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خرید پکیج
تعداد آیتم قابل مشاهده باقیمانده : 3 مورد
نسخه الکترونیک
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Genetic disorders causing surfactant dysfunction

Genetic disorders causing surfactant dysfunction
  SFTPB SFTPC ABCA3 NKX2-1/TTF1
Mode of inheritance Autosomal recessive Autosomal dominant, de novo Autosomal recessive Autosomal dominant, de novo 
Pulmonary presentations Neonatal respiratory distress syndrome

Childhood interstitial lung disease

Adult interstitial lung disease

Neonatal respiratory distress syndrome

Neonatal respiratory distress syndrome

Childhood interstitial lung disease

Neonatal respiratory distress syndrome

Childhood interstitial lung disease

Recurrent infection

No pulmonary involvement

Course Neonatal lethal

Highly variable

Survival until 6th decade reported

Neonatal lethal

Variable severity in childhood

Neonatal lethal

Variable severity in childhood

Treatment options described in literature

Supportive

Lung transplant[1,2]

Supportive[3]

Corticosteroids[4,5]

Hydroxychloroquine[4,5]

Azithromycin[4]

Lung transplant[2]

Supportive

Corticosteroids[6]

Hydroxychloroquine[6,7]

Lung transplant[8,9]

Supportive
Comparative features of inheritance, timing of presentation, outcomes, and treatment options described in the literature for the 4 main causes of genetic surfactant dysfunction. "Supportive" care indicates measures for respiratory, nutritional, and antiinfective care.
SFTPB: gene encoding the surfactant protein B; SFTPC: gene encoding surfactant protein C; ABCA3: gene encoding the member A3 of the ATP-binding cassette family of proteins; NKX2-1/TTF1: gene encoding thyroid transcription factor 1.
References:
  1. Hamvas A, Nogee LM, Mallory GB Jr, et al. Lung transplantation for treatment of infants with surfactant protein B deficiency. J Pediatr 1997; 130:231.
  2. Palomar LM, Nogee LM, Sweet SC, et al. Long-term outcomes after infant lung transplantation for surfactant protein B deficiency related to other causes of respiratory failure. J Pediatr 2006; 149:548.
  3. Liptzin DR, Patel T, Deterding RR. Chronic ventilation in infants with surfactant protein C mutations: an alternative to lung transplantation. Am J Respir Crit Care Med 2015; 191:1338.
  4. Abou Taam R, Jaubert F, Emond S, et al. Familial interstitial disease with I73T mutation: A mid- and long-term study. Pediatr Pulmonol 2009; 44:167.
  5. Thouvenin G, Abou Taam R, Flamein F, et al. Characteristics of disorders associated with genetic mutations of surfactant protein C. Arch Dis Child 2010; 95:449.
  6. Doan ML, Guillerman RP, Dishop MK, et al. Clinical, radiological and pathological features of ABCA3 mutations in children. Thorax 2008; 63: 366.
  7. Williamson M, Wallis C. Ten-year follow up of hydroxychloroquine treatment for ABCA3 deficiency. Pediatr Pulmonol 2014; 49:299.
  8. Hamvas A, Nogee LM, Wegner DJ, et al. Inherited surfactant deficiency caused by uniparental disomy of rare mutations in the surfactant protein-B and ATP binding cassette, subfamily a, member 3 genes. J Pediatr 2009; 155:854.
  9. Eldridge WB, Zhang Q, Faro A, et al. Outcomes of Lung Transplantation for Infants and Children with Genetic Disorders of Surfactant Metabolism. J Pediatr 2017; 184:157.
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