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Enteropathic histopathological features may be associated with Shwachman–Diamond syndrome
  1. N Shah1,
  2. H Cambrook1,
  3. J Koglmeier1,
  4. C Mason1,
  5. P Ancliff1,
  6. K Lindley2,
  7. V V Smith2,
  8. M Bajaj-Elliott2,
  9. N J Sebire2
  1. 1Department of Gastroenterology and Haematology, Great Ormond Street Hospital and Institute of Child Health, London, UK
  2. 2Department of Histopathology, Great Ormond Street Hospital and Institute of Child Health, London, UK
  1. Correspondence to Professor N J Sebire, Department of Histopathology, Camelia Botnar Laboratories, Great Ormond Street Hospital, Great Ormond Street, London WC1N 3JH, UK; sebirn{at}gosh.nhs.uk

Abstract

Aim To review the gastrointestinal mucosal histological features of biopsies from children with Shwachman–Diamond syndrome (SDS) examined at a single specialist centre.

Methods Search of a clinical database was performed to identify SDS cases and their gastrointestinal biopsies were reviewed for morphological parameters such as crypt:villous ratio, crypt hyperplasia and abnormal inflammatory infiltrates. Histological sections were also immunostained with CD4, CD20 and HLA-DR to determine the nature of the inflammatory infiltrate.

Results 15 SDS cases were included, 7 (47%) of which showed morphologically normal duodenal villous architecture, whereas 8 (53%) showed varying degrees of enteropathic histological features ranging from villous blunting to partial villous atrophy and duodenitis. 11/15 (73%) showed some degree of duodenal inflammation, including increased lamina propria density of plasma cells, macrophages and eosinophils.

Conclusion Varying degrees of duodenal inflammatory enteropathic features are present in more than 50% of symptomatic children with SDS. This suggests that, in addition to pure pancreatic exocrine failure, an enteropathic component may contribute to symptoms in some cases, and be potentially responsive to appropriate therapy.

  • Shwachman-Diamond
  • pancreatic
  • enteropathy
  • inflammation

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Footnotes

  • Competing interests None.

  • Ethics approval This study was conducted with the approval of the GOSH LREC, R&D number 07SG31.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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