风湿病学家对戈谢病和法布里病应了解多少？连接点概述。

IF 2 4区医学 Q3 RHEUMATOLOGY

Advances in Rheumatology Pub Date : 2024-03-22 DOI:10.1186/s42358-024-00362-2

Rafael Alves Cordeiro, Nilton Salles Rosa Neto, Henrique Ayres Mayrink Giardini

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引用次数: 0

摘要

戈谢病和法布里病是一种溶酶体贮积症，酶活性不足会导致鞘磷脂病理性积聚。这些疾病具有广泛的表型表现。患者经常会出现肌肉骨骼症状和疼痛。因此，这些患者可以与风湿免疫科医生取得联系，从而有助于正确诊断、尽早给予适当治疗和改善预后。本综述介绍了风湿病学家应该了解的有关戈谢病和法布里病的重要概念，以改善患者的生活质量并改变这些疾病的自然病史。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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What should rheumatologists know about Gaucher disease and Fabry disease? Connecting the dots for an overview.

Gaucher and Fabry diseases are lysosomal storage disorders in which deficient enzyme activity leads to pathological accumulation of sphingolipids. These diseases have a broad phenotypic presentation. Musculoskeletal symptoms and pain complaints are frequently reported by patients. Thus, rheumatologists can be contacted by these patients, contributing to the correct diagnosis, earlier indication of appropriate treatment and improvement of their prognosis. This review describes important concepts about Gaucher and Fabry diseases that rheumatologists should understand to improve patients' quality of life and change the natural history of these diseases.

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来源期刊

Advances in Rheumatology Medicine-Rheumatology

CiteScore

4.00

自引率

4.30%

发文量

审稿时长

53 weeks

期刊介绍： Formerly named Revista Brasileira de Reumatologia, the journal is celebrating its 60th year of publication. Advances in Rheumatology is an international, open access journal publishing pre-clinical, translational and clinical studies on all aspects of paediatric and adult rheumatic diseases, including degenerative, inflammatory and autoimmune conditions. The journal is the official publication of the Brazilian Society of Rheumatology and welcomes original research (including systematic reviews and meta-analyses), literature reviews, guidelines and letters arising from published material.