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December 8, 2025BloodOpen Access

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

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Authors

JKJohn KimNorthwestern University LSL SchwarzInstitute of Science and Technology Austria EKElizabeth KornBoston Children's Hospital

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Implication

Retrospective study identified persistent liver injury in 55% of patients with shwachman-diamond syndrome, highlighting the need for comprehensive care.

Key Points

Persistent liver injury was identified in 55% of patients, often starting in early childhood with prolonged duration.
Logistic regression analysis showed that younger age at SDS diagnosis reduced odds of persistent liver injury significantly.
Retrospective study evaluated clinical features, imaging data, and liver biopsies in 246 patients, revealing common subclinical liver issues.
Age-conscious and multidisciplinary care is essential for managing liver disease in shwachman-diamond syndrome patients.

Cite This Study

Kim et al. (2025) studied this question.

synapsesocial.com/papers/69362f7d4fa91c937236e4b4 https://doi.org/10.1182/blood-2025-1436

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Implication

Retrospective study identified persistent liver injury in 55% of patients with shwachman-diamond syndrome, highlighting the need for comprehensive care.

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

Discussion

Member takes

Implication

Key Points

Cite This Study

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

Discussion

Member takes

Implication

Key Points

Cite This Study

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