title: Congenital alveolar proteinosis.
abstract: Pulmonary alveolar proteinosis is recently described as a rare cause of lung dysfunction and respiratory distress in term neonates. In several cases, a deficiency or insufficiency of surfactant protein B SP-B has been caused by a frame shift mutation in the gene encoding SP-B. Three siblings with congenital pulmonary alveolar proteinosis showed clinical and radiological evidence. Histopathological and immunohistochemical studies in the last sibling revealed deficiency of SP-B, one of the group of 3 specific lipoproteins that reduce the surface tension between air and liquid interface within pulmonary alveoli, suggesting a gene associated illness.
authors.affiliation: Department of Pediatrics, King Faisal Specialist Hospital and Research Centre, Riyadh, Kingdom of Saudi Arabia. hakiem@kfshrc.edu.sa
authors.forename: Abdulhakeim K
authors.initials: AK
authors.lastname: Kattan
authors.forename: Prakash S
authors.initials: PS
authors.lastname: Bulagannawar
authors.forename: Iftikhar H
authors.initials: IH
authors.lastname: Malik
mesh_terms: D001707:Biopsy, Needle; D018450:Disease Progression; D017809:Fatal Outcome; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007150:Immunohistochemistry; D007231:Infant, Newborn; D010375:Pedigree; D011649:Pulmonary Alveolar Proteinosis / Q000151:congenital* / Q000235:genetics* / Q000473:pathology; D037661:Pulmonary Surfactant-Associated Proteins / Q000235:genetics / Q000378:metabolism*; D012127:Respiratory Distress Syndrome, Newborn / Q000175:diagnosis* / Q000209:etiology; D012529:Saudi Arabia; D012720:Severity of Illness Index; D035781:Siblings
chemical_list: D037661:Pulmonary Surfactant-Associated Proteins