Management of emergency care, Rare disease, Adverse events of drug therapy , Educational Purpose (only if useful for a systematic review or synthesis)
Mirjana Trukalj, Marija Perica, Željko Ferenčić, Damir Erceg, Marta Navratil, Gzim Redžepi, Boro Nogalo
Department of Pediatric Allergology and Pulmonology, Children’s Hospital Srebrnjak, Zagreb, Croatia
Am J Case Rep 2016; 17:641-645
Pulmonary alveolar proteinosis (PAP) is a rare condition characterized by the intra-alveolar accumulation of surfactant-derived material, which impairs gas exchange and results in respiratory insufficiency. Two major subtypes of PAP are autoimmune and non-autoimmune PAP. The diagnosis relies on clinical presentation, ground glass opacities on CT scan, bronchoscopy with PAS stain of BAL fluid (BALF), lung biopsy with PAS-positive material in the alveoli, and the presence of anti GM-CSF antibodies in serum or BALF for an autoimmune subtype. The therapeutic approach to pediatric cases varies according to age and the general clinical state of the child; however, whole lung lavage (WLL) and inhaled or subcutaneous GM-CSF are generally first-line therapy.
CASE REPORT: We report a unique case of an autoimmune type of PAP in a 12-year-old boy, who underwent successful bilateral lung transplantation after inefficacious treatment with GM-CSF, and who developed post-transplant lymphoproliferative disease (PTLD) and was successfully treated with a chemotherapeutic protocol.
CONCLUSIONS: Although lung transplantation is a rarely used therapeutic approach for patients with an autoimmune subtype of PAP, in cases of inefficacious treatment with other modalities, lung transplantation should be considered.
Keywords: Biopsy, Autoimmune Diseases, Bronchoalveolar Lavage - methods, Bronchoscopy, Child, Preschool, Granulocyte-Macrophage Colony-Stimulating Factor - therapeutic use, Humans, Lung - diagnostic imaging, Male, Pulmonary Alveolar Proteinosis - therapy, Tomography, X-Ray Computed