Successful renal transplantation in MYH9-related disorder with severe macrothrombocytopenia: First report in Korea

Transplantation Proceedings

Volumn 46, Issue 2, 2014, Pages 654-656

  Min, S Y ^a   Ahn, H J ^a   Park, W S ^a   Kim, J W ^b  

^a Kyung Hee University College of Medicine   (South Korea)

^b Yonsei University Wonju College of Medicine   (South Korea)

Author keywords

[No Author keywords available]

Indexed keywords

CYCLOSPORIN; METHYLPREDNISOLONE; MYOSIN IIA; STEROID;

ADOLESCENT; ADULT; AUTOSOMAL DOMINANT DISORDER; BRAIN HEMORRHAGE; CASE REPORT; CATARACT; CATARACT EXTRACTION; CELL INCLUSION; CHRONIC KIDNEY DISEASE; CONFERENCE PAPER; DISEASE SEVERITY; END STAGE RENAL DISEASE; FECHTNER SYNDROME; FEMALE; GENE; GLOMERULOPATHY; HEARING AID; HEMATOMA; HEMIPARESIS; HUMAN; HUMAN TISSUE; IDIOPATHIC THROMBOCYTOPENIC PURPURA; KIDNEY BIOPSY; KIDNEY FUNCTION; KIDNEY TRANSPLANTATION; KOREA; LEUKOCYTE; LIVING DONOR; MALE; MYH9 GENE; MYH9 RELATED DISORDER; PERCEPTION DEAFNESS; PRIORITY JOURNAL; PROLIFERATIVE GLOMERULONEPHRITIS; PROTEINURIA; REOPERATION; SYNDROME; THROMBOCYTE COUNT; THROMBOCYTE TRANSFUSION; THROMBOCYTOPENIA; YOUNG ADULT; COMPLICATION; HEARING LOSS, SENSORINEURAL; SEVERITY OF ILLNESS INDEX; SOUTH KOREA; TREATMENT OUTCOME;

ADOLESCENT; ADULT; FEMALE; HEARING LOSS, SENSORINEURAL; HUMANS; KIDNEY TRANSPLANTATION; MALE; REPUBLIC OF KOREA; SEVERITY OF ILLNESS INDEX; THROMBOCYTOPENIA; TREATMENT OUTCOME;

EID: 84896455997     PISSN: 00411345     EISSN: 18732623     Source Type: Journal    
DOI: 10.1016/j.transproceed.2013.11.144     Document Type: Conference Paper

References (15)

1. M.J. Kelley, W. Jawien, and T.L. Ortel et al. Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly Nat Genet 26 2000 106
2. S. Kunishima, T. Kojima, and T. Matsushita et al. Mutations in the NMMHC-A gene cause autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly/Sebastian syndrome) Blood 97 2001 1147
3. M. Seri, R. Cusano, and S. Gangarossa et al. Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium Nat Genet 26 2000 103
4. K.E. Heath, A. Campos-Barros, and A. Toren et al. Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes Am J Hum Genet 69 2001 1033
5. S. Kunishima, T. Matsushita, and T. Kojima et al. Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions J Hum Genet 46 2001 722
6. M. Seri, A. Pecci, and F. Di Bari et al. MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness Medicine 82 2003 203
7. T. Sekine, M. Konno, and S. Sasaki et al. Patients with Epstein-Fechtner syndromes owing to MYH9 R702 mutations develop progressive proteinuric renal disease Kidney Int 78 2010 207
8. K. Althaus, and A. Greinacher MYH9-related platelet disorders Semin Thromb Hemost 35 2009 189
9. N. Singh, N. Nainani, and P. Arora et al. CKD in MYH9-related disorders Am J Kidney Dis 54 2009 732
10. C.L. Balduini, A. Pecci, and A. Savoia Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias Br J Haematol 154 2011 161
11. P. Noris, P. Spedini, and S. Belletti et al. Thrombocytopenia, giant platelets, and leukocyte inclusion bodies (May-Hegglin anomaly): clinical and laboratory findings Am J Med 104 1998 355
12. S. Kunishima, M. Yoshinari, and H. Nishio et al. Haematological characteristics of MYH9 disorders due to MYH9 R702 mutations Eur J Haematol 78 2007 220
13. A. Pecci, P. Gresele, and C. Klersy et al. Eltrombopag for the treatment of the inherited thrombocytopenia deriving from MYH9 mutations Blood 116 2010 5832
14. T.F. Leung, W.C. Tsoi, and C.K. Li et al. A Chinese adolescent girl with Fechtner-like syndrome Acta Paediatr 87 1998 705
15. G. Liumbruno, F. Bennardello, and A. Lattanzio et al. Recommendations for the transfusion of plasma and platelets Blood Transfus 7 2009 132