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Fechtner Syndrome(FTNS)

MedGen UID:
96041
•Concept ID:
C0403445
•
Disease or Syndrome
Synonyms: FECHTNER SYNDROME; FTNS
 
OMIM®: 155100

Definition

An autosomal dominant disorder characterized by the triad of thrombocytopenia, giant platelets, and characteristic inclusions in peripheral blood leukocytes, with the additional features of nephritis, hearing loss, and eye abnormalities, mostly cataracts; it is associated with mutation of the MYH9 gene. [from NCI]

Professional guidelines

PubMed

Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions.
Kunishima S, Matsushita T, Kojima T, Amemiya N, Choi YM, Hosaka N, Inoue M, Jung Y, Mamiya S, Matsumoto K, Miyajima Y, Zhang G, Ruan C, Saito K, Song KS, Yoon HJ, Kamiya T, Saito H
J Hum Genet 2001;46(12):722-9. doi: 10.1007/s100380170007. PMID: 11776386

Recent clinical studies

Etiology

MYH9 related platelet disorders - often unknown and misdiagnosed.
Althaus K, Najm J, Greinacher A
Klin Padiatr 2011 May;223(3):120-5. Epub 2011 May 12 doi: 10.1055/s-0031-1275664. PMID: 21567368
MYH9-related platelet disorders.
Althaus K, Greinacher A
Semin Thromb Hemost 2009 Mar;35(2):189-203. Epub 2009 Apr 30 doi: 10.1055/s-0029-1220327. PMID: 19408192
Perioperative management of MYH9 hereditary macrothrombocytopenia (Fechtner syndrome).
Selleng K, Lubenow LE, Greinacher A, Warkentin TE
Eur J Haematol 2007 Sep;79(3):263-8. Epub 2007 Jul 26 doi: 10.1111/j.1600-0609.2007.00913.x. PMID: 17655694
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.
Seri M, Pecci A, Di Bari F, Cusano R, Savino M, Panza E, Nigro A, Noris P, Gangarossa S, Rocca B, Gresele P, Bizzaro N, Malatesta P, Koivisto PA, Longo I, Musso R, Pecoraro C, Iolascon A, Magrini U, Rodriguez Soriano J, Renieri A, Ghiggeri GM, Ravazzolo R, Balduini CL, Savoia A
Medicine (Baltimore) 2003 May;82(3):203-15. doi: 10.1097/01.md.0000076006.64510.5c. PMID: 12792306
Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome.
Deutsch S, Rideau A, Bochaton-Piallat ML, Merla G, Geinoz A, Gabbiani G, Schwede T, Matthes T, Antonarakis SE, Beris P
Blood 2003 Jul 15;102(2):529-34. Epub 2003 Mar 20 doi: 10.1182/blood-2002-09-2783. PMID: 12649151

Diagnosis

Familial kidney failure with macro-thrombocytopenia: Answers.
Sethi SK, Goel S, Vadhera A, Raaj H, Mahato SK, Jha PK, Bansal SB, Raina R
Pediatr Nephrol 2022 Aug;37(8):1801-1803. Epub 2022 Feb 15 doi: 10.1007/s00467-022-05459-8. PMID: 35166924
Genetics of familial forms of thrombocytopenia.
Balduini CL, Savoia A
Hum Genet 2012 Dec;131(12):1821-32. Epub 2012 Aug 11 doi: 10.1007/s00439-012-1215-x. PMID: 22886561
MYH9 related platelet disorders - often unknown and misdiagnosed.
Althaus K, Najm J, Greinacher A
Klin Padiatr 2011 May;223(3):120-5. Epub 2011 May 12 doi: 10.1055/s-0031-1275664. PMID: 21567368
MYH9-related platelet disorders.
Althaus K, Greinacher A
Semin Thromb Hemost 2009 Mar;35(2):189-203. Epub 2009 Apr 30 doi: 10.1055/s-0029-1220327. PMID: 19408192
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.
Seri M, Pecci A, Di Bari F, Cusano R, Savino M, Panza E, Nigro A, Noris P, Gangarossa S, Rocca B, Gresele P, Bizzaro N, Malatesta P, Koivisto PA, Longo I, Musso R, Pecoraro C, Iolascon A, Magrini U, Rodriguez Soriano J, Renieri A, Ghiggeri GM, Ravazzolo R, Balduini CL, Savoia A
Medicine (Baltimore) 2003 May;82(3):203-15. doi: 10.1097/01.md.0000076006.64510.5c. PMID: 12792306

Therapy

Acute myeloid leukemia in a child with hereditary thrombocytopenia.
Rheingold SR
Pediatr Blood Cancer 2007 Jan;48(1):105-7. doi: 10.1002/pbc.20677. PMID: 16276527
Identification of a new mutation in the alpha4(IV) collagen gene in a family with autosomal dominant Alport syndrome and hypercholesterolaemia.
Ciccarese M, Casu D, Ki Wong F, Faedda R, Arvidsson S, Tonolo G, Luthman H, Satta A
Nephrol Dial Transplant 2001 Oct;16(10):2008-12. doi: 10.1093/ndt/16.10.2008. PMID: 11572889
Perioperative management of a patient with Fechtner syndrome.
Matzdorff AC, White JG, Malzahn K, Greinacher A
Ann Hematol 2001 Jul;80(7):436-9. doi: 10.1007/s002770100310. PMID: 11529472

Prognosis

Report of a young girl with MYH9 mutation and review of the literature.
Landi D, Lockhart E, Miller SE, Datto M, Rehder C, Kanaly A, Thornburg CD
J Pediatr Hematol Oncol 2012 Oct;34(7):538-40. doi: 10.1097/MPH.0b013e3182678fc9. PMID: 23007341
Ultrastructural analysis of granulocyte inclusions in genetically confirmed MYH9-related disorders.
Pujol-Moix N, Kelley MJ, Hernández A, Muñiz-Diaz E, Español I
Haematologica 2004 Mar;89(3):330-7. PMID: 15020273
Epstein syndrome: another renal disorder with mutations in the nonmuscle myosin heavy chain 9 gene.
Seri M, Savino M, Bordo D, Cusano R, Rocca B, Meloni I, Di Bari F, Koivisto PA, Bolognesi M, Ghiggeri GM, Landolfi R, Balduini CL, Zelante L, Ravazzolo R, Renieri A, Savoia A
Hum Genet 2002 Feb;110(2):182-6. Epub 2001 Dec 14 doi: 10.1007/s00439-001-0659-1. PMID: 11935325
Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium.
Seri M, Cusano R, Gangarossa S, Caridi G, Bordo D, Lo Nigro C, Ghiggeri GM, Ravazzolo R, Savino M, Del Vecchio M, d'Apolito M, Iolascon A, Zelante LL, Savoia A, Balduini CL, Noris P, Magrini U, Belletti S, Heath KE, Babcock M, Glucksman MJ, Aliprandis E, Bizzaro N, Desnick RJ, Martignetti JA
Nat Genet 2000 Sep;26(1):103-5. doi: 10.1038/79063. PMID: 10973259

Clinical prediction guides

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.
Seri M, Pecci A, Di Bari F, Cusano R, Savino M, Panza E, Nigro A, Noris P, Gangarossa S, Rocca B, Gresele P, Bizzaro N, Malatesta P, Koivisto PA, Longo I, Musso R, Pecoraro C, Iolascon A, Magrini U, Rodriguez Soriano J, Renieri A, Ghiggeri GM, Ravazzolo R, Balduini CL, Savoia A
Medicine (Baltimore) 2003 May;82(3):203-15. doi: 10.1097/01.md.0000076006.64510.5c. PMID: 12792306
Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. The May-Heggllin/Fechtner Syndrome Consortium.
Seri M, Cusano R, Gangarossa S, Caridi G, Bordo D, Lo Nigro C, Ghiggeri GM, Ravazzolo R, Savino M, Del Vecchio M, d'Apolito M, Iolascon A, Zelante LL, Savoia A, Balduini CL, Noris P, Magrini U, Belletti S, Heath KE, Babcock M, Glucksman MJ, Aliprandis E, Bizzaro N, Desnick RJ, Martignetti JA
Nat Genet 2000 Sep;26(1):103-5. doi: 10.1038/79063. PMID: 10973259
Genetic linkage of autosomal-dominant Alport syndrome with leukocyte inclusions and macrothrombocytopenia (Fechtner syndrome) to chromosome 22q11-13.
Toren A, Amariglio N, Rozenfeld-Granot G, Simon AJ, Brok-Simoni F, Pras E, Rechavi G
Am J Hum Genet 1999 Dec;65(6):1711-7. doi: 10.1086/302654. PMID: 10577925Free PMC Article
Fechtner syndrome: report of a third family and literature review.
Rocca B, Laghi F, Zini G, Maggiano N, Landolfi R
Br J Haematol 1993 Oct;85(2):423-6. doi: 10.1111/j.1365-2141.1993.tb03193.x. PMID: 8280620
Fechtner syndrome--a variant of Alport's syndrome with leukocyte inclusions and macrothrombocytopenia.
Peterson LC, Rao KV, Crosson JT, White JG
Blood 1985 Feb;65(2):397-406. PMID: 2981587

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