Stručni rad
Lethal respiratory failure due to a surfactant protein C gene mutation
SRĐAN BANAC
; Department of Pediatrics, Clinical Hospital Center Rijeka, Istarska 43, 51000 Rijeka, Croatia
SANDRO DESSARDO
; Department of Pediatrics, Clinical Hospital Center Rijeka, Istarska 43, 51000 Rijeka, Croatia
KRISTINA LAH-TOMULIĆ
; Department of Pediatrics, Clinical Hospital Center Rijeka, Istarska 43, 51000 Rijeka, Croatia
NEVEN FRLETA
; Department of Pediatrics, Clinical Hospital Center Rijeka, Istarska 43, 51000 Rijeka, Croatia
NADA SINDIČIĆ-DESSARDO
; Department of Neonatology, Clinical Hospital Center Rijeka, Rijeka, Croatia
GIORDANO ŠAINA
; Department of Paediatric Radiology, Clinical Hospital Center Rijeka, Rijeka, Croatia
KSENIJA LUČIN
; Department of Pathology, School of Medicine, University of Rijeka, Rijeka, Croatia
Sažetak
A case of a full-term male infant with recurrent episodes of „obstructive bronchitis” and „bilateral pneumonias”, refractory to conventional asthma therapy, is reported. When referred to the paediatric clinic at the age of 15 months, his clinical presentation was of acute respiratory distress syndrome with severe hypoxemia, which was easily corrected by the inhalation of oxygen. A series of further investigations, including lung biopsy, suggested the diagnosis of childhood interstitial lung disease (ILD). Due to progressive respiratory failure, the boy died after 3 months of mechanical ventilator support, at the age of 19 months. Subsequently performed genetic studies revealed that he was heterozygous for the I73T mutation of the surfactant protein C precursor protein. Thus, suspicion of childhood ILD due to genetic mutations that influence surfactant metabolism should be raised in children who present with unexplained respiratory distress or chronic respiratory symptoms. Less invasive testing, such as surfactant protein genetics, may be diagnostic in such cases.
Ključne riječi
child; interstitial lung disease; respiratory distress; surfactant deficiency; surfactant protein C
Hrčak ID:
108709
URI
Datum izdavanja:
1.10.2012.
Posjeta: 975 *