Clouds over IMD? Perspectives for inherited metabolic diseases in adults from a retrospective cohort study in two Swiss adult metabolic clinics.

ABSTRACT:

Background

Inherited metabolic diseases (IMD) are complex medical conditions. Thanks to improvements in diagnosis and treatment, a growing number of pediatric IMD patients reach adulthood. Thus, clinical care of adults with IMD has emerged as a new and challenging reality. This purpose of this study of adults with IMD in an adult metabolic clinic at two academic hospitals (Lausanne and Geneva) was to help inform decisions on the future organization of health care for this group of patients.

Methods

All adult patients with a biochemical and/or genetic diagnosis of IMD followed at the clinics were included in the study. Electronic patient records were reviewed for clinical features, diagnostic studies, treatment and long-term outcome. Data of undiagnosed patients referred for

SUBMITTER: Gariani K 

PROVIDER: S-EPMC7433045 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature