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作者

陈梦珂 韩玲玲 周 谦 石晓梦 邵乐平

作者单位

山东第一医科大学(山东省医学科学院)研究生部，山东 济南 青岛大学医学部，山东 青岛 青岛大学附属青岛市市立医院肾内科，山东 青岛

刊名

Advances in Clinical Medicine

年份

2023

卷号

Vol.13 No.5

页码

7821-7828

ISSN

2161-8712

关键词

Fabry病 致病机制 临床表现 诊断 治疗 Fabry Disease Pathogenic Mechanisms Clinical Manifestations Diagnosis Treatment

摘要

Fabry disease is an X-linked recessive monogenic disease, secondary to GLA gene mutation, which leads to partial or complete disappearance of α-galactosidase A activity, causing its metabolic substrate acyl sphingosine trihexoside to be unable to be degraded in time and accumulated in lysosomes of different types of cells in various organs, which may lead to different clinical situations. Symptoms of FD occur in childhood and include paresthesia, cold and heat intol-erance, and gastrointestin...更多

Fabry disease is an X-linked recessive monogenic disease, secondary to GLA gene mutation, which leads to partial or complete disappearance of α-galactosidase A activity, causing its metabolic substrate acyl sphingosine trihexoside to be unable to be degraded in time and accumulated in lysosomes of different types of cells in various organs, which may lead to different clinical situations. Symptoms of FD occur in childhood and include paresthesia, cold and heat intol-erance, and gastrointestinal symptoms such as nausea, vomiting, abdominal pain, and neuropathic pain. Subsequently, symptoms associated with progressive organ damage developed, such as angi-okeratoma, opacity of the cornea, left ventricular hypertrophy, myocardial fibrosis, proteinuria, and renal insufficiency. Renal insufficiency is the leading cause of death in FD. In addition to the family history, the gold standard of diagnosis is genetic analysis looking for mutations. Genetic counseling should be provided to the patient and his family upon diagnosis. The current treatment is mainly to avoid or eliminate the deposition of Gb3 by enzyme replacement therapy. Once diagnosed, treat-ment should be started immediately, which may change the prognosis of the disease. This article will describe the current epidemiological situation, pathogenic mechanism, clinical manifestations, diagnostic criteria, and treatment of FD.收起

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