Whole lung lavage and GM-CSF use for pulmonary alveolar proteinosis in an infant with lysinuric protein intolerance: a case report

Abstract

Abstract Background Lysinuric protein intolerance (LPI) is a multi-organ metabolic disorder characterized by the imbalance in absorption and excretion of cationic amino acids like lysine, ornithine and arginine. Infants with LPI typically present with recurrent vomiting, poor growth, interstitial lung disease or renal impairment. The early onset of pulmonary alveolar proteinosis (PAP) has been reported to be associated with a severe form of LPI. Treatment of PAP most commonly consists of whole-lung lavage (WLL) and granulocyte-macrophage colony stimulating factor (GM-CSF) administration. Inhaled GM-CSF has not been extensively studied in infants. Case presentation: We describe the case of an 8-month-old infant presenting with respiratory failure due to LPI associated with PAP, who was twice treated with WLL; firstly, while on veno-venous ECMO assistance and then by the use of a selective bronchial blocker. After the two treatments with WLL, she was weaned from respiratory support while on initially subcutaneous, then on inhaled GM-CSF therapy. Conclusions This case supports the notion that inhaled GM-CSF may be used in the treatment of PAP and represents a potentially safe and effective therapeutic option for the chronic care of patients with LPI and PAP after their respiratory stabilization with the use of WLL.