Endoscopic findings in patients with Shwachman–Diamond syndrome: A report from the North American Shwachman–Diamond syndrome registry
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Key Points
This study aims to characterize endoscopic findings in patients with genetically confirmed Shwachman-Diamond syndrome (SDS).
Retrospective registry study of 45 patients with biallelic SDS mutations
Analysis of clinical, laboratory, imaging, and endoscopic reports along with biopsy findings
Evaluation of 102 endoscopic procedures, focusing on indications and biopsy results
Most common procedure was esophagogastroduodenoscopy (58.8% of cases)
Leading indication for endoscopy was diarrhea and/or steatorrhea (23.6%)
Post-hematopoietic stem cell transplant biopsies showed diverse abnormalities, including inflammation and graft-versus-host disease-associated changes.
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Implication
Retrospective registry study characterizes endoscopic findings in Shwachman–Diamond syndrome, suggesting tailored evaluation improves diagnostics.