[A rare cause of AA amyloidosis: Hereditary epidermolysis bullosa].
Une cause rare de l’amylose AA : les épidermolyses bulleuses héréditaires.
AA amyloidosis
Amylose AA
Nephrotic syndrome
Recessive dystrophic epidermolysis bullosa
Syndrome néphrotique
Épidermolyse bulleuse dystrophique récessive
Journal
Nephrologie & therapeutique
ISSN: 1872-9177
Titre abrégé: Nephrol Ther
Pays: France
ID NLM: 101248950
Informations de publication
Date de publication:
Apr 2022
Apr 2022
Historique:
received:
18
01
2021
revised:
27
07
2021
accepted:
17
08
2021
pubmed:
29
11
2021
medline:
6
5
2022
entrez:
28
11
2021
Statut:
ppublish
Résumé
Recessive dystrophic epidermolysis bullosa is a rare genetic condition characterized by fragile skin and mucous membrane, caused by mutations in the COL7A1 gene. AA amyloidosis is a rare complication of these genodermatosis. Two patients with recessive dystrophic epidermolysis bullosa, generalized severe in the first case and generalized intermediate in the second case, developed at the age of 38 and 28, respectively, nephrotic syndrome. The diagnosis of secondary renal amyloidosis was confirmed by renal biopsy in the first case and by minor salivary gland biopsy in the second case. Death occurred 2 months after diagnosis in both cases. Renal involvement is quite common in AA amyloidosis in patients with recessive dystrophic epidermolysis bullosa. Nephrotic syndrome and rapid decline in renal function renal are characteristic features. The prognosis is poor due to underlying conditions and the lack of an etiological treatment.
Identifiants
pubmed: 34838485
pii: S1769-7255(21)00531-9
doi: 10.1016/j.nephro.2021.08.005
pii:
doi:
Substances chimiques
COL7A1 protein, human
0
Collagen Type VII
0
Serum Amyloid A Protein
0
Types de publication
Journal Article
Langues
fre
Sous-ensembles de citation
IM
Pagination
136-139Informations de copyright
Copyright © 2021 Société francophone de néphrologie, dialyse et transplantation. Published by Elsevier Masson SAS. All rights reserved.