title: Natural history of five children with surfactant protein C mutations and interstitial lung disease.
abstract: Interstitial lung diseases in infants and children are uncommon and may be caused by specific inborn errors of surfactant metabolism. Five children with open lung biopsy diagnosed interstitial lung disease were followed (mean of 27.2 years) and evaluated for surfactant protein gene mutations. Four of the children were originally diagnosed as desquamative interstitial pneumonitis and one as chronic interstitial pneumonitis. All had good response to chloroquine or hydroxychloroquine treatment for periods of 7-38 months. Lung function tests, incremental exercise tests, and rentgenological studies were performed in the children. Surfactant protein gene mutations were searched in all the patients and in part of their families. Three of the patients, aged now 32, 29, and 37 years, feel well and have normal lung function, while two of the patients, both females, aged 28 and 37 years, conduct normal activities of daily living, have healthy children but have clinical, physiological and rentgenological evidence of restrictive lung disease. All five patients were found to have surfactant protein C gene (SFTPC) mutations, three of them with the most common mutation (p.I73T) and the other two with new mutations of surfactant protein C gene (p.I38F and p.V39L). We conclude that detection of surfactant protein mutations should be attempted in all children presenting with interstitial lung disease. Furthermore, treatment with hydroxychloroquine should be considered in children with SFTPC mutations. Prospective evaluation of hydroxychloroquine therapy in a greater number of patients is needed.
authors.affiliation: Institute of Pulmonology, Hadassah University Hospital Ein-Kerem, Jerusalem, Israel.
authors.forename: Avraham
authors.initials: A
authors.lastname: Avital
authors.forename: Avigdor
authors.initials: A
authors.lastname: Hevroni
authors.forename: Simon
authors.initials: S
authors.lastname: Godfrey
authors.forename: Shlomo
authors.initials: S
authors.lastname: Cohen
authors.forename: Channa
authors.initials: C
authors.lastname: Maayan
authors.forename: Samir
authors.initials: S
authors.lastname: Nusair
authors.forename: Lawrence M
authors.initials: LM
authors.lastname: Nogee
authors.forename: Chaim
authors.initials: C
authors.lastname: Springer
mesh_terms: D000293:Adolescent; D000328:Adult; D001706:Biopsy; D002648:Child; D005260:Female; D006801:Humans; D006886:Hydroxychloroquine / Q000627:therapeutic use; D008168:Lung / Q000187:drug effects / Q000473:pathology / Q000503:physiopathology; D017563:Lung Diseases, Interstitial / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D008297:Male; D009154:Mutation; D037721:Pulmonary Surfactant-Associated Protein C / Q000235:genetics*; D012129:Respiratory Function Tests
chemical_list: D037721:Pulmonary Surfactant-Associated Protein C; D006886:Hydroxychloroquine
keywords: ILD; SFTPC; chloroquine; pediatric