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خرید پکیج
تعداد آیتم قابل مشاهده باقیمانده : -17 مورد

Clinical features of children with SFTPC and ABCA3 mutations

Clinical features of children with SFTPC and ABCA3 mutations
  SFTPC[1-4] ABCA3[5,6]
Tachypnea +++ +++
Cough +++ +++
Hypoxemia +++ +++
Failure to thrive +++ ++
Crackles + ++
Clubbing + ++
Pectus excavatum Not specified ++

Clinical features observed in children with SFTPC- and ABCA3-related lung disease who presented after the neonatal period.

+ indicates that up to one-third of patients exhibited the finding, ++ indicates that up to two-thirds exhibited the finding, and +++ indicates that more than two-thirds exhibited the finding.
ABCA3: member A3 of the ATP-binding cassette family of proteins; SFTPC: surfactant protein C.
References:
  1. 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.
  2. 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.
  3. Kröner C, Reu S, Teusch V, et al. Genotype alone does not predict the clinical course of SFTPC deficiency in paediatric patients. Eur Respir J 2015; 46:197.
  4. Litao MK, Hayes D Jr, Chiwane S, et al. A novel surfactant protein C gene mutation associated with progressive respiratory failure in infancy. Pediatr Pulmonol 2017; 52:57.
  5. Doan ML, Guillerman RP, Dishop MK, et al. Clinical, radiological and pathological features of ABCA3 mutations in children. Thorax 2008; 63:366.
  6. Kröner C, Wittmann T, Reu S, et al. Lung disease caused by ABCA3 mutations. Thorax 2017; 72:213.
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