Transition from pediatric to adult medicine for patients with inherited metabolic diseases: Recommendations of the G2m network (Groupement des Maladies héréditaires du Métabolisme)
Belmatoug, Nadia
Transition from pediatric to adult medicine for patients with inherited metabolic diseases: Recommendations of the G2m network (Groupement des Maladies héréditaires du Métabolisme) - 2022.
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Inherited metabolic diseases (IMDs) are a group of more than 1,400 rare genetic diseases resulting from a genetic deficiency of a metabolic enzyme or transporter. They most often begin in childhood. If left untreated, most of them result in significant morbidity and mortality. Thanks to advances in treatment, 90 percent of affected children survive into adulthood. Within IMDs, certain diet- or energy-related diseases require very specific dietary treatment and emergency treatment due to the risk of acute decompensation during fevers or other stresses. It is therefore essential that children and adolescents, accompanied by their families, follow an appropriate transition program. In 2017, the G2m network published the first recommendations on transition, particularly for diet-dependent diseases. A transition booklet for young patients was developed based on this publication. Since 2019, a working group including several patient organizations has organized themed days and meetings on transition and created a child-adult transition passport booklet. Lysosomal diseases have been the subject of recommendations based on a survey of patients, families, and doctors with the aim of creating a specific transition program called TENALYS (Transition ENfant Adulte dans les maladies LYSosomales). The members of the G2m network are involved in the development of other transition programs: transition in Pompe disease as well as transversal transition programs for rare diseases (La Suite at the Necker hospital and JUMP at the Pitié-Salpêtrière hospital).
Transition from pediatric to adult medicine for patients with inherited metabolic diseases: Recommendations of the G2m network (Groupement des Maladies héréditaires du Métabolisme) - 2022.
26
Inherited metabolic diseases (IMDs) are a group of more than 1,400 rare genetic diseases resulting from a genetic deficiency of a metabolic enzyme or transporter. They most often begin in childhood. If left untreated, most of them result in significant morbidity and mortality. Thanks to advances in treatment, 90 percent of affected children survive into adulthood. Within IMDs, certain diet- or energy-related diseases require very specific dietary treatment and emergency treatment due to the risk of acute decompensation during fevers or other stresses. It is therefore essential that children and adolescents, accompanied by their families, follow an appropriate transition program. In 2017, the G2m network published the first recommendations on transition, particularly for diet-dependent diseases. A transition booklet for young patients was developed based on this publication. Since 2019, a working group including several patient organizations has organized themed days and meetings on transition and created a child-adult transition passport booklet. Lysosomal diseases have been the subject of recommendations based on a survey of patients, families, and doctors with the aim of creating a specific transition program called TENALYS (Transition ENfant Adulte dans les maladies LYSosomales). The members of the G2m network are involved in the development of other transition programs: transition in Pompe disease as well as transversal transition programs for rare diseases (La Suite at the Necker hospital and JUMP at the Pitié-Salpêtrière hospital).
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