Beyond Cystic Fibrosis: Recognising Shwachman‐Diamond Syndrome in the Respiratory Clinic
Freda Yang, Ladina Weitnauer, Imogen Felton, Nicholas J Simmonds · 2025
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Description
Freda Yang and three co-authors report a girl whose illness looked like cystic fibrosis but proved to be a rarer syndrome, in a 2025 case report. Both conditions cause repeat chest infections and poor pancreas function. The girl, aged six, had a wet cough, fatty stools, and repeat infections. Early tests gave mixed signals.
Her sweat test was borderline, and the cystic fibrosis gene panel was negative. Other signs included odd liver values, faulty white cells, and bone anomalies. Deeper gene analysis found two changes in a gene tied to the rarer syndrome. One change was known to cause disease, and the other was new. Follow-up over forty-two years showed ongoing low white cell counts and chest infections. Milder forms can reach adulthood, the authors note.
Catalog record
| CREATOR | Freda Yang, Ladina Weitnauer, Imogen Felton, Nicholas J Simmonds |
|---|---|
| YEAR | 2025 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 18 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |