Clinical features of children with SFTPC and ABCA3 mutations
Clinical features of children with SFTPC and ABCA3 mutations
SFTPC[1,2,3,4]
ABCA3[5,6]
Tachypnea
+++
+++
Cough
+++
+++
Hypoxemia
+++
+++
Failure to thrive
+++
++
Crackles
+
++
Clubbing
+
++
Pectus excavatum
NS
++
Clinical features observed in children with SFTPC and ABCA3 related lung disease who presented after the neonatal period. (+ indicates that up to 1/3 of patients exhibited the finding, ++ indicates that up to 2/3 exhibited the finding, +++ indicates that more than 2/3 exhibited the finding.)
SFTPC: surfactant protein C; ABCA3: member A3 of the ATP Binding Cassette family of proteins; NS: not specified.
References:
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.
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.
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.
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.
Doan ML, Guillerman RP, Dishop MK, et al. Clinical, radiological and pathological features of ABCA3 mutations in children. Thorax 2008; 63:366.
Kröner C, Wittmann T, Reu S, et al. Lung disease caused by ABCA3 mutations. Thorax 2017; 72:213.
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