Article
Interstitial lung disease in two brothers with novel compound heterozygous ABCA3 mutations.
European journal of pediatrics - 1 Jul 2013
Kitazawa Hiroshi, Moriya Kunihiko, Niizuma Hidetaka, Kawano Kengo, Saito-Nanjo Yuka, Uchiyama Toru, Rikiishi Takeshi, Sasahara Yoji, Sakamoto Osamu, Setoguchi Yasuhiro, Kure Shigeo
Abstract excerpt
Mutations in genes critical for surfactant metabolism, including surfactant protein C (SP-C) and ABCA3, are well-recognized causes of interstitial lung disease. Recessive mutations in ABCA3 were first attributed to fatal respiratory failure in full-term neonates, but they are also increasingly being recognized as a cause of respiratory disorders with less severe phenotypes in older children and also adults. Here,...
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