Grossesse et maladie de Gaucher

Autor: M. Noun, N. Samouh, A. Quessar, Saïd Hermas, S Mahdoui, Z Jeddaoui, H. Boufettal
Rok vydání: 2014
Předmět:
Zdroj: Journal de Gynécologie Obstétrique et Biologie de la Reproduction. 43:397-400
ISSN: 0368-2315
DOI: 10.1016/j.jgyn.2012.11.013
Popis: Gaucher disease is a lysosomal storage disorder due to deficiency of glucocerebrosidase. The association with pregnancy exposes the worsening of the disease and complications of pregnancy and puerperium. We report a case of pregnancy in a woman of 35 years, suffering from Gaucher disease type 1. Pregnancy had a favorable outcome. Complications occurred. They were kept under control. The outcome was favorable. The authors discuss the evolution of the disease during pregnancy and management of complications. They can occur during pregnancy, post-partum and breastfeeding. Support begins with preconception consultation. It involves finding and correcting the biological problems and deficiencies, and management of complications. Genetic counseling is important, it helps prevent inbreeding.
Databáze: OpenAIRE