Case report: A case of SLC26A4 mutations causing pendred syndrome and non-cystic fibrosis bronchiectasis

Area of Science:

• Genetics and Molecular Biology
• Respiratory Medicine
• Pediatrics

Background:

• The SLC26A4 gene encodes pendrin, a transmembrane protein crucial for ion transport (chloride, iodide, bicarbonate).
• Pendred syndrome is associated with mutations altering pendrin structure and function.
• In vitro studies link SLC26A4 mutations to airway surface fluid (ASL) acidification and impaired airway defense.

Observation:

• This study presents the first case report of a child with Pendred syndrome and non-cystic fibrosis bronchiectasis.
• The child's condition is potentially linked to mutations in the SLC26A4 gene.
• The observed bronchiectasis suggests a potential clinical manifestation of SLC26A4-related disorders.

Findings:

• SLC26A4 gene mutations may lead to airway surface fluid (ASL) abnormalities, including increased thickness.
• These ASL changes, combined with infection, can result in chronic inflammation and airway wall destruction.
• The case report establishes a possible etiological connection between SLC26A4 mutations and bronchiectasis.

Implications:

• This finding expands the known clinical spectrum of SLC26A4 gene mutations.
• Clinicians should consider bronchiectasis in children diagnosed with Pendred syndrome or presenting with SLC26A4 mutations.
• Further research is warranted to confirm the causal relationship and understand the underlying mechanisms linking SLC26A4 mutations to bronchiectasis.