Earticle

초록

영어

Fabry disease is an X-linked recessive disorder of glycosphingolipid metabolism resulting from the deficient activity of the lysosomal enzyme, α-galactosidase A. It leads to the systemic accumulation of glycosphingolipids including globotriaosylceramide (GL3) in the plasma and tissue lysosomes. Classically affected hemizygous males, with no residual α-galactosidase Aactivity may display all the characteristic sign, including neurological (pain), cutaneous (angiokeratoma), renal (proteinuria, kidney failure), cardiovascular (cardiomyopathy, arrhythmia), cochleo-vestibular and cerebrovascular (transient ischemic attacks, strokes) features of the disease. While, heterozygous females have symptoms ranging from very mild to severe. Thus, it is not easy to diagnose Fabry disease in female patients, because of the variable clinical features. This case is a patient who was considered to have an ordinary fibromyalgia but was found to have a Fabry disease by detailed history taking and examination. We herein report a case of chronic somatic pain due to Fabry disease without other systematic manifestations.

목차

Abstract
증례보고
고찰
가. 투여대상
나. 평가방법
참고문헌

키워드

저자

• Min Hye Chang [ 장민혜 | Department of Anesthesiology and Pain Medicine, Seoul National University Bundang Hospital, Seongnam, Korea. ]
• Hyun Hee Choi [ 조현희 | Department of Anesthesiology and Pain Medicine, Seoul National University Bundang Hospital, Seongnam, Korea. ]
• Eun Joo Choi [ 최은주 | Department of Anesthesiology and Pain Medicine, Seoul National University Bundang Hospital, Seongnam, Korea./Department of Anesthesiology and Pain Medicine, Seoul National University Bundang Hospital, Seongnam, Korea, Department of Anesthesiology and Pain Medicine, Seoul National University College of Medicine, Seoul, Republic of Korea. ]
• Pyung-Bok Lee [ 이평복 | Department of Anesthesiology and Pain Medicine, Seoul National University Bundang Hospital, Seongnam, Korea./Department of Anesthesiology and Pain Medicine, Seoul National University Bundang Hospital, Seongnam, Korea, Department of Anesthesiology and Pain Medicine, Seoul National University College of Medicine, Seoul, Republic of Korea. ] Corresponding Author

참고문헌

발행기관

간행물

표지보기 관심저널 등록

• 간행물명

  Pain Bulletin

• 간기

  반년간

• pISSN

  2951-3782

• eISSN

  3140-3689

• 수록기간

  2022~2026

• 십진분류

  KDC 514 DDC 617