Might Be Fabry Disease?

Aysegul ORUC

Makale detayları

Might Be Fabry Disease?

Yazarlar:

Aysegul ORUC

Yayıncı:

Nizameddin KOCA

Ana Başlıklar:

Hastalıklar

Dergi:

Turkish Journal of Internal Medicine 2020 Vol.2 Issue 1, pp.5-10

Belge Tipi:

Makale

Yayın Tarihi:

1/2020

Belge Dili:

İngilizce

Document ID (Org No.):

2000637880

Sıklık:

Üç Aylık

eISSN:

2687-4245

Özet:

 

Fabry disease, also known as Anderson-Fabry disease, is a X-linked lysosomal storage disease. Alpha-galactosidase A (alpha-Gal A) enzyme deficiency leads globotriaosylceramide (Gb3) accumulation in several cells which causes clinical manifestations of the disease. The clinical heterogeneity and non-specific symptoms cause under-diagnosis and diagnosis delay. There are several clinical variants of FD which are associated with genetic and residual enzyme activity and listed as the classical, atypical (later-onset), renal and cardiac variants. Renal, cardiovascular and neurovascular involvement are the main causes of morbidity and mortality. Patients with acroparesthesias, episodic pain crises, proteinuria, chronic kidney disease, ventricular hypertrophy and cerebrovascular evets of unknown etiology should be screened for Fabry disease. Early initiation of enzyme replacement treatment improves the quality of life and prognosis. Therefore it is essential to have awareness and knowledge about Fabry disease. Herein we aimed to summarize Fabry disease and point out that a Fabry patient might have visited you at your outpatient clinic.

Makale detayları

Might Be Fabry Disease?

Yazarlar: Aysegul ORUC

Yayıncı: Nizameddin KOCA

Ana Başlıklar: Hastalıklar

Dergi: Turkish Journal of Internal Medicine 2020 Vol.2 Issue 1, pp.5-10

Belge Tipi: Makale

Yayın Tarihi: 1/2020

Belge Dili: İngilizce

Document ID (Org No.): 2000637880

Sıklık: Üç Aylık

eISSN: 2687-4245

Sayı

Yazarlar:

Aysegul ORUC

Yayıncı:

Nizameddin KOCA

Ana Başlıklar:

Hastalıklar

Dergi:

Turkish Journal of Internal Medicine 2020 Vol.2 Issue 1, pp.5-10

Belge Tipi:

Makale

Yayın Tarihi:

1/2020

Belge Dili:

İngilizce

Document ID (Org No.):

2000637880

Sıklık:

Üç Aylık

eISSN:

2687-4245