Lung Transplantation for Primary Ciliary Dyskinesia and Kartagener Syndrome: A Multicenter Study

Abstract

Primary ciliary dyskinesia, with or without situs abnormalities, is a rare lung disease that can lead to an irreversible lung damage that may progress to respiratory failure. Lung transplant can be considered in end-stage disease. This study describes the outcomes of the largest lung transplant population for PCD and for PCD with situs abnormalities, also identified as Kartagener's syndrome. Retrospectively collected data of 36 patients who underwent lung transplantation for PCD from 1995 to 2020 with or without SA as part of the European Society of Thoracic Surgeons Lung Transplantation Working Group on rare diseases. Primary outcomes of interest included survival and freedom from chronic lung allograft dysfunction. Secondary outcomes included primary graft dysfunction within 72 h and the rate of rejection ≥A2 within the first year. Among PCD recipients with and without SA, the mean overall and CLAD-free survival were 5.9 and 5.2 years with no significant differences between groups in terms of time to CLAD (HR: 0.92, 95% CI: 0.27-3.14, p = 0.894) or mortality (HR: 0.45, 95% CI: 0.14-1.43, p = 0.178). Postoperative rates of PGD were comparable between groups; rejection grades ≥A2 on first biopsy or within the first year was more common in patients with SA. This study provides a valuable insight on international practices of lung transplantation in patients with PCD. Lung transplantation is an acceptable treatment option in this population.

Keywords: chronic lung allograft dysfunction; lung transplant; outcomes; primary graft dysfunction; rare disease.

FIGURE 1

Overall survival (A) and freedom from chronic lung allograft dysfunction (B). CLAD, chronic lung allograft dysfunction.

FIGURE 2

Overall survival (A) and freedom from chronic lung allograft dysfunction (B) by presence of situs abnormalities. PCD, primary ciliary diskinesia; SA, situs abnormalities; CLAD, chronic lung allograft dysfunction.