Shwachman-diamond syndrome: Diarrhea, no longer required?

Jeffrey R. Andolina*, Colleen B. Morrison, Alexis A Thompson, Sonali Chaudhury, Astrid Kyle Mack, Maria Proytcheva, Seth J. Corey

*Corresponding author for this work

Research output: Contribution to journalArticle

7 Citations (Scopus)

Abstract

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.

Original languageEnglish (US)
Pages (from-to)486-489
Number of pages4
JournalJournal of pediatric hematology/oncology
Volume35
Issue number6
DOIs
StatePublished - Aug 1 2013

Fingerprint

Diarrhea
Exocrine Pancreatic Insufficiency
Phenotype
Pancytopenia
Thumb
Neutropenia
Anemia
Shwachman syndrome
Mutation
Genes

Keywords

  • Shwachman-Diamond syndrome
  • diarrhea
  • exocrine pancreatic insufficiency
  • neutropenia

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Hematology
  • Oncology

Cite this

Andolina, Jeffrey R. ; Morrison, Colleen B. ; Thompson, Alexis A ; Chaudhury, Sonali ; Mack, Astrid Kyle ; Proytcheva, Maria ; Corey, Seth J. / Shwachman-diamond syndrome : Diarrhea, no longer required?. In: Journal of pediatric hematology/oncology. 2013 ; Vol. 35, No. 6. pp. 486-489.
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Shwachman-diamond syndrome : Diarrhea, no longer required? / Andolina, Jeffrey R.; Morrison, Colleen B.; Thompson, Alexis A; Chaudhury, Sonali; Mack, Astrid Kyle; Proytcheva, Maria; Corey, Seth J.

In: Journal of pediatric hematology/oncology, Vol. 35, No. 6, 01.08.2013, p. 486-489.

Research output: Contribution to journalArticle

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