Fatal acute haemolysis and methaemoglobinaemia in a man with renal failure and Alkaptonuria - Is nitisinone the solution?
AKI, acute kidney injury
AKU, alkaptonuria
Alkaptonuria
CKD, chronic kidney disease
G6PD, glucose-6-phosphate dehydrogenase
HGA, homogentisic acid
Haemolysis
MetHb, methaemoglobin
Methaemoglobinaemia
Nitisinone
Oxidative stress
Renal failure
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:
Jun 2020
Jun 2020
Historique:
received:
26
02
2020
revised:
08
04
2020
accepted:
08
04
2020
entrez:
24
4
2020
pubmed:
24
4
2020
medline:
24
4
2020
Statut:
epublish
Résumé
Haemolysis and methaemoglobinaemia (MetHb) are rare metabolic complications that can occur in Alkaptonuria (AKU), for which there is no curative treatment. Presented is a case of a man who had AKU, and serves as a reminder of life-threatening complications that can occur with haemolysis and MetHb. This case presents an opportunity to revisit important considerations relating to the investigation and treatment of haemolysis and MetHb with a view to raising awareness, and in doing so hopefully reducing the uniformly fatal outcome. Additionally it is proposed that treatment of haemolysis and MetHb with nitisinone is considered as a potentially lifesaving treatment as it is believed that reducing the concentration of circulating homogentisic acid will reduce oxidative stress.
Identifiants
pubmed: 32322505
doi: 10.1016/j.ymgmr.2020.100588
pii: S2214-4269(20)30034-3
pii: 100588
pmc: PMC7171525
doi:
Types de publication
Case Reports
Langues
eng
Pagination
100588Subventions
Organisme : Department of Health
ID : HCS DRF-2014-05-009
Pays : United Kingdom
Informations de copyright
© 2020 The Authors.
Déclaration de conflit d'intérêts
Davison AS, Luangrath E, Selvi E, Ranganath LR have no conflict of interest.
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