Park Julien H, Marquardt Thorsten
Department of General Pediatrics, Metabolic Diseases, University Children's Hospital Münster, Münster, Germany.
Front Genet. 2021 Sep 10;12:735348. doi: 10.3389/fgene.2021.735348. eCollection 2021.
Despite advances in the identification and diagnosis of congenital disorders of glycosylation (CDG), treatment options remain limited and are often constrained to symptomatic management of disease manifestations. However, recent years have seen significant advances in treatment and novel therapies aimed both at the causative defect and secondary disease manifestations have been transferred from bench to bedside. In this review, we aim to give a detailed overview of the available therapies and rising concepts to treat these ultra-rare diseases.
尽管在先天性糖基化障碍(CDG)的识别和诊断方面取得了进展,但治疗选择仍然有限,且往往局限于对疾病表现的对症治疗。然而,近年来在治疗方面取得了重大进展,针对病因缺陷和继发性疾病表现的新型疗法已从实验室走向临床。在本综述中,我们旨在详细概述用于治疗这些超罕见疾病的现有疗法和新兴理念。