Hermansky-Pudlak Syndrome Type 6 and Renal Failure: A Rare Genetic Disease.
end-stage renal disease (esrd)
hermansky-pudlak syndrome
inherited bleeding diathesis
oculocutaneous albinism
renal failure
Journal
Cureus
ISSN: 2168-8184
Titre abrégé: Cureus
Pays: United States
ID NLM: 101596737
Informations de publication
Date de publication:
Oct 2023
Oct 2023
Historique:
accepted:
29
10
2023
medline:
1
11
2023
pubmed:
1
11
2023
entrez:
1
11
2023
Statut:
epublish
Résumé
Hermansky-Pudlak syndrome (HPS) is a group of 10 autosomal recessive inherited diseases. Most patients exhibit albinism with nystagmus, visual acuity loss, and a platelet storage pool deficiency with bleeding diathesis. The severity and variety of other clinical features depend on the HPS subtype. We report a 24-year-old male with end-stage renal disease (ESRD) of unknown etiology and a history of oculocutaneous albinism and bleeding diathesis. Two of his siblings also had oculocutaneous albinism. The diagnostic workup for renal impairment was unremarkable. Further genetic testing revealed a homozygous novel nonsense mutation in the
Identifiants
pubmed: 37908700
doi: 10.7759/cureus.47970
pmc: PMC10615116
doi:
Types de publication
Case Reports
Langues
eng
Pagination
e47970Informations de copyright
Copyright © 2023, Alhozali et al.
Déclaration de conflit d'intérêts
The authors have declared that no competing interests exist.
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