Case Report of Cystic Fibrosis with 18q Deletion
Author Information
Author(s): Spinelli Elide, Timpano Silviana, Fogazzi Annalisa, Dester Silvia, Milianti Susanna, Padoan Rita
Primary Institution: Centro Regionale di Supporto per la Fibrosi Cistica, Ospedale dei Bambini, AO Spedali Civili, Brescia, Italy
Hypothesis
Can co-existing conditions like 18q deletion syndrome complicate the treatment of cystic fibrosis in infants?
Conclusion
The combination of innovative therapies improved the clinical condition of a cystic fibrosis infant with an 18q deletion.
Supporting Evidence
- The infant was diagnosed with cystic fibrosis through neonatal screening.
- Co-morbidities included severe muscular hypotonia and congenital cardiopathy.
- Use of a gastrostomy device and Ez-PAP improved the infant's growth and reduced hospitalizations.
Takeaway
This study talks about a baby with cystic fibrosis who also had a special chromosome problem, and how doctors helped him get better using new treatments.
Methodology
The case was managed with a multi-disciplinary approach including nutritional support and innovative respiratory therapies.
Limitations
The study is based on a single case, limiting generalizability.
Participant Demographics
Male infant, aged 2, born to non-consanguineous Albanian parents.
Digital Object Identifier (DOI)
Want to read the original?
Access the complete publication on the publisher's website