Myosin heavy chain-9-related disorders (MYH9-RD): a case report

Myosin heavy chain-9-related disorders (MYH9-RDs) are a group of autosomal-dominant disorders caused by mutations in the MYH9 gene. The features include congenital macrothrombocytopaenia, inclusion bodies in neutrophils and a variable risk of developing sensorineural deafness, progressive renal impa...

Descripción completa

Detalles Bibliográficos
Autores principales: Vassallo, Diana, Erekosima, Ibi, Kanigicherla, Durga, O'Riordan, Edmond, Uthappa, Puchimada, Chrysochou, Constantina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2013
Materias:
Clinical Cases
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4438408/
https://www.ncbi.nlm.nih.gov/pubmed/26015866
http://dx.doi.org/10.1093/ckj/sft094
Descripción
Sumario:Myosin heavy chain-9-related disorders (MYH9-RDs) are a group of autosomal-dominant disorders caused by mutations in the MYH9 gene. The features include congenital macrothrombocytopaenia, inclusion bodies in neutrophils and a variable risk of developing sensorineural deafness, progressive renal impairment and presenile cataracts. A 44-year-old Caucasian man was initially thought to have Alport's syndrome and thrombocytopaenia secondary to idiopathic thrombocytopaenic purpura (ITP). A detailed family history and genetic analysis revealed a diagnosis of MYH9-RD. This case highlights the implications of a delayed diagnosis and the ongoing challenges encountered during management of individuals with this condition.

Ejemplares similares