Case Report: First Two Identified Cases of Fabry Disease in Central Asia.

Autor: Cainelli F; Raffles Medical Group Clinic, Phnom Penh, Cambodia.; Faculty of Medicine, University of Puthisastra, Phnom Penh, Cambodia., Argandykov D; Private Practitioner, Nur-Sultan, Kazakhstan., Kaldarbekov D; School of Medicine, Nazarbayev University, Nur-Sultan, Kazakhstan., Mukarov M; Department of Cardiology, National Research Cardiac Surgery Center, Nur-Sultan, Kazakhstan., Tran Thi Phuong L; French Referral Center for Fabry disease, Garches, France., Germain DP; Faculty of Medicine, University of Puthisastra, Phnom Penh, Cambodia.; French Referral Center for Fabry disease, Garches, France.; Division of Medical Genetics, University of Versailles, Paris-Saclay University, Montigny, France.
Jazyk: angličtina
Zdroj: Frontiers in genetics [Front Genet] 2021 Apr 27; Vol. 12, pp. 657824. Date of Electronic Publication: 2021 Apr 27 (Print Publication: 2021).
DOI: 10.3389/fgene.2021.657824
Abstrakt: Background: Fabry disease (FD, OMIM #301500) is a rare, progressive, X-linked inherited, genetic disease due to the functional deficiency of lysosomal α-galactosidase (α-GAL) that leads to the accumulation of glycosphingolipids (mainly globotriaosylceramide or Gb 3 ) and its derivative globotriaosylsphingosine or lyso-Gb 3 . Classic FD is a multisystem disorder which initially presents in childhood with neuropathic pain and dermatological, gastrointestinal, ocular, and cochleo-vestibular manifestations. Over time, end-organ damage such as renal failure, cardiac arrhythmia and early stroke may develop leading to reduced life expectancy in the absence of specific treatment. Case presentation: We describe two Kazakh patients who presented in adulthood with a delayed diagnosis. We conducted also a family screening through cascade genotyping. Conclusion: This is the first description of cases of Fabry disease in Central Asia. An extensive family pedigree enabled the identification of ten additional family members. Patients with rare genetic diseases often experience substantial delays in diagnosis due to their rarity and non-specific symptoms, which can negatively impact their management and delay treatment. FD may be difficult to diagnose because of the non-specificity of its early and later-onset symptoms and its X-linked inheritance. Raising awareness of clinicians is important for earlier diagnosis and optimal outcome of specific therapies.
Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
(Copyright © 2021 Cainelli, Argandykov, Kaldarbekov, Mukarov, Tran Thi Phuong and Germain.)
Databáze: MEDLINE
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