Successful lung transplantation in genetic MARS-related alveolar proteinosis/lung fibrosis without recurrence under methionine supplementation:medium-term outcome in 4 cases.

Pulmonary alveolar proteinosis (PAP) results from the accumulation of lipoproteinaceous material in the alveoli and alveolar macrophages, and can be associated with pulmonary fibrosis (PAP-PF), with a need for lung transplantation (LTx). Causes of PAP are autoimmune (90-95%), secondary (5%), or hereditary (<1%). Patients with hereditary PAP are generally not considered for isolated LTx, due to the high probability of recurrence after LTx, and only a challenging scenario with sequential LTx followed by HSCT was reported as successful. Recently, a new genetic cause of PAP linked to mutations in the methionyl-tRNA synthetase (MARS) gene has been reported, with a highly variable clinical presentation. Since clinical correction of the defective MARS activity with methionine supplementation has been reported in non-transplanted children, we reassessed the feasibility of LTx for candidates with MARS-related PAP/fibrosis. We report 3 cases of LTx performed for MARS-related PAP-PF without recurrence under methionine supplementation, whereas another 4

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