Naslov
Autoimmune Pulmonary Alveolar Proteinosis (PAP) in a pediatric patient-case report

Autori
Ferenčić, Željko ; Navratil, Marta ; Petković, Giorgie ; Erceg, Damir ; Turkalj, Mirjana.

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Skup
ISABS conference on Forensic, Anthropologic and Medical Genetics and Mayo Clinic Lectures in Translation Medicine

Mjesto i datum
Split, Hrvatska, 24.06.2013. - 28.06.2013

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
pulmonarna aleveolarna proteinoza; djeca; autoimuna bolest; transplantacija pluća
(Pulmonary alveolar proteinosis; children; autoimmune disease; Lung transplantation)

Sažetak
Pulmonary alveolar proteinosis, (PAP) is a rare disease of unknown etiology, characterized by accumulation of lipoproteinaceous material within alveoli. The prognosis is highly variable, and for over three decades the pathophysiology and treatment of this disease remained a mystery. With recent developments in molecular genetics, our understanding of the pathogenesis of PAP has improved significantly.Four forms of PAP are recognised in children: congenital, acquired, secondary and idiopathic. In adults, and occasionally in older children and adolescents, PAP is usually an autoimmune disease ; antibodies to granulocyte macrophage colony-stimulating factor (anti-GM-CSF) are present in 90 percent of cases. Autoimmune PAP with anti-GM-CSF antibodies has been reported in only a few children, who presented in late childhood or adolescence. Thus, unlike adults with PAP, it appears that the majority of infants and children with PAP do not have the autoimmune form of the disease. As an example, in a study of 15 children with PAP, none had anti-GM-CSF antibodies in the serum, and only one had anti-GM-CSF antibodies in bronchoalveolar lavage fluid. We present a rare case of autoimmune PAP in a 10-year old male patient, diagnosed by HRCT, lung biopsy and lab analyses (positive anti- GM-CSF antibodies in serum). Patient was treated with corticosteroids, hidrochloroquine, GM-CSF and supportive therapy. Lung transplantation was performed one and half year after diagnosis.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

POVEZANOST RADA