Endoscopic findings in patients with Shwachman-Diamond syndrome: A report from the North American Shwachman-Diamond syndrome registry.
Smart use of endoscopy in Shwachman-Diamond syndrome—based on symptoms, not routine screening—guides doctors toward patients who truly need it.
In 45 patients with genetically confirmed SDS from the North American registry, 102 endoscopic procedures revealed heterogeneous GI findings; abnormal biopsy results were most frequent in patients presenting with dysphagia/dyspepsia or GI bleeding and associated with elevated CRP and abnormal hepatic enzymes. Post-HSCT biopsies showed substantially more abnormalities including GVHD, supporting targeted rather than routine endoscopy in asymptomatic SDS patients and improving clinical decision guidance for this rare inherited bone marrow failure disorder.
What the study was
- Study design
- Retrospective registry study
- Population
- 45 patients with genetically confirmed Shwachman-Diamond syndrome (biallelic SBDS mutations) from the North American SDS Registry; 102 endoscopic procedures analyzed
- Sample size
- 45
- Category
- Diagnostics
- Maturity
- Exploratory
- Journal
- JPGN Reports
Why it surfaced
First systematic characterization of endoscopic findings in SDS from a registry study; provides clinical guidance for a rare inherited bone marrow failure disorder with limited literature on GI manifestations.
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