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Epstein Syndrome(EPSTNS)

MedGen UID:
97986
•Concept ID:
C0398641
•
Disease or Syndrome
Synonyms: EPSTEIN SYNDROME; EPSTNS
 
OMIM®: 155100

Definition

An autosomal dominant disorder characterized by thrombocytopenia, giant platelets, nephritis, and deafness; it is associated with mutation of the MYH9 gene. [from NCI]

Professional guidelines

PubMed

Expert consensus guidelines for the genetic diagnosis of Alport syndrome.
Savige J, Ariani F, Mari F, Bruttini M, Renieri A, Gross O, Deltas C, Flinter F, Ding J, Gale DP, Nagel M, Yau M, Shagam L, Torra R, Ars E, Hoefele J, Garosi G, Storey H
Pediatr Nephrol 2019 Jul;34(7):1175-1189. Epub 2018 Jul 9 doi: 10.1007/s00467-018-3985-4. PMID: 29987460
Diagnosis and treatment of MYH9-RD in an Australasian cohort with thrombocytopenia.
Rabbolini DJ, Chun Y, Latimer M, Kunishima S, Fixter K, Valecha B, Tan P, Chew LP, Kile BT, Burt R, Radhakrishnan K, Bird R, Ockelford P, Gabrielli S, Chen Q, Stevenson WS, Ward CM, Morel-Kopp MC
Platelets 2018 Dec;29(8):793-800. Epub 2017 Nov 1 doi: 10.1080/09537104.2017.1356920. PMID: 29090586
MYH9-related disease: a novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlations.
Pecci A, Klersy C, Gresele P, Lee KJ, De Rocco D, Bozzi V, Russo G, Heller PG, Loffredo G, Ballmaier M, Fabris F, Beggiato E, Kahr WH, Pujol-Moix N, Platokouki H, Van Geet C, Noris P, Yerram P, Hermans C, Gerber B, Economou M, De Groot M, Zieger B, De Candia E, Fraticelli V, Kersseboom R, Piccoli GB, Zimmermann S, Fierro T, Glembotsky AC, Vianello F, Zaninetti C, Nicchia E, Güthner C, Baronci C, Seri M, Knight PJ, Balduini CL, Savoia A
Hum Mutat 2014 Feb;35(2):236-47. Epub 2013 Dec 12 doi: 10.1002/humu.22476. PMID: 24186861Free PMC Article

Recent clinical studies

Etiology

Successful cochlear implantation in a patient with Epstein syndrome during long-term follow-up.
Mori A, Takeda H, Kobayashi M, Misawa T, Watanabe R, Abe S, Kumakawa K, Nishio S, Usami S, Yamasoba T
Auris Nasus Larynx 2022 Apr;49(2):308-312. Epub 2020 Sep 23 doi: 10.1016/j.anl.2020.09.008. PMID: 32980210
MYH9 Associated nephropathy.
Furlano M, Arlandis R, Venegas MDP, Novelli S, Crespi J, Bullich G, Ayasreh N, Remacha Á, Ruiz P, Lorente L, Ballarín J, Matamala A, Ars E, Torra R
Nefrologia (Engl Ed) 2019 Mar-Apr;39(2):133-140. Epub 2018 Nov 22 doi: 10.1016/j.nefro.2018.08.008. PMID: 30471777
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

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
Epstein Syndrome.
Barrah S, Kheder R, Jebali H, Krid M, Smaoui W, Beji S, Hmida FB, Fatma LB, Rais L, Zouaghi MK
Saudi J Kidney Dis Transpl 2020 Jul-Aug;31(4):865-867. doi: 10.4103/1319-2442.292323. PMID: 32801250
MYH9 Associated nephropathy.
Furlano M, Arlandis R, Venegas MDP, Novelli S, Crespi J, Bullich G, Ayasreh N, Remacha Á, Ruiz P, Lorente L, Ballarín J, Matamala A, Ars E, Torra R
Nefrologia (Engl Ed) 2019 Mar-Apr;39(2):133-140. Epub 2018 Nov 22 doi: 10.1016/j.nefro.2018.08.008. PMID: 30471777
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.
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

Therapy

Successful cochlear implantation in a patient with Epstein syndrome during long-term follow-up.
Mori A, Takeda H, Kobayashi M, Misawa T, Watanabe R, Abe S, Kumakawa K, Nishio S, Usami S, Yamasoba T
Auris Nasus Larynx 2022 Apr;49(2):308-312. Epub 2020 Sep 23 doi: 10.1016/j.anl.2020.09.008. PMID: 32980210
Successful Kidney Transplantation in Epstein Syndrome With Antiplatelet Antibodies and Donor-specific Antibodies: A Case Report.
Hashimoto J, Hamasaki Y, Yanagisawa T, Sekine T, Aikawa A, Shishido S
Transplant Proc 2015 Oct;47(8):2541-3. doi: 10.1016/j.transproceed.2015.09.010. PMID: 26518967
Renin-angiotensin system blockade is effective in reducing proteinuria of patients with progressive nephropathy caused by MYH9 mutations (Fechtner-Epstein syndrome).
Pecci A, Granata A, Fiore CE, Balduini CL
Nephrol Dial Transplant 2008 Aug;23(8):2690-2. Epub 2008 May 23 doi: 10.1093/ndt/gfn277. PMID: 18503011
Pitfalls in the diagnosis of immune thrombocytopenic purpura in children: 4 case reports.
Biner B, Devecioğlu O, Demir M
Clin Appl Thromb Hemost 2007 Jul;13(3):329-33. doi: 10.1177/1076029607302444. PMID: 17636197

Prognosis

Successful cochlear implantation in a patient with Epstein syndrome during long-term follow-up.
Mori A, Takeda H, Kobayashi M, Misawa T, Watanabe R, Abe S, Kumakawa K, Nishio S, Usami S, Yamasoba T
Auris Nasus Larynx 2022 Apr;49(2):308-312. Epub 2020 Sep 23 doi: 10.1016/j.anl.2020.09.008. PMID: 32980210
Epstein Syndrome.
Barrah S, Kheder R, Jebali H, Krid M, Smaoui W, Beji S, Hmida FB, Fatma LB, Rais L, Zouaghi MK
Saudi J Kidney Dis Transpl 2020 Jul-Aug;31(4):865-867. doi: 10.4103/1319-2442.292323. PMID: 32801250
Sporadic Epstein syndrome with macrothrombocytopenia, sensorineural hearing loss and renal failure.
Makino S, Kunishima S, Ikumi A, Awaguni H, Shinozuka J, Tanaka S, Maruyama R, Imashuku S
Pediatr Int 2015 Oct;57(5):977-81. Epub 2015 Sep 21 doi: 10.1111/ped.12736. PMID: 26387855
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
Epstein syndrome presenting as renal failure in young patients.
Yap DY, Tse KC, Chan TM, Lie AK
Ren Fail 2009;31(7):582-5. doi: 10.1080/08860220903033708. PMID: 19839854

Clinical prediction guides

A nationwide survey of MYH9-related disease in Japan.
Shirai Y, Miura K, Hamada R, Ishikura K, Kunishima S, Hattori M
Clin Exp Nephrol 2024 Jan;28(1):40-49. Epub 2023 Sep 21 doi: 10.1007/s10157-023-02404-3. PMID: 37733142
A case of cochlear implantation in a patient with Epstein syndrome.
Nabekura T, Nagano Y, Matsuda K, Tono T
Auris Nasus Larynx 2015 Apr;42(2):160-2. Epub 2014 Oct 5 doi: 10.1016/j.anl.2014.09.004. PMID: 25293679
Glycoproteins expression on platelet membrane in inherited macrothrombocytopenias.
Pérez-Pujol S, Lozano M, Escolar G, Díaz-Ricart M, Pujol-Moix N, Ordinas A
Thromb Res 2003;112(4):233-7. doi: 10.1016/j.thromres.2003.12.010. PMID: 14987917
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
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.
Toren A, Rozenfeld-Granot G, Rocca B, Epstein CJ, Amariglio N, Laghi F, Landolfi R, Brok-Simoni F, Carlsson LE, Rechavi G, Greinacher A
Blood 2000 Nov 15;96(10):3447-51. PMID: 11071640

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