Abstract | INTRODUCTION: The group of autosomal dominant disorders - Epstein syndrome, Sebastian syndrome, Fechthner syndrome and May-Hegglin anomaly - are characterised by thrombocytopenia with giant platelets, inclusion bodies in granulocytes and variable levels of deafness, disturbances of vision and renal function impairment. A common genetic background of these disorders are mutations in MYH9 gene, coding for the nonmuscle myosin heavy chain IIA. Differential diagnosis is important for the adequate treatment strategy. The aim of this case report was to present a patient with MYH9 disorder in Serbia. CASE REPORT: CONCLUSION: Early recognition of MYH9-related diseases is essential to avoid unnecessary and potentially harmful treatments for misdiagnosed immune thrombocytopenia, and also for timely and proper therapy in attempt to delay end-stage renal failure and improve quality of life.
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Authors | Milos Kuzmanović, Shinji Kunishima, Jovana Putnik, Natasa Stajić, Aleksandra Paripović, Radovan Bogdanović |
Journal | Vojnosanitetski pregled
(Vojnosanit Pregl)
Vol. 71
Issue 4
Pg. 395-8
(Apr 2014)
ISSN: 0042-8450 [Print] Serbia |
PMID | 24783421
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- MYH9 protein, human
- Molecular Motor Proteins
- Myosin Heavy Chains
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Topics |
- Adolescent
- Diagnosis, Differential
- Fluorescent Antibody Technique
- Hearing Loss, Sensorineural
(diagnosis, genetics, physiopathology)
- Humans
- Male
- Molecular Motor Proteins
(genetics)
- Mutation
- Myosin Heavy Chains
(genetics)
- Nephritis
(congenital, etiology)
- Platelet Count
- Serbia
- Thrombocytopenia
(congenital, diagnosis, genetics, physiopathology)
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