Enteropathic histopathological features may be associated with Shwachman-Diamond syndrome.
OBJECTIVE
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.


CONCLUSIONS
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.
Shah
N
N
Department of Gastroenterology and Haematology, Great Ormond Street Hospital and Institute of Child Health, London, UK.
Cambrook
H
H
Koglmeier
J
J
Mason
C
C
Ancliff
P
P
Lindley
K
K
Smith
V V
VV
Bajaj-Elliott
M
M
Sebire
N J
NJ
D001284:Atrophy; D001706:Biopsy; D001855:Bone Marrow Diseases / Q000276:immunology / Q000473:pathology; D015496:CD4-Positive T-Lymphocytes / Q000276:immunology; D002648:Child; D004382:Duodenitis / Q000276:immunology / Q000473:pathology; D004384:Duodenoscopy; D004386:Duodenum / Q000276:immunology / Q000473:pathology*; D010188:Exocrine Pancreatic Insufficiency / Q000276:immunology / Q000473:pathology; D006684:HLA-DR Antigens / Q000378:metabolism; D006801:Humans; D018928:Immunity, Mucosal; D007413:Intestinal Mucosa / Q000276:immunology / Q000473:pathology; D008068:Lipomatosis; D000081003:Shwachman-Diamond Syndrome
D006684:HLA-DR Antigens