Lung transplantation for Williams-Campbell syndrome

Area of Science:

• Pulmonology
• Genetics
• Transplantation Surgery

Background:

• Williams-Campbell syndrome is a rare genetic disorder characterized by cartilage deficiency in subsegmental bronchi.
• This deficiency typically leads to distal airway collapse and bronchiectasis, causing end-stage lung disease.

Observation:

• This study reports the first lung transplantation in a patient with end-stage lung disease due to Williams-Campbell syndrome.
• The patient developed bronchomalacia of the mainstem bronchi post-transplantation, despite no prior proximal airway collapse.

Findings:

• Autopsy revealed cartilage deficiency in both proximal and distal airways, indicating the syndrome's broader impact than previously understood.
• The patient suffered recurrent pulmonary infections and died from pneumonia one year post-transplant.

Implications:

• The development of bronchomalacia may be linked to a combination of intrinsic cartilage deficiency and post-transplant airway ischemia.
• Bilateral sequential lung transplantation might not be a suitable treatment for Williams-Campbell syndrome patients due to potential proximal airway complications.