指南
酶替代疗法
医学
酸性鞘磷脂酶
疾病
梅德林
临床实习
重症监护医学
家庭医学
鞘磷脂
病理
内科学
化学
生物化学
胆固醇
作者
Tarekegn Geberhiwot,Melissa P. Wasserstein,Subadra Wanninayake,Shaun Bolton,Andrea Dardis,Anna Lehman,Olivier Lidove,Charlotte Dawson,Roberto Giugliani,Jackie Imrie,Justin Hopkin,James Green,Daniel de Vicente Corbeira,Shyam Madathil,Eugen Mengel,Fatih Süheyl Ezgü,Magali Pettazzoni,Barbara Sjouke,Carla E. M. Hollak,Marie T. Vanier,Margaret M. McGovern,Edward H. Schuchman
标识
DOI:10.1186/s13023-023-02686-6
摘要
Acid Sphingomyelinase Deficiency (ASMD) is a rare autosomal recessive disorder caused by mutations in the SMPD1 gene. This rarity contributes to misdiagnosis, delayed diagnosis and barriers to good care. There are no published national or international consensus guidelines for the diagnosis and management of patients with ASMD. For these reasons, we have developed clinical guidelines that defines standard of care for ASMD patients.The information contained in these guidelines was obtained through a systematic literature review and the experiences of the authors in their care of patients with ASMD. We adopted the Appraisal of Guidelines for Research and Evaluation (AGREE II) system as method of choice for the guideline development process.The clinical spectrum of ASMD, although a continuum, varies substantially with subtypes ranging from a fatal infantile neurovisceral disorder to an adult-onset chronic visceral disease. We produced 39 conclusive statements and scored them according to level of evidence, strengths of recommendations and expert opinions. In addition, these guidelines have identified knowledge gaps that must be filled by future research.These guidelines can inform care providers, care funders, patients and their carers about best clinical practice and leads to a step change in the quality of care for patients with ASMD with or without enzyme replacement therapy (ERT).
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