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The research aims to characterize clinical features and outcomes of liver disease in patients with Shwachman-Diamond syndrome.

December 8, 2025BloodOpen Access

Liver disease in shwachman-diamond syndrome: A report from the shwachman-diamond syndrome registry

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The research aims to characterize clinical features and outcomes of liver disease in patients with Shwachman-Diamond syndrome.
Retrospective study of 246 patients with biallelic SBDS mutations in the North American SDS Registry.
Analysis of clinical, biochemical, imaging, and histopathologic data associated with liver injury.
Persistent liver injury (PLI) defined by elevated AST and ALT levels on multiple occasions.
Of 246 patients, 94 (55%) met criteria for persistent liver injury.
Median age of PLI onset was 1.0 years, persisting for a median of 6.0 years.
Liver biopsies revealed inflammation in 69.5% and fibrosis in 65.2% of cases.

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Retrospective analysis reports liver disease in Shwachman-Diamond syndrome patients, suggesting complex management needs for childhood and adulthood.

Kim et al. (2025) studied this question.

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Retrospective analysis reports liver disease in Shwachman-Diamond syndrome patients, suggesting complex management needs for childhood and adulthood.