S

 

Shwachman–Diamond sendromu

Kalıtsal - AR

2 fenotip

Gelişme geriliği

Pansitopeni

İnfeksiyon hastalıkları (sık)

Dişeti kanamaları

Gingivitis

Stomatitis

Myokard nekrozları

Bebeklerde solunum güçlüğü

Hepatomegali

Pankreatik lipomatozis (ekzokrin pankreas yetmezliği)

Yağlı dışkı

Nefrokalsinoz

Kondrodisplazi kökenli iskelet bulguları

Myelodisplazi

Monositoz ve/veya lenfositoz

Geçici trombositopeni atakları

AML riski

Hipotoni

Entellektüel gerilik (bazı hastalarda)

Otizm (bazı hastalarda)

 

  • Cipolli M, D'Orazio C, Delmarco A, et al. Shwachman's syndrome: pathomorphosis and long-term outcome. Journal of Pediatric Gastroenterology & Nutrition, 29: 265-272, 1999

  • Dror Y, Freedman MH. Shwachman-Diamond syndrome. British Journal of Haematology, 118: 701-713, 2002

  • Toiviainen-Salo S, Makitie O, Mannerkoski M, et al. Shwachman-Diamond syndrome is associated with structural brain alterations on MRI. American Journal of Medical Genetics A, 146A: 1558-1564, 2008

  • Dror Y, Donadieu J, Koglmeier J, Dodge J, Toiviainen-Salo S, Makitie O, Kerr E, Zeidler C, Shimamura A, Shah N, Cipolli M, Kuijpers T, Durie P, Rommens J, Siderius L, Liu JM. Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome. Annals of the New York Academy of Sciences, 1242:40–55, 2011

  • Donadieu J, Fenneteau O, Beaupain B, et al. Classification of and risk factors for hematologic complications in a French national cohort of 102 patients with Shwachman-Diamond syndrome. Haematologica, 97(9):1312–1319, 2012

  • Carapito R, Konantz M, Paillard C, et al. Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features. Journal of Clinical Investigation, 127: 4090-4103, 2017

  • Bellanne-Chantelot C, Schmaltz-Panneau B, Marty C, et al. Mutations in the SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond-like syndrome. Blood, 132: 1318-1331, 2018