic disorder of autosomal recessive inheritance. It is a disease of lysosomal overload linked to an inborn deficit of beta-glucocerebrosidase activity. Through a monocentric series of 9 cases of MG in the Sfax-TUNISIA Department of Internal Medicine and a review of the literature, we recall the epidemiological, clinical, therapeutic and evolutionary characteristics of MG type1 (MG1), which represents the most frequent and least severe form of this pathology. We enrolled 9 patients during the period 1996-2024, with a mean age of 28.3 years (extremes 17-51 years). MG was diagnosed in childhood in 2 cases (at the age of 4 and 9) and at a late age of over 40 in two other cases (at the age of 45 and 46). The patients' parents were first cousins in 5 cases, and systematic screening revealed MG in siblings in only one case. MG was discovered during pregnancy in 1 case. Questioning of patients revealed asthenia in 5 cases and bone pain in 3.