Lysosomal storage diseases in the era of COVID-19: a report of an Egyptian case of alpha-fucosidosis and a summary of the lysosomal storage diseases-COVID-19 relationship.
Alpha-fucosidosis
Angiokeratoma
COVID-19
Lysosomal storage diseases
Respiratory infection
Journal
The Egyptian journal of medical human genetics
ISSN: 2090-2441
Titre abrégé: Egypt J Med Hum Genet
Pays: Egypt
ID NLM: 101151137
Informations de publication
Date de publication:
2022
2022
Historique:
received:
18
02
2022
accepted:
08
09
2022
medline:
1
1
2022
pubmed:
1
1
2022
entrez:
31
7
2023
Statut:
ppublish
Résumé
We present a case of alpha-fucosidosis, a lysosomal storage disorder, from Egypt. The report also includes a brief review of the COVID-19 and lysosomal storage diseases relationship. A female patient aged 18 years, diagnosed with type II fucosidosis, based on the cutaneous signs, characteristic facies, and systemic symptoms, and diagnosis was confirmed using genetic analysis. The patient died from COVID-19 pneumonia during the COVID-19 pandemic after getting the infection from her father and being hospitalized. Patients with lysosomal storage diseases with local or systemic immune suppression may be predisposed to respiratory complications of COVID-19. Intense care with protective guidelines should be applied to those patients.
Sections du résumé
Background
UNASSIGNED
We present a case of alpha-fucosidosis, a lysosomal storage disorder, from Egypt. The report also includes a brief review of the COVID-19 and lysosomal storage diseases relationship.
Case presentation
UNASSIGNED
A female patient aged 18 years, diagnosed with type II fucosidosis, based on the cutaneous signs, characteristic facies, and systemic symptoms, and diagnosis was confirmed using genetic analysis. The patient died from COVID-19 pneumonia during the COVID-19 pandemic after getting the infection from her father and being hospitalized.
Conclusions
UNASSIGNED
Patients with lysosomal storage diseases with local or systemic immune suppression may be predisposed to respiratory complications of COVID-19. Intense care with protective guidelines should be applied to those patients.
Identifiants
pubmed: 37521839
doi: 10.1186/s43042-022-00350-5
pii: 350
pmc: PMC9483389
doi:
Types de publication
Case Reports
Langues
eng
Pagination
138Informations de copyright
© The Author(s) 2022.
Déclaration de conflit d'intérêts
Competing interestsThe authors declare no conflict of interest.
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