Outcomes of Lung Transplantation for Infants and Children with Genetic Disorders of Surfactant Metabolism

Weaver, 2001, Function of surfactant proteins B and C, Annu Rev Physiol, 63, 555, 10.1146/annurev.physiol.63.1.555 Ban, 2007, ABCA3 as a lipid transporter in pulmonary surfactant biogenesis, J Biol Chem, 282, 9628, 10.1074/jbc.M611767200 Ikeda, 1995, Gene structure and expression of human thyroid transcription factor-1 in respiratory epithelial cells, J Biol Chem, 270, 8108, 10.1074/jbc.270.14.8108 Garmany, 2008, Population and disease-based prevalence of the common mutations associated with surfactant deficiency, Pediatr Res, 63, 645, 10.1203/PDR.0b013e31816fdbeb Nogee, 1993, Brief report: deficiency of pulmonary surfactant protein B in congenital alveolar proteinosis, N Engl J Med, 328, 406, 10.1056/NEJM199302113280606 Bullard, 2005, ABCA3 mutations associated with pediatric interstitial lung disease, Am J Respir Crit Care Med, 172, 1026, 10.1164/rccm.200503-504OC Cole, 2000, Population- based estimates of surfactant protein B deficiency, Pediatrics, 105, 538, 10.1542/peds.105.3.538 Hamvas, 1995, Pathophysiology and treatment of surfactant protein-B deficiency, Biol Neonate, 67, 18, 10.1159/000244204 Hamvas, 2004, Progressive lung disease and surfactant dysfunction with a deletion in surfactant protein C gene, Am J Respir Cell Mol Biol, 30, 771, 10.1165/rcmb.2003-0323OC Nogee, 2001, A mutation in the surfactant protein C gene associated with familial interstitial lung disease, N Engl J Med, 344, 573, 10.1056/NEJM200102223440805 Poterjoy, 2010, Neonatal respiratory failure due to a novel mutation in the surfactant protein C gene, J Perinatol, 30, 151, 10.1038/jp.2009.97 Shulenin, 2004, ABCA3 gene mutations in newborns with fatal surfactant deficiency, N Engl J Med, 350, 1296, 10.1056/NEJMoa032178 Wambach, 2012, Single ABCA3 mutations increase risk for neonatal respiratory distress syndrome, Pediatrics, 130, e1575, 10.1542/peds.2012-0918 Devriendt, 1998, Deletion of thyroid transcription factor-1 gene in an infant with neonatal thyroid dysfunction and respiratory failure, N Engl J Med, 338, 1317, 10.1056/NEJM199804303381817 Krude, 2002, Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency, J Clin Invest, 109, 475, 10.1172/JCI0214341 Hamvas, 2013, Heterogeneous pulmonary phenotypes associated with mutations in the thyroid transcription factor gene NKX2-1, Chest, 144, 794, 10.1378/chest.12-2502 Hayes, 2012, ABCA3 transporter deficiency, Am J Respir Crit Care Med, 186, 807, 10.1164/ajrccm.186.8.807 Rosen, 2005, Hydroxychloroquine and surfactant protein C deficiency, N Engl J Med, 352, 207, 10.1056/NEJM200501133520223 van Hoorn, 2014, Successful weaning from mechanical ventilation in a patient with surfactant protein C deficiency presenting with severe neonatal respiratory distress, BMJ Case Rep, 10.1136/bcr-2013-203053 Kroner, 2015, Genotype alone does not predict the clinical course of SFTPC deficiency in paediatric patients, Eur Respir J, 46, 197, 10.1183/09031936.00129414 Rabach, 2013, Is treatment with hydroxychloroquine effective in surfactant protein C deficiency?, Arch Bronconeumol, 49, 213, 10.1016/j.arbres.2012.08.005 Liptzin, 2015, Chronic ventilation in infants with surfactant protein C mutations: an alternative to lung transplantation, Am J Respir Crit Care Med, 191, 1338, 10.1164/rccm.201411-1955LE Huddleston, 1999, Lung transplantation in very young infants, J Thorac Cardiovasc Surg, 118, 796, 10.1016/S0022-5223(99)70048-6 Dharnidharka, 2015, Lack of significant improvements in long-term allograft survival in pediatric solid organ transplantation: a US national registry analysis, Pediatr Transplant, 19, 477, 10.1111/petr.12465 Kim, 2014, Long-term outcomes of children after solid organ transplantation, Clinics, 69, 28, 10.6061/clinics/2014(Sup01)06 Kurland, 2013, An official American Thoracic Society clinical practice guideline: classification, evaluation, and management of childhood interstitial lung disease in infancy, Am J Respir Crit Care Med, 188, 376, 10.1164/rccm.201305-0923ST Faro, 2008, Lung transplantation for inherited disorders of surfactant metabolism, Neoreviews, 9, 468, 10.1542/neo.9-10-e468 Stewart, 2007, Revision of the 1996 working formulation for the standardization of nomenclature in the diagnosis of lung rejection, J Heart Lung Transplant, 26, 1229, 10.1016/j.healun.2007.10.017 Kuczmarski, 2000, CDC growth charts: United States, Adv Data, 1 Benden, 2013, The Registry of the International Society for Heart and Lung Transplantation: Sixteenth Official Pediatric Lung and Heart-Lung Transplantation Report—2013; focus theme: age, J Heart Lung Transplant, 32, 989, 10.1016/j.healun.2013.08.008 Khan, 2013, Is lung transplantation survival better in infants? Analysis of over 80 infants, J Heart Lung Transplant, 32, 44, 10.1016/j.healun.2012.09.027 Rama, 2013, Lung transplantation for childhood diffuse lung disease, Pediatr Pulmonol, 48, 490, 10.1002/ppul.22634 King, 2001, High-frequency oscillation and paralysis stabilize surfactant protein-B—deficient infants, J Perinatol, 21, 421, 10.1038/sj.jp.7210555 Palomar, 2006, Long-term outcomes after infant lung transplantation for surfactant protein B deficiency related to other causes of respiratory failure, J Pediatr, 149, 548, 10.1016/j.jpeds.2006.06.004 Wambach, 2014, Genotype- phenotype correlations for infants and children with ABCA3 deficiency, Am J Respir Crit Care Med, 189, 1538, 10.1164/rccm.201402-0342OC Elizur, 2009, Lung transplantation in infants and toddlers from 1990 to 2004 at St. Louis Children's Hospital, Am J Transplant, 9, 719, 10.1111/j.1600-6143.2009.02552.x Hmiel, 2005, Progressive chronic kidney disease after pediatric lung transplantation, Am J Transplant, 5, 1739, 10.1111/j.1600-6143.2005.00930.x Sweet, 1997, Pediatric lung transplantation at St. Louis Children's Hospital, 1990-1995, Am J Respir Crit Care Med, 155, 1027, 10.1164/ajrccm.155.3.9116982 Lederer, 2009, Obesity and underweight are associated with an increased risk of death after lung transplantation, Am J Respir Crit Care Med, 180, 887, 10.1164/rccm.200903-0425OC Thouvenin, 2013, Diffuse parenchymal lung disease caused by surfactant deficiency: dramatic improvement by azithromycin, BMJ Case Rep, 10.1136/bcr-2013-009988 Winter, 2014, Neonatal respiratory insufficiency caused by an (homozygous) ABCA3-stop mutation: a systematic evaluation of therapeutic options, Klin Padiatr, 226, 53, 10.1055/s-0033-1363687 Turcu, 2013, Genetic testing in children with surfactant dysfunction, Arch Dis Child, 98, 490, 10.1136/archdischild-2012-303166 Tredano, 2003, Analysis of 40 sporadic or familial neonatal and pediatric cases with severe unexplained respiratory distress: relationship to SFTPB, Am J Med Genet A, 119A, 324, 10.1002/ajmg.a.20058 Thomas, 2002, Heterozygosity for a surfactant protein C gene mutation associated with usual interstitial pneumonitis and cellular nonspecific interstitial pneumonitis in one kindred, Am J Respir Crit Care Med, 165, 1322, 10.1164/rccm.200112-123OC Percopo, 2004, Variable phenotype associated with SP-C gene mutations: fatal case with the I73T mutation, Eur Respir J, 24, 1072, 10.1183/09031936.04.00092304 Abou Taam, 2009, Familial interstitial disease with I73T mutation: a mid- and long-term study, Pediatr Pulmonol, 44, 167, 10.1002/ppul.20970 Fan, 2015, Diffuse lung disease in biopsied children 2-18 years of age: application of the chILD classification scheme, Ann Am Thorac Soc, 12, 1498, 10.1513/AnnalsATS.201501-064OC