Shwachman-Diamond Syndrome: Diarrhea, no Longer Required?

被引：10

作者：

Andolina, Jeffrey R. ^{[1
]}

Morrison, Colleen B. ^{[2
]}

Thompson, Alexis A. ^{[3
,5
]}

Chaudhury, Sonali ^{[3
,5
]}

Mack, A. Kyle ^{[3
,5
]}

Proytcheva, Maria ^{[4
,5
]}

Corey, Seth J. ^{[3
,5
]}

机构：

[1] Univ Rochester, Med Ctr, Dept Pediat, Golisano Childrens Hosp, Rochester, NY 14642 USA

[2] Childrens Mem Hosp, Dept Pediat, South Bend, IN USA

[3] Northwestern Univ, Dept Pediat, Ann & Robert H Lurie Childrens Hosp Chicago, Chicago, IL 60611 USA

[4] Northwestern Univ, Dept Pathol, Ann & Robert H Lurie Childrens Hosp Chicago, Chicago, IL 60611 USA

[5] Lurie Comprehens Canc Ctr, Feinberg Sch Med, Chicago, IL USA

来源：

JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY | 2013年 / 35卷 / 06期

关键词：

Shwachman-Diamond syndrome; neutropenia; diarrhea; exocrine pancreatic insufficiency; STEM-CELL TRANSPLANTATION; MYELOID-LEUKEMIA; SBDS GENE; PHENOTYPE; NEUTROPENIA; EXPERIENCE; MUTATIONS; DIAGNOSIS; PROTEIN; DISEASE;

D O I：

10.1097/MPH.0b013e3182667c13

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Exocrine pancreatic insufficiency and diarrhea have been hallmarks in the diagnosis of Shwachman-Diamond syndrome (SDS). We report 2 cases of genetically confirmed SDS in patients who presented with an unusual phenotype. Patient #1 presented with pancytopenia without other system involvement, while patient #2 presented with severe neutropenia, anemia, and a bifid thumb. Neither patient had diarrhea or malabsorption. Both patients had the classic heterozygous mutations c183_184 TA>CT and c.258+2 T>C in the Shwachman-Bodian-Diamond syndrome gene. Incomplete phenotypes may be more common than previously recognized in bone marrow failure syndromes; gastrointestinal symptoms should not be considered a prerequisite for SDS.

引用

页码：486 / 489

页数：4

共 21 条

[1] The Shwachman-Diamond SBDS protein localizes to the nucleolus [J].

Austin, KM ;

Leary, RJ ;

Shimamura, A .

BLOOD, 2005, 106 (04) :1253-1258

[2] Reduced-intensity conditioning is effective and safe for transplantation of patients with Shwachman-Diamond syndrome [J].

Bhatla, D. ;

Davies, S. M. ;

Shenoy, S. ;

Harris, R. E. ;

Crockett, M. ;

Shoultz, L. ;

Smolarek, T. ;

Blessing, J. ;

Hansen, M. ;

Jodele, S. ;

Jordan, M. ;

Filipovich, A. H. ;

Mehta, P. A. .

BONE MARROW TRANSPLANTATION, 2008, 42 (03) :159-165

[3] Mutations in SBDS are associated with Shwachman-Diamond syndrome [J].

Boocock, GRB ;

Morrison, JA ;

Popovic, M ;

Richards, N ;

Ellis, L ;

Durie, PR ;

Rommens, JM .

NATURE GENETICS, 2003, 33 (01) :97-101

[4] Shwachman-Diamond Syndrome: A Review of the Clinical Presentation,, Molecular Pathogenesis, Diagnosis, and Treatment [J].

Burroughs, Lauri ;

Woolfrey, Ann ;

Shimamura, Akiko .

HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA, 2009, 23 (02) :233-+

[5] Haematopoietic stem cell transplantation for Shwachman-Diamond disease:: a study from the European Group for blood and marrow transplantation [J].

Cesaro, S ;

Oneto, R ;

Messina, C ;

Gibson, BE ;

Buzyn, A ;

Steward, C ;

Gluckman, E ;

Breddius, R ;

Boogaerts, M ;

Vermylen, C ;

Veys, P ;

Marsh, J ;

Badell, I ;

Michel, G ;

Güngör, T ;

Niethammer, D ;

Bordigoni, P ;

Oswald, C ;

Favre, C ;

Passweg, J ;

Dini, G .

BRITISH JOURNAL OF HAEMATOLOGY, 2005, 131 (02) :231-236

[6] Adult onset of acute myeloid leukaemia (M6) in patients with Shwachman-Diamond syndrome [J].

Dokal, I ;

Rule, S ;

Chen, F ;

Potter, M ;

Goldman, J .

BRITISH JOURNAL OF HAEMATOLOGY, 1997, 99 (01) :171-173

[7]

Donadieu J, 2005, HAEMATOLOGICA, V90, P45

[8] Hematopoietic stem cell transplantation for Shwachman-Diamond syndrome: experience of the French neutropenia registry [J].

Donadieu, J ;

Michel, G ;

Merlin, E ;

Bordigoni, P ;

Monteux, B ;

Beaupain, B ;

Leverger, G ;

Laporte, JP ;

Hermine, O ;

Buzyn, A ;

Bertrand, Y ;

Casanova, JL ;

Leblanc, T ;

Gluckman, E ;

Fischer, A ;

Stephan, JL .

BONE MARROW TRANSPLANTATION, 2005, 36 (09) :787-792

[9] Shwachman-Diamond syndrome [J].

Dror, Y .

PEDIATRIC BLOOD & CANCER, 2005, 45 (07) :892-901

[10] HAX-1: A multifunctional protein with emerging roles in human disease [J].

Fadeel, Bengt ;

Grzybowska, Ewa .

BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS, 2009, 1790 (10) :1139-1148

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