文章基本信息

标题：Nutritional, Gastrointestinal and Endo-Metabolic Challenges in the Management of Children with Spinal Muscular Atrophy Type 1
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作者：Antonio Corsello ; Lorenzo Scatigno ; Martina Chiara Pascuzzi 等
期刊名称：Nutrients
电子版ISSN：2072-6643
出版年度：2021
卷号：13
期号：7
页码：2400
DOI：10.3390/nu13072400
出版社：MDPI Publishing
摘要：The management of patients with spinal muscular atrophy type 1 (SMA1) is constantly evolving. In just a few decades, the medical approach has switched from an exclusively palliative therapy to a targeted therapy, transforming the natural history of the disease, improving survival time and quality of life and creating new challenges and goals. Many nutritional problems, gastrointestinal disorders and metabolic and endocrine alterations are commonly identified in patients affected by SMA1 during childhood and adolescence. For this reason, a proper pediatric multidisciplinary approach is then required in the clinical care of these patients, with a specific focus on the prevention of most common complications. The purpose of this narrative review is to provide the clinician with a practical and usable tool about SMA1 patients care, through a comprehensive insight into the nutritional, gastroenterological, metabolic and endocrine management of SMA1. Considering the possible horizons opened thanks to new therapeutic frontiers, a nutritional and endo-metabolic surveillance is a crucial element to be considered for a proper clinical care of these patients.
关键词：SMA; spinal muscular atrophy type 1; SMN1; nutritional management; enteral nutrition; pediatric gastroenterology; dysphagia; neurological disability; endocrine disorders; precocious pubarche SMA ; spinal muscular atrophy type 1 ; SMN1 ; nutritional management ; enteral nutrition ; pediatric gastroenterology ; dysphagia ; neurological disability ; endocrine disorders ; precocious pubarche