CKD in MYH9-Related Disorders

American Journal of Kidney Diseases

Volumn 54, Issue 4, 2009, Pages 732-740

  Singh, Neeraj ^a   Nainani, Neha ^b   Arora, Pradeep ^b   Venuto, Rocco C ^b  

^a OHIO STATE UNIVERSITY   (United States)

^b UNIVERSITY AT BUFFALO   (United States)

Author keywords

Alport syndrome; Chronic kidney disease (CKD); Epstein syndrome; Fechtner syndrome; May Hegglin anomaly; MYH9; Sebastian syndrome

Indexed keywords

ANGIOTENSIN RECEPTOR ANTAGONIST; ANTIFIBRINOLYTIC AGENT; CORTICOSTEROID; DESMOPRESSIN; DIPEPTIDYL CARBOXYPEPTIDASE INHIBITOR; IMMUNOGLOBULIN; STEROID;

AFRICAN AMERICAN; ALPORT SYNDROME; ARTICLE; AUTOIMMUNE THROMBOCYTOPENIA; BLEEDING; CHRONIC KIDNEY DISEASE; CLINICAL FEATURE; DIAGNOSTIC ACCURACY; DISEASE ASSOCIATION; DISEASE COURSE; DISEASE SEVERITY; GENE EXPRESSION; GENE MUTATION; GENETIC VARIABILITY; GLOMERULONEPHRITIS; HEREDITARY THROMBOCYTOPENIA; HUMAN; KIDNEY; KIDNEY FAILURE; KIDNEY TRANSPLANTATION; LABORATORY TEST; LEUKOCYTE; MAY HEGGLIN ANOMALY; MYH9 RELATED DISORDER; NEPHRITIS; PATHOGENESIS; SPLENECTOMY; THROMBOCYTE; THROMBOCYTE TRANSFUSION; THROMBOCYTOPENIA;

AFRICAN AMERICANS; BLOOD PLATELETS; HUMANS; LEUKOCYTES; MOLECULAR MOTOR PROTEINS; MUTATION; MYOSIN HEAVY CHAINS; NEPHRITIS, HEREDITARY; RENAL INSUFFICIENCY, CHRONIC; SYNDROME;

EID: 70349246313     PISSN: 02726386     EISSN: None     Source Type: Journal    
DOI: 10.1053/j.ajkd.2009.06.023     Document Type: Article

References (54)

1. Seri M., Cusano R., Gangarossa S., et al. Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Hegglin/Fechtner Syndrome Consortium. Nat Genet 26 (2000) 103-105
2. Kelley M.J., Jawien W., Ortel T.L., and Korczak J.F. Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly. Nat Genet 26 (2000) 106-108
3. Seri M., Savino M., Bordo D., et al. Epstein syndrome: Another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene. Hum Genet 110 (2002) 182-186
4. Kunishima S., Kojima T., Tanaka T., et al. Mapping of a gene for May-Hegglin anomaly to chromosome 22q. Hum Genet 105 (1999) 379-383
5. May R. Leukozyteneinschlusse. Deutsch Arch Klin Med 96 (1909) 1-6
6. Hegglin R. Gleichzeitige konstitutionelle veranderungen an neutrophilen und Thrombozyten. Helv Med Acta 12 (1945) 439-440
7. Greinacher A., Nieuwenhuis H.K., and White J.G. Sebastian platelet syndrome: A new variant of hereditary macrothrombocytopenia with leukocyte inclusions. Blut 61 (1990) 282-288
8. Peterson L.C., Rao K.V., Crosson J.T., and White J.G. Fechtner syndrome-A variant of Alport's syndrome with leukocyte inclusions and macrothrombocytopenia. Blood 65 (1985) 397-406
9. Epstein C.J., Sahud M.A., Piel C.F., et al. Hereditary macrothrombocytopathia, nephritis and deafness. Am J Med 52 (1972) 299-310
10. Cawley J.C., and Hayhoe F.G. The inclusions of the May-Hegglin anomaly and Dohle bodies of infection: An ultrastructural comparison. Br J Haematol 22 (1972) 491-496
11. Balduini C.L., Iolascon A., and Savoia A. Inherited thrombocytopenias: From genes to therapy. Haematologica 87 (2002) 860-880
12. Seri M., Pecci A., Di Bari F., 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 (Baltimore) 82 (2003) 203-215
13. Heath K.E., Campos-Barros A., Toren A., 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) 1033-1045
14. Kunishima S., Matsushita T., Kojima T., et al. Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions. J Hum Genet 46 (2001) 722-729
15. No authors listed. A.C. Alport. Br Med J 1 (1959) 1191-1192
16. Kopp J.B., Smith M.W., Nelson G.W., et al. MYH9 is a major-effect risk gene for focal segmental glomerulosclerosis. Nat Genet 40 (2008) 1175-1184
17. Kao W.H., Klag M.J., Meoni L.A., et al. MYH9 is associated with nondiabetic end-stage renal disease in African Americans. Nat Genet 40 (2008) 1185-1192
18. Freedman B.I., Hicks P.J., Bostrom M.A., et al. Polymorphisms in the non-muscle myosin heavy chain 9 gene (MYH9) are strongly associated with end-stage renal disease historically attributed to hypertension in African Americans. Kidney Int 75 (2009) 736-745
19. Freedman B.I., Kopp J.B., Winkler C.A., et al. Polymorphisms in the nonmuscle myosin heavy chain 9 gene (MYH9) are associated with albuminuria in hypertensive African Americans: The HyperGEN Study. Am J Nephrol 29 (2009) 626-632
20. Dong F., Li S., Pujol-Moix N., et al. Genotype-phenotype correlation in MYH9-related thrombocytopenia. Br J Haematol 130 (2005) 620-627
21. Pecci A., Panza E., Pujol-Moix N., et al. Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease. Hum Mutat 29 (2008) 409-417
22. Kunishima S., Matsushita T., Yoshihara T., et al. First description of somatic mosaicism in MYH9 disorders. Br J Haematol 128 (2005) 360-365
23. Kunishima S., Takaki K., Ito Y., and Saito H. Germinal mosaicism in MYH9 disorders: A family with two affected siblings of normal parents. Br J Haematol 145 (2009) 260-262
24. Simons M., Wang M., McBride O.W., et al. Human nonmuscle myosin heavy chains are encoded by two genes located on different chromosomes. Circ Res 69 (1991) 530-539
25. Berg J.S., Powell B.C., and Cheney R.E. A millennial myosin census. Mol Biol Cell 12 (2001) 780-794
26. Sellers J.R. Myosins: A diverse superfamily. Biochim Biophys Acta 1496 (2000) 3-22
27. Maupin P., Phillips C.L., Adelstein R.S., and Pollard T.D. Differential localization of myosin-II isozymes in human cultured cells and blood cells. J Cell Sci 107 (1994) 3077-3090
28. Marigo V., Nigro A., Pecci A., et al. Correlation between the clinical phenotype of MYH9-related disease and tissue distribution of class II nonmuscle myosin heavy chains. Genomics 83 (2004) 1125-1133
29. Chen Z., Naveiras O., Balduini A., et al. The May-Hegglin anomaly gene MYH9 is a negative regulator of platelet biogenesis modulated by the Rho-ROCK pathway. Blood 110 (2007) 171-179
30. Davis J.W., and Wilson S.J. Platelet survival in the May-Hegglin anomaly. Br J Haematol 12 (1966) 61-65
31. Greinacher A., and Mueller-Eckhardt C. Hereditary types of thrombocytopenia with giant platelets and inclusion bodies in the leukocytes. Blut 60 (1990) 53-60
32. Kunishima S., Hamaguchi M., and Saito H. Differential expression of wild-type and mutant NMMHC-IIA polypeptides in blood cells suggests cell-specific regulation mechanisms in MYH9 disorders. Blood 111 (2008) 3015-3023
33. Kunishima S., Kojima T., Matsushita T., et al. Mutations in the NMMHC-A gene cause autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly/Sebastian syndrome). Blood 97 (2001) 1147-1149
34. Pecci A., Noris P., Invernizzi R., et al. Immunocytochemistry for the heavy chain of the non-muscle myosin IIA as a diagnostic tool for MYH9-related disorders. Br J Haematol 117 (2002) 164-167
35. Hartwig J.H., and DeSisto M. The cytoskeleton of the resting human blood platelet: Structure of the membrane skeleton and its attachment to actin filaments. J Cell Biol 112 (1991) 407-425
36. Wei Q., and Adelstein R.S. Conditional expression of a truncated fragment of nonmuscle myosin II-A alters cell shape but not cytokinesis in HeLa cells. Mol Biol Cell 11 (2000) 3617-3627
37. Milton J.G., Hutton R.A., Tuddenham E.G., and Frojmovic M.M. Platelet size and shape in hereditary giant platelet syndromes on blood smear and in suspension: Evidence for two types of abnormalities. J Lab Clin Med 106 (1985) 326-335
38. Di Pumpo M., Noris P., Pecci A., et al. Defective expression of GPIb/IX/V complex in platelets from patients with May-Hegglin anomaly and Sebastian syndrome. Haematologica 87 (2002) 943-947
39. Kunishima S., Matsushita T., Kojima T., et al. Immunofluorescence analysis of neutrophil nonmuscle myosin heavy chain-A in MYH9 disorders: Association of subcellular localization with MYH9 mutations. Lab Invest 83 (2003) 115-122
40. Mills E.L., and Quie P.G. Congenital disorders of the function of polymorphonuclear neutrophils. Rev Infect Dis 2 (1980) 505-517
41. Arrondel C., Vodovar N., Knebelmann B., et al. Expression of the nonmuscle myosin heavy chain IIA in the human kidney and screening for MYH9 mutations in Epstein and Fechtner syndromes. J Am Soc Nephrol 13 (2002) 65-74
42. Ghiggeri G.M., Caridi G., Magrini U., et al. Genetics, clinical and pathological features of glomerulonephritis associated with mutations of nonmuscle myosin IIA (Fechtner syndrome). Am J Kidney Dis 41 (2003) 95-104
43. Drenckhahn D., and Franke R.P. Ultrastructural organization of contractile and cytoskeletal proteins in glomerular podocytes of chicken, rat, and man. Lab Invest 59 (1988) 673-682
44. Kobor J., Turi S., Erdos A., Bodrogi T., and Virag I. [Macrothrombopenia, nephritis and hearing loss-A new case of Epstein syndrome]. Orv Hetil 132 (1991) 1875-1877
45. Iyori H., Tokushige A., Ishitoya N., et al. [A case report of Epstein syndrome]. Nippon Jinzo Gakkai Shi 37 (1995) 62-68
46. Moxey-Mims M.M., Young G., Silverman A., Selby D.M., White J.G., and Kher K.K. End-stage renal disease in two pediatric patients with Fechtner syndrome. Pediatr Nephrol 13 (1999) 782-786
47. Hamilton R.W., Shaikh B.S., Ottie J.N., Storch A.E., Saleem A., and White J.G. Platelet function, ultrastructure, and survival in the May-Hegglin anomaly. Am J Clin Pathol 74 (1980) 663-668
48. Jenis E.H., Takeuchi A., Dillon D.E., Ruymann F.B., and Rivkin S. The May-Hegglin anomaly: Ultrastructure of the granulocytic inclusion. Am J Clin Pathol 55 (1971) 187-196
49. Raveh D., Krausz Y., and Eldor A. Successful splenectomy in May-Hegglin anomaly: Report of a case with platelet kinetic studies. Acta Haematol 82 (1989) 43-45
50. Lalwani A.K., Goldstein J.A., Kelley M.J., Luxford W., Castelein C.M., and Mhatre A.N. Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9. Am J Hum Genet 67 (2000) 1121-1128
51. Balduini C.L., Noris P., Belletti S., Spedini P., and Gamba G. In vitro and in vivo effects of desmopressin on platelet function. Haematologica 84 (1999) 891-896
52. Pecci A., Granata A., Fiore C.E., and Balduini C.L. Renin-angiotensin system blockade is effective in reducing proteinuria of patients with progressive nephropathy caused by MYH9 mutations (Fechtner-Epstein syndrome). Nephrol Dial Transplant 23 (2008) 2690-2692
53. Alving B.M., Tarassoff P.G., Moore Jr. J., Leissenger C.A., and Fernandez-Bueno C. Successful renal transplantation for Epstein syndrome. Am J Hematol 21 (1986) 111-113
54. Urato A.C., and Repke J.T. May-Hegglin anomaly: A case of vaginal delivery when both mother and fetus are affected. Am J Obstet Gynecol 179 (1998) 260-261