ABCA3 mutation and pulmonary hypertension:: A link with alveolar capillary dysplasia?

被引：10
|
作者：
Danhaive, Olivier [1 ]
Peca, Donatella [2 ]
Boldrini, Renata [3 ]
机构：
[1] Bambino Gesu Pediat Hosp, Dept Med & Surg Neonatol, Rome, Italy
[2] Bambino Gesu Pediat Hosp, Lab Neonatal Biol, Rome, Italy
[3] Bambino Gesu Pediat Hosp, Div Med Pathol, Rome, Italy
来源：
JOURNAL OF PEDIATRICS | 2008年 / 152卷 / 06期
关键词：
D O I：
10.1016/j.jpeds.2008.01.019
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
引用
收藏
页码：891 / 892
页数：2
相关论文
共 50 条
  • [41] Novel Mutation in ABCA3 Resulting in Fatal Congenital Surfactant Deficiency in Two Siblings
    Moore, Gregory P.
    Lines, Matthew A.
    Geraghty, Michael T.
    de Nanassy, Joseph
    Kovesi, Thomas
    AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE, 2014, 189 (06) : 750 - 752
  • [42] Alterations of the pulmonary surfactant system in pediatric patients with ABCA3 mutations.
    不详
    VIRCHOWS ARCHIV, 2005, 447 (02) : 153 - 153
  • [43] A large kindred of pulmonary fibrosis associated with a novel ABCA3 gene variant
    Campo, Ilaria
    Zorzetto, Michele
    Mariani, Francesca
    Kadija, Zamir
    Morbini, Patrizia
    Dore, Roberto
    Kaltenborn, Eva
    Frixel, Sabrina
    Zarbock, Ralf
    Liebisch, Gerhard
    Hegermann, Jan
    Wrede, Christoph
    Griese, Matthias
    Luisetti, Maurizio
    RESPIRATORY RESEARCH, 2014, 15
  • [44] A large kindred of pulmonary fibrosis associated with a novel ABCA3 gene variant
    Ilaria Campo
    Michele Zorzetto
    Francesca Mariani
    Zamir Kadija
    Patrizia Morbini
    Roberto Dore
    Eva Kaltenborn
    Sabrina Frixel
    Ralf Zarbock
    Gerhard Liebisch
    Jan Hegermann
    Christoph Wrede
    Matthias Griese
    Maurizio Luisetti
    Respiratory Research, 15
  • [45] Congenital misalignment of pulmonary veins with alveolar capillary dysplasia causing persistent neonatal pulmonary hypertension: Report of two affected siblings
    Gutierrez, C
    Rodriguez, A
    Palenzuela, S
    Forteza, C
    Rossello, JLD
    PEDIATRIC AND DEVELOPMENTAL PATHOLOGY, 2000, 3 (03) : 271 - 276
  • [46] Heterozygous ABCA3 mutation associated with non-fatal evolution of respiratory distress
    Yokota, Takuya
    Matsumura, Yoshihiro
    Ban, Nobuhiro
    Matsubayashi, Tadashi
    Inagaki, Nobuya
    EUROPEAN JOURNAL OF PEDIATRICS, 2008, 167 (06) : 691 - 693
  • [47] Heterozygous ABCA3 mutation associated with non-fatal evolution of respiratory distress
    Takuya Yokota
    Yoshihiro Matsumura
    Nobuhiro Ban
    Tadashi Matsubayashi
    Nobuya Inagaki
    European Journal of Pediatrics, 2008, 167 : 691 - 693
  • [48] Fatal respiratory disease due to a homozygous intronic ABCA3 mutation: A case report
    Pachajoa H.
    Ruiz-Botero F.
    Meza-Escobar L.E.
    Villota-Delgado V.A.
    Ballesteros A.
    Padilla I.
    Duarte D.
    Journal of Medical Case Reports, 10 (1)
  • [49] FAMILIAL PERSISTENT PULMONARY-HYPERTENSION IN 2 SIBLINGS WITH PHOCOMELIA AND ALVEOLAR CAPILLARY DYSPLASIA (ACD) - A NEW SYNDROME
    SIMONTON, SC
    CHRENKA, BA
    LABORATORY INVESTIGATION, 1993, 68 (01) : P9 - P9
  • [50] ABCA3 is a lamellar body membrane protein in human lung alveolar type II cells
    Yamano, G
    Funahashi, H
    Kawanami, O
    Zhao, LX
    Ban, N
    Uchida, Y
    Morohoshi, T
    Ogawa, J
    Shioda, S
    Inagaki, N
    FEBS LETTERS, 2001, 508 (02) : 221 - 225
12345