What does this research mean for the field?

Liver disease, particularly chronic hepatitis, is highly prevalent (55%) in patients with Shwachman-Diamond syndrome, typically presenting in early childhood and persisting for years, while adult patients frequently exhibit steatosis and fibrosis. Novelty: ClaimNovelty.INCREMENTAL. Consensus alignment: ConsensusAlignment.NEUTRAL.

What question did this study set out to answer?

To characterize the prevalence, features, and outcomes of liver injury in Shwachman-Diamond syndrome.

April 1, 2026Journal of Pediatric Gastroenterology and NutritionOpen Access

Liver disease in Shwachman‐Diamond syndrome: A comprehensive characterization across the age spectrum

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To characterize the prevalence, features, and outcomes of liver injury in Shwachman-Diamond syndrome.
Conducted a retrospective registry study involving 171 patients with SBDS mutations.
Extracted clinical, laboratory, imaging, elastography, and biopsy data from medical records.
Performed analyses of ultrasound and elastography findings to assess liver conditions.
Chronic hepatitis was found in 55% of patients, with a median age at onset of 1 year.
71% of patients at presentation had elevated alanine aminotransferase (ALT) levels.
Biopsies in the pediatric cohort showed high rates of hepatitis and fibrosis, while adults displayed steatosis with fibrosis or cirrhosis.

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Implication

Retrospective registry study reveals chronic liver injury prevalence in Shwachman-Diamond syndrome, highlighting treatment needs.

Cite This Study

Koo et al. (2026) studied this question.

synapsesocial.com/papers/69cd7a1b5652765b073a6ea1 https://doi.org/10.1002/jpn3.70430

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Liver disease in Shwachman‐Diamond syndrome: A comprehensive characterization across the age spectrum

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Discussion

Implication

Cite This Study

Liver disease in Shwachman‐Diamond syndrome: A comprehensive characterization across the age spectrum

Key Points

Discussion

Implication

Cite This Study

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