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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

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
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
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

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
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
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
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
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

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
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
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
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
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

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
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
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
Biner B, Devecioğlu O, Demir M
Clin Appl Thromb Hemost 2007 Jul;13(3):329-33. doi: 10.1177/1076029607302444. PMID: 17636197

Prognosis

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
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
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
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
Yap DY, Tse KC, Chan TM, Lie AK
Ren Fail 2009;31(7):582-5. doi: 10.1080/08860220903033708. PMID: 19839854

Clinical prediction guides

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
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
Hertz JM
Dan Med Bull 2009 Aug;56(3):105-52. PMID: 19728970
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
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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