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...

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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
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author Vassallo, Diana
Erekosima, Ibi
Kanigicherla, Durga
O'Riordan, Edmond
Uthappa, Puchimada
Chrysochou, Constantina
author_facet Vassallo, Diana
Erekosima, Ibi
Kanigicherla, Durga
O'Riordan, Edmond
Uthappa, Puchimada
Chrysochou, Constantina
author_sort Vassallo, Diana
collection PubMed
description 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.
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spelling pubmed-44384082015-05-26 Myosin heavy chain-9-related disorders (MYH9-RD): a case report Vassallo, Diana Erekosima, Ibi Kanigicherla, Durga O'Riordan, Edmond Uthappa, Puchimada Chrysochou, Constantina Clin Kidney J Clinical Cases 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. Oxford University Press 2013-10 2013-09-01 /pmc/articles/PMC4438408/ /pubmed/26015866 http://dx.doi.org/10.1093/ckj/sft094 Text en © The Author 2013. Published by Oxford University Press on behalf of ERA-EDTA. All rights reserved. For permissions, please email: journals.permissions@oup.com. http://creativecommons.org/licenses/by-nc/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.com
spellingShingle Clinical Cases
Vassallo, Diana
Erekosima, Ibi
Kanigicherla, Durga
O'Riordan, Edmond
Uthappa, Puchimada
Chrysochou, Constantina
Myosin heavy chain-9-related disorders (MYH9-RD): a case report
title Myosin heavy chain-9-related disorders (MYH9-RD): a case report
title_full Myosin heavy chain-9-related disorders (MYH9-RD): a case report
title_fullStr Myosin heavy chain-9-related disorders (MYH9-RD): a case report
title_full_unstemmed Myosin heavy chain-9-related disorders (MYH9-RD): a case report
title_short Myosin heavy chain-9-related disorders (MYH9-RD): a case report
title_sort myosin heavy chain-9-related disorders (myh9-rd): a case report
topic Clinical Cases
url 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
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