Clinical heterogeneity in Fabry disease: A clinical case-Reference-Cited by-同舟云学术

Clinical heterogeneity in Fabry disease: A clinical case

Published:2023-08-29 Issue:4 Volume:20 Page:68-70
ISSN:1812-2892
Container-title:Journal of Clinical Medicine of Kazakhstan
language:
Short-container-title:J CLIN MED KAZ

Author:

Issabekova Assel¹^ORCID,Mashkunova Olga²^ORCID

Affiliation:

1. Cardiology Department, Scientific Institution of Cardiology and Internal Diseases, Almaty, Kazakhstan

2. Therapeutic Department, National Medical University, Almaty, Kazakhstan

Abstract

Fabry disease is an orphan lysosomal storage disease characterized by progressive organ damage. Considering that the disease is rare, the low awareness of doctors about this pathology leads to late diagnosis of the disease and untimely pathogenetic therapy.<b> </b>Clinical case of late (relative to clinical manifestation) diagnosis of the “classical” phenotype of Fabry Disease in a male patient with cardiac and renal damage and typical early presentations such as neuropathic pain, angiokeratomas, hypohidrosis.

Publisher

JSC National Scientific Medical Research Center

Subject

General Medicine

Link

https://www.clinmedkaz.org/download/clinical-heterogeneity-in-fabry-disease-a-clinical-case-13486.pdf

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