I 型黏多糖贮积症患者护理的新建议。

New recommendations for the care of patients with mucopolysaccharidosis type I.

机构信息

Servicio de Errores Congénitos del Metabolismo, Hospital "Prof. Dr. Juan P. Garrahan".

Servicio de Neurología Infantil, Clínica de Mucopolisacaridosis, Hospital Universitario Austral, Pilar, Buenos Aires.

出版信息

Arch Argent Pediatr. 2021 Apr;119(2):e121-e128. doi: 10.5546/aap.2021.eng.e121.

DOI:10.5546/aap.2021.eng.e121

PMID:33749201

Abstract

Considering the advances made on mucopolysaccharidosis type I after the consensus study published by a group of experts in Argentina in 2008, recommendations about genetic testing, cardiological follow-up, airway care, hearing impairment detection, spinal and neurological conditions, as well as current treatments, were reviewed. Emphasis was placed on the need for early diagnosis and treatment, as well as an interdisciplinary follow-up.

摘要

考虑到 2008 年阿根廷专家组发表共识研究后，黏多糖贮积症 I 型取得的进展，对基因检测、心脏随访、气道护理、听力损伤检测、脊柱和神经状况以及现有治疗方法的建议进行了回顾。重点强调了早期诊断和治疗以及多学科随访的必要性。