Greater disease burden of variegate porphyria than hereditary coproporphyria: An Israeli nationwide study of neurocutaneous porphyrias.
Clinical
HCP
HCP, hereditary coproporphyria
NCP, neurocutaneous porphyrias
Neurocutaneous
Porphyria
Systemic
VP
VP, variegate porphyria
Journal
Molecular genetics and metabolism reports
ISSN: 2214-4269
Titre abrégé: Mol Genet Metab Rep
Pays: United States
ID NLM: 101624422
Informations de publication
Date de publication:
Mar 2021
Mar 2021
Historique:
received:
30
12
2020
accepted:
31
12
2020
entrez:
25
1
2021
pubmed:
26
1
2021
medline:
26
1
2021
Statut:
epublish
Résumé
Hereditary coproporphyria (HCP) and variegate porphyria (VP) are referred to as neurocutaneous porphyrias (NCP). Data concerning their systemic presentation are limited and no direct attempt of comparison of the two has ever been made. Our aim was to describe the type and frequency of systemic manifestations of NCPs in Israeli patients. A cross-sectional survey was conducted. The study population included all patients with NCP diagnosed at the Israeli National Service for Biochemical Diagnoses of Porphyrias (INSP) between 1988 and 2019. Of the 83 patients with NCP who were alive in 2019, 61 (73%) completed the survey, 40 with VP and 21 with HCP. Systemic symptoms were reported by 63% of the VP group and 62% of the HCP group (
Identifiants
pubmed: 33489763
doi: 10.1016/j.ymgmr.2021.100707
pii: S2214-4269(21)00001-X
pmc: PMC7811049
doi:
Types de publication
Journal Article
Langues
eng
Pagination
100707Informations de copyright
© 2021 The Authors. Published by Elsevier Inc.
Déclaration de conflit d'intérêts
The authors declare they have no conflict of interest.
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