title: Myosin heavy chain-9-related disorders (MYH9-RD): a case report.
abstract: 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.
authors.affiliation: Salford Royal NHS Foundation Trust , Salford , UK.
authors.forename: Diana
authors.initials: D
authors.lastname: Vassallo
authors.affiliation: Salford Royal NHS Foundation Trust , Salford , UK.
authors.forename: Ibi
authors.initials: I
authors.lastname: Erekosima
authors.affiliation: Central Manchester University Hospitals NHS Foundation Trust , Manchester , UK.
authors.forename: Durga
authors.initials: D
authors.lastname: Kanigicherla
authors.affiliation: Salford Royal NHS Foundation Trust , Salford , UK.
authors.forename: Edmond
authors.initials: E
authors.lastname: O'Riordan
authors.affiliation: Salford Royal NHS Foundation Trust , Salford , UK.
authors.forename: Puchimada
authors.initials: P
authors.lastname: Uthappa
authors.affiliation: Salford Royal NHS Foundation Trust , Salford , UK.
authors.forename: Constantina
authors.initials: C
authors.lastname: Chrysochou
keywords: MYH9 gene; MYH9-related disorders; end-stage renal disease; thrombocytopaenia