Beyond Cystic Fibrosis: Recognising Shwachman-Diamond Syndrome in the Respiratory Clinic
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View abstract on PubMed
Summary
This summary is machine-generated.Shwachman-Diamond Syndrome (SDS) can mimic cystic fibrosis (CF) symptoms, complicating diagnosis. Genomic analysis confirmed SDS in a child with CF-like features and negative CFTR testing, highlighting the need for broader genetic evaluation.
Area Of Science
- Medical Genetics
- Pediatric Pulmonology
- Hematology
Background
- Cystic fibrosis (CF) and Shwachman-Diamond Syndrome (SDS) present with overlapping clinical features, such as respiratory and pancreatic dysfunction.
- Diagnostic challenges arise due to similar symptoms, necessitating advanced genetic testing for accurate differentiation.
Purpose Of The Study
- To report a case of a pediatric patient with CF-like symptoms.
- To highlight the diagnostic utility of genomic analysis in identifying SDS.
- To emphasize the importance of considering SDS in atypical CF presentations.
Main Methods
- Case report of a six-year-old girl with productive cough, steatorrhea, and recurrent infections.
- Initial investigations included liver function tests, immunoreactive trypsin, neutrophil function assays, and skeletal imaging.
- Sweat testing and CFTR genetic panel were performed, followed by SBDS gene sequencing for genomic analysis.
Main Results
- Genomic analysis revealed compound heterozygous mutations in the SBDS gene (c.258+2T>C and c.284T>A), confirming a diagnosis of Shwachman-Diamond Syndrome.
- The patient experienced a 42-year follow-up with intermittent neutropenia, recurrent respiratory infections, and pregnancy complications.
- The novel c.284T>A variant was identified alongside a known pathogenic variant.
Conclusions
- This case underscores the critical role of SBDS gene analysis in diagnosing SDS, especially in patients with CF-like presentations and equivocal CF testing.
- Milder SDS phenotypes allow for survival into adulthood, with long-term management challenges.
- Further research is required to establish precise genotype-phenotype correlations for improved management strategies.
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