Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency.
Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency.
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DOI：
10.1038/gim.2017.7
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发表时间：
2017-09
期刊：
影响因子：
--
通讯作者：
Wasserstein MP
中科院分区：
文献类型：
--
作者：
McGovern MM;Dionisi-Vici C;Giugliani R;Hwu P;Lidove O;Lukacs Z;Eugen Mengel K;Mistry PK;Schuchman EH;Wasserstein MP
本诊断指南旨在作为教育资源，代表作者的意见，并不代表美国医学遗传学和基因组学学院（ACMG）的建议或政策。这些信息应被视为基于专家意见的共识，因为并非所有病例的文献中都有更全面的证据。酸性鞘磷脂酶缺乏症（ASMD）是一种罕见的，进行性的，往往是致命的溶酶体储存疾病。潜在的代谢缺陷是酸性鞘磷脂酶缺乏，导致鞘磷脂在靶组织中进行性蓄积。ASMD表现为一系列严重程度，从快速进展的严重神经内脏疾病（一致致命）到更缓慢进展的慢性神经内脏和慢性内脏形式。疾病管理的目的是控制症状和定期评估多系统参与。一个由ASMD的临床和实验室评估、诊断、治疗/管理和遗传方面的国际专家组成的小组召开会议，审查证据基础并分享个人经验，以制定各种ASMD表型的诊断指南。虽然ASMD患者的护理通常由代谢疾病专家提供，但该指南针对广泛的提供者，因为它对初级保健提供者（例如，儿科医生和内科医生）和专家（例如，肺科医生、肝病学家和血液学家）能够识别ASMD。Genet Med advance online publication 2017年4月13日
This diagnostic guideline is intended as an educational resource and represents the opinions of the authors, and is not representative of recommendations or policy of the American College of Medical Genetics and Genomics (ACMG). The information should be considered a consensus based on expert opinion, as more comprehensive levels of evidence were not available in the literature in all cases. Acid sphingomyelinase deficiency (ASMD) is a rare, progressive, and often fatal lysosomal storage disease. The underlying metabolic defect is deficiency of the enzyme acid sphingomyelinase that results in progressive accumulation of sphingomyelin in target tissues. ASMD manifests as a spectrum of severity ranging from rapidly progressive severe neurovisceral disease that is uniformly fatal to more slowly progressive chronic neurovisceral and chronic visceral forms. Disease management is aimed at symptom control and regular assessments for multisystem involvement. An international panel of experts in the clinical and laboratory evaluation, diagnosis, treatment/management, and genetic aspects of ASMD convened to review the evidence base and share personal experience in order to develop a guideline for diagnosis of the various ASMD phenotypes. Although care of ASMD patients is typically provided by metabolic disease specialists, the guideline is directed at a wide range of providers because it is important for primary care providers (e.g., pediatricians and internists) and specialists (e.g., pulmonologists, hepatologists, and hematologists) to be able to identify ASMD. Genet Med advance online publication 13 April 2017
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