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تعداد آیتم قابل مشاهده باقیمانده : -64 مورد

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
  • Improvement after critical illness in infancy possible[1,2]
  • Onset of symptoms and survival well into adulthood possible
  • Neonatal lethal
  • Variable severity in childhood
  • Neonatal lethal
  • Variable severity in childhood
Treatment options described in literature
  • Supportive
  • Lung transplant[3,4]
  • Supportive[1]
  • Corticosteroids[5,6]
  • Hydroxychloroquine[5,6]
  • Azithromycin[5]
  • Lung transplant[4]
  • Supportive
  • Corticosteroids[7]
  • Hydroxychloroquine[7,8]
  • Lung transplant[9,10]
  • 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.
ABCA3: gene encoding the member A3 of the ATP-binding cassette family of proteins; NKX2-1/TTF1: gene encoding thyroid transcription factor 1; SFTPB: gene encoding the surfactant protein B; SFTPC: gene encoding surfactant protein C.
References:
  1. 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.
  2. Liptzin DR, McGraw MD, Stidham T, et al. Noninvasive management of infants with SFTPC pathogenic variants. Pediatr Pulmonol 2024; 59:488.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. Doan ML, Guillerman RP, Dishop MK, et al. Clinical, radiological and pathological features of ABCA3 mutations in children. Thorax 2008; 63: 366.
  8. Williamson M, Wallis C. Ten-year follow up of hydroxychloroquine treatment for ABCA3 deficiency. Pediatr Pulmonol 2014; 49:299.
  9. 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.
  10. 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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