ArticleFrontiers in genetics2025
Clinical characteristics and genetic mutation analysis in 18 pediatric patients with Shwachman-Diamond syndrome.
Article in Frontiers in genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Purpose: To investigate the clinical features and genetic mutation spectrum of 18 children with Shwachman-Diamond syndrome (SDS). Methods: Data from 18 children with SDS at Shandong University Affiliated Children's Hospital (Ji'nan Children's Hospital) between April 2016 and June 2024 were retrospectively analyzed. Variant sites were confirmed by Sanger sequencing in family lines. Results: Patients exhibited complex and diverse clinical symptoms, often involving multiple systems. The clinical features of this cohort included (1) early onset (median age: 1.5 months), diarrhea, trypsin reduction, neutropenia, and growth retardation and (2) high incidence of pancreatic imaging abnormalities, bone marrow hypoplasia, developmental malformations, and neurocognitive disorders. All patients had homozygous or compound heterozygous Conclusion: Patients with SDS exhibit clinical heterogeneity, and this study enriches the
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