Das Fechtner-Syndrom gehört zu den MYH9-assoziierten Erkrankungen. Es ist eine phänotypische Variante mit Makrothrombozytämie, Leukozyteneinschlüssen, Nephritis, Innenohrschwerhörigkeit und Katarakt. Die Vererbung ist autosomal dominant.
1. |
Mhatre AN et al. (2003) Macrothrombocytopenia and progressive deafness is due to a mutation in MYH9. |
2. |
Cabrera JR et al. (1981) Defective neutrophil mobility in the May-Hegglin anomaly. |
3. |
Rocca B et al. (1993) Fechtner syndrome: report of a third family and literature review. |
4. |
Toren A et al. (1999) Genetic linkage of autosomal-dominant Alport syndrome with leukocyte inclusions and macrothrombocytopenia (Fechtner syndrome) to chromosome 22q11-13. |
5. |
Kunishima S et al. (1999) Mapping of a gene for May-Hegglin anomaly to chromosome 22q. |
6. |
Martignetti JA et al. (2000) The gene for May-Hegglin anomaly localizes to a <1-Mb region on chromosome 22q12.3-13.1. |
7. |
Kelley MJ et al. (2000) Autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly) is linked to chromosome 22q12-13. |
8. |
Seri M et al. (2000) Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium. |
9. |
Kelley MJ et al. (2000) Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly. |
10. |
Toren A et al. (2000) Autosomal-dominant giant platelet syndromes: a hint of the same genetic defect as in Fechtner syndrome owing to a similar genetic linkage to chromosome 22q11-13. |
13. |
OSKI FA et al. (1962) Leukocytic inclusionsDohle bodiesassociated with platelet abnormality (the May-Hegglin anomaly). Report of a family and review of the literature. |
14. |
JORDAN SW et al. (1965) ULTRASTRUCTURAL STUDIES OF THE MAY-HEGGLIN ANOMALY. |
16. |
Utsch B et al. (2006) Bladder exstrophy and Epstein type congenital macrothrombocytopenia: evidence for a common cause? |
17. |
Pecci A et al. (2008) Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease. |
18. |
Savoia A et al. (2010) Heavy chain myosin 9-related disease (MYH9 -RD): neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder. |
19. |
None (1945) [Not Available]. |
20. |
Balduini CL et al. (2011) Recent advances in the understanding and management of MYH9-related inherited thrombocytopenias. |
21. |
Epstein CJ et al. (1972) Hereditary macrothrombocytopathia, nephritis and deafness. |
22. |
Kunishima S et al. (1997) Missense mutations of the glycoprotein (GP) Ib beta gene impairing the GPIb alpha/beta disulfide linkage in a family with giant platelet disorder. |
23. |
Hansen MS et al. (1978) Megathrombocytopenia associated with glomerulonephritis, deafness and aortic cystic medianecrosis. |
24. |
Bernheim J et al. (1976) Thrombocytopenia, macrothrombocytopathia, nephritis and deafness. |
25. |
Parsa KP et al. (1976) Hereditary nephritis, deafness and abnormal thrombopoiesis. Study of a new kindred. |
26. |
Eckstein JD et al. (1975) Hereditary thrombocytopenia, deafness, and renal disease. |
27. |
Nel N et al. (1992) Coincidental finding of May-Hegglin anomaly in a patient with end-stage renal failure. |
28. |
Greinacher A et al. (1992) May-Hegglin anomaly: a rare cause of thrombocytopenia. |
29. |
Brodie HA et al. (1992) Macrothrombocytopenia and progressive deafness: a new genetic syndrome. |
30. |
M'Rad R et al. (1992) Alport syndrome: a genetic study of 31 families. |
31. |
Greinacher A et al. (1990) Hereditary types of thrombocytopenia with giant platelets and inclusion bodies in the leukocytes. |
32. |
Fujita Y et al. (1990) Familial case of May-Hegglin anomaly associated with familial spastic paraplegia. |
33. |
Greinacher A et al. (1990) Sebastian platelet syndrome: a new variant of hereditary macrothrombocytopenia with leukocyte inclusions. |
34. |
Heynen MJ et al. (1988) Congenital macrothrombocytopenia, leucocyte inclusions, deafness and proteinuria: functional and electron microscopic observations on platelets and megakaryocytes. |
35. |
Peterson LC et al. (1985) Fechtner syndrome--a variant of Alport's syndrome with leukocyte inclusions and macrothrombocytopenia. |
36. |
Gershoni-Baruch R et al. (1988) Fechtner syndrome: clinical and genetic aspects. |
37. |
Greaves M et al. (1987) A new familial 'giant platelet syndrome' with structural, metabolic and functional abnormalities of platelets due to a primary megakaryocyte defect. |
38. |
Godwin HA et al. (1974) May-Hegglin anomaly: a defect in megakaryocyte fragmentation? |
39. |
Jenis EH et al. (1971) The May-Hegglin anomaly: ultrastructure of the granulocytic inclusion. |
40. |
OMIM.ORG article Omim 155100 |
41. |
Orphanet article Orphanet ID 1984 |