Atypical haemolytic uraemic syndrome: a case of rare genetic mutation.
genetics
haematology (incl blood transfusion)
immunology
paediatrics
renal medicine
Journal
BMJ case reports
ISSN: 1757-790X
Titre abrégé: BMJ Case Rep
Pays: England
ID NLM: 101526291
Informations de publication
Date de publication:
30 Jul 2021
30 Jul 2021
Historique:
entrez:
31
7
2021
pubmed:
1
8
2021
medline:
4
8
2021
Statut:
epublish
Résumé
Complement-mediated kidney disease has been an evolving area in the field of nephrology. Atypical haemolytic uraemic syndrome (aHUS) is a rare thrombotic microangiopathy that affects multiple organs, particularly kidneys. The disease is characterised by a triad of haemolytic anaemia, thrombocytopenia and acute kidney injury (AKI). aHUS is most commonly caused by dysregulation of alternative complement pathway. In contrast to shiga toxin-associated haemolytic uraemic syndrome, diarrheal prodrome is usually absent in children with aHUS. We report a 2-year, 9-month-old boy who presented with acute dysentery and AKI. He had an unusual prolonged course of illness with hypocomplementaemia; hence, genetic testing was performed. He had a storming course in the hospital and succumbed to complications of the disease. Genetic study revealed digenic mutation in
Identifiants
pubmed: 34330731
pii: 14/7/e244190
doi: 10.1136/bcr-2021-244190
pmc: PMC8327850
pii:
doi:
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© BMJ Publishing Group Limited 2021. No commercial re-use. See rights and permissions. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: None declared.
Références
Pediatr Nephrol. 2012 Dec;27(12):2327-31
pubmed: 22903728
Indian Pediatr. 2020 Aug 15;57(8):744-747
pubmed: 32844761
Kidney Int. 2018 Aug;94(2):408-418
pubmed: 29907460
Ther Apher Dial. 2019 Feb;23(1):4-21
pubmed: 30294946
Hematology Am Soc Hematol Educ Program. 2016 Dec 2;2016(1):217-225
pubmed: 27913483
Curr Opin Pediatr. 2013 Apr;25(2):209-15
pubmed: 23399570
Hematology Am Soc Hematol Educ Program. 2012;2012:617-25
pubmed: 23233643
J Atheroscler Thromb. 2019 Feb 1;26(2):99-110
pubmed: 30393246
Pediatr Nephrol. 2019 Aug;34(8):1465-1482
pubmed: 30989342
Korean J Intern Med. 2020 Jan;35(1):25-40
pubmed: 31935318
Pediatr Nephrol. 2016 Jan;31(1):15-39
pubmed: 25859752
Kidney Int. 2021 Jul;100(1):225-237
pubmed: 33307104
Kidney Int. 2016 Mar;89(3):701-11
pubmed: 26880462
Clin Adv Hematol Oncol. 2016 Nov;14 Suppl 11(11):2-15
pubmed: 27930620
Int J Nephrol. 2011;2011:908407
pubmed: 21876803
Clin Epidemiol. 2020 Mar 12;12:295-305
pubmed: 32210633
Clin J Am Soc Nephrol. 2007 May;2(3):591-6
pubmed: 17699467