Congenital thrombocytopenia with nephritis: The first case of MYH9 related disorder in Serbia
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 a...
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| Format: | Article |
| Language: | English |
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Military Health Department, Ministry of Defance, Serbia
2014-01-01
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| Series: | Vojnosanitetski Pregled |
| Subjects: | |
| Online Access: | http://www.doiserbia.nb.rs/img/doi/0042-8450/2014/0042-84501400001K.pdf |
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| author | Kuzmanović Miloš Kunishima Shinji Putnik Jovana Stajić Nataša Paripović Aleksandra Bogdanović Radovan |
| author_facet | Kuzmanović Miloš Kunishima Shinji Putnik Jovana Stajić Nataša Paripović Aleksandra Bogdanović Radovan |
| author_sort | Kuzmanović Miloš |
| collection | DOAJ |
| description | 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. A 16-year-old boy was referred to our hospital with the
diagnosis of resistant immune thrombocytopenia for splenectomy.
Thrombocytopenia was incidentally discovered at the age of five. The
treatment with corticosteroids on several occasions was unsuccessful.
Although the platelet count was below 10 × 109/L, there were no bleeding
symptoms. Besides thrombocytopenia with giant platelets, on admission the
patient also suffered sensorineuronal hearing loss and proteinuria. The
diagnosis was confirmed with immunofluorescence and genetic analyses.
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. [Projekat Ministartsva
nauke Republike Srbije, br. 175056 i br. 15079] |
| first_indexed | 2024-12-10T19:54:57Z |
| format | Article |
| id | doaj.art-21f798b39714438589be6169b2f409f0 |
| institution | Directory Open Access Journal |
| issn | 0042-8450 |
| language | English |
| last_indexed | 2024-12-10T19:54:57Z |
| publishDate | 2014-01-01 |
| publisher | Military Health Department, Ministry of Defance, Serbia |
| record_format | Article |
| series | Vojnosanitetski Pregled |
| spelling | doaj.art-21f798b39714438589be6169b2f409f02022-12-22T01:35:40ZengMilitary Health Department, Ministry of Defance, SerbiaVojnosanitetski Pregled0042-84502014-01-0171439539810.2298/VSP121127001K0042-84501400001KCongenital thrombocytopenia with nephritis: The first case of MYH9 related disorder in SerbiaKuzmanović Miloš0Kunishima Shinji1Putnik Jovana2Stajić Nataša3Paripović Aleksandra4Bogdanović Radovan5Faculty of Medicine, Belgrade + Institute of Mother and Child Health Care of Serbia, BelgradeNational Hospital Organization, Clinical Research Center, Department of Advanced Diagnosis, Nagoya Medical Center, Nagoya, JapanInstitute of Mother and Child Health Care of Serbia, BelgradeFaculty of Medicine, Belgrade + Institute of Mother and Child Health Care of Serbia, BelgradeInstitute of Mother and Child Health Care of Serbia, BelgradeFaculty of Medicine, Belgrade + Institute of Mother and Child Health Care of Serbia, BelgradeIntroduction. 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. A 16-year-old boy was referred to our hospital with the diagnosis of resistant immune thrombocytopenia for splenectomy. Thrombocytopenia was incidentally discovered at the age of five. The treatment with corticosteroids on several occasions was unsuccessful. Although the platelet count was below 10 × 109/L, there were no bleeding symptoms. Besides thrombocytopenia with giant platelets, on admission the patient also suffered sensorineuronal hearing loss and proteinuria. The diagnosis was confirmed with immunofluorescence and genetic analyses. 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. [Projekat Ministartsva nauke Republike Srbije, br. 175056 i br. 15079]http://www.doiserbia.nb.rs/img/doi/0042-8450/2014/0042-84501400001K.pdfthrombocytopenianephritis hereditarymyosin heavy chainsdiagnosis, Serbia |
| spellingShingle | Kuzmanović Miloš Kunishima Shinji Putnik Jovana Stajić Nataša Paripović Aleksandra Bogdanović Radovan Congenital thrombocytopenia with nephritis: The first case of MYH9 related disorder in Serbia Vojnosanitetski Pregled thrombocytopenia nephritis hereditary myosin heavy chains diagnosis, Serbia |
| title | Congenital thrombocytopenia with nephritis: The first case of MYH9 related disorder in Serbia |
| title_full | Congenital thrombocytopenia with nephritis: The first case of MYH9 related disorder in Serbia |
| title_fullStr | Congenital thrombocytopenia with nephritis: The first case of MYH9 related disorder in Serbia |
| title_full_unstemmed | Congenital thrombocytopenia with nephritis: The first case of MYH9 related disorder in Serbia |
| title_short | Congenital thrombocytopenia with nephritis: The first case of MYH9 related disorder in Serbia |
| title_sort | congenital thrombocytopenia with nephritis the first case of myh9 related disorder in serbia |
| topic | thrombocytopenia nephritis hereditary myosin heavy chains diagnosis, Serbia |
| url | http://www.doiserbia.nb.rs/img/doi/0042-8450/2014/0042-84501400001K.pdf |
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