MYH9 Associated nephropathy.
Nefropatía asociada a mutación del gen MYH9.
Alport syndrome
Anomalía de May-Hegglin
Epstein syndrome
Hearing loss
Hipoacusia
MYH9 nephropathy
May-Hegglin anomaly
Nefropatía MYH9
Sindrome de Sebastián
Síndrome de Alport
Síndrome de Epstein
Thrombocytopenia
Trombocitopenia
Journal
Nefrologia
ISSN: 2013-2514
Titre abrégé: Nefrologia (Engl Ed)
Pays: Spain
ID NLM: 101778581
Informations de publication
Date de publication:
Historique:
received:
15
02
2018
revised:
27
06
2018
accepted:
25
08
2018
pubmed:
26
11
2018
medline:
7
1
2020
entrez:
26
11
2018
Statut:
ppublish
Résumé
MYH9 related diseases are caused by mutations in the MYH9 gene and constitute a rare group of genetic entities. Its inheritance follows an autosomal dominant pattern. The MYH9 gene, encodes the nonmuscle myosin heavy chain IIA, expressed in different tissues and especially in podocytes and mesangial cells. The disorder is characterized by the presence of macrothrombocytopenia, leukocyte inclusions and a variable risk of developing renal failure, hearing loss and early-onset cataracts. We describe the case of a 27-year-old Caucasian woman, diagnosed initially with idiopathic thrombocytopenic purpura. After a detailed family history and the appearance of renal involvement and hearing loss, genetic testing allowed to make the diagnosis of nephropathy associated with MYH9 mutation. This case is an example of the delayed diagnosis of uncommon diseases and highlights the usefulness genetic testing. A review of the disease is provided.
Identifiants
pubmed: 30471777
pii: S0211-6995(18)30156-5
doi: 10.1016/j.nefro.2018.08.008
pii:
doi:
Substances chimiques
MYH9 protein, human
0
Myosin Heavy Chains
EC 3.6.4.1
Types de publication
Case Reports
Journal Article
Review
Langues
eng
spa
Sous-ensembles de citation
IM
Pagination
133-140Informations de copyright
Copyright © 2018 Sociedad Española de Nefrología. Published by Elsevier España, S.L.U. All rights reserved.