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Pregled bibliografske jedinice broj: 649617

Lethal respiratory failure due to a surfactant protein C gene mutation


Banac, Srđan; Dessardo, Sandro; Lah Tomulić, Kristina; Frleta, Neven; Sindičić Dessardo, Nada; Šaina, Giordano; Lučin, Ksenija
Lethal respiratory failure due to a surfactant protein C gene mutation // Signa Vitae, 7 (2012), 2; 47-49 (recenziran, članak, stručni)


CROSBI ID: 649617 Za ispravke kontaktirajte CROSBI podršku putem web obrasca

Naslov
Lethal respiratory failure due to a surfactant protein C gene mutation

Autori
Banac, Srđan ; Dessardo, Sandro ; Lah Tomulić, Kristina ; Frleta, Neven ; Sindičić Dessardo, Nada ; Šaina, Giordano ; Lučin, Ksenija

Izvornik
Signa Vitae (1334-5605) 7 (2012), 2; 47-49

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, stručni

Ključne riječi
Child; Interstitial lung disease; Respiratory distress; Surfactant defficiency; Surfactant protein C

Sažetak
A case of full-term male infant with recurent episodes of "obstructive bronchitis" and "bilateral pneumonias", refractory to conventional asthma therapy, is reported. When referred to the paediatric clinic at age of 15 months, his clinical presentation was of acute respiratory distress syndrome with severe hypoxemia, which was easily corrected by the inhalation of oxigen. A series of further investigations, including lung biopsy, suggested the diagnosis of childhood interstitial lung disease (ILD). Due to progressive respiratory failure, the body died after 3 months of mechanical ventilator support, at the age of 19 months. Susequently 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 respiratoy symptoms. Less invasive testing, such as surfactant protein genetics, may be diagnostic in such cases.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti



POVEZANOST RADA


Projekti:
062-0620228-0196 - Bronhoskopija i bronhoalveolarna lavaža u djece s tvrdokornom sipnjom (Banac, Srđan, MZOS ) ( POIROT)

Ustanove:
Medicinski fakultet, Rijeka


Citiraj ovu publikaciju:

Banac, Srđan; Dessardo, Sandro; Lah Tomulić, Kristina; Frleta, Neven; Sindičić Dessardo, Nada; Šaina, Giordano; Lučin, Ksenija
Lethal respiratory failure due to a surfactant protein C gene mutation // Signa Vitae, 7 (2012), 2; 47-49 (recenziran, članak, stručni)
Banac, S., Dessardo, S., Lah Tomulić, K., Frleta, N., Sindičić Dessardo, N., Šaina, G. & Lučin, K. (2012) Lethal respiratory failure due to a surfactant protein C gene mutation. Signa Vitae, 7 (2), 47-49.
@article{article, author = {Banac, Sr\djan and Dessardo, Sandro and Lah Tomuli\'{c}, Kristina and Frleta, Neven and Sindi\v{c}i\'{c} Dessardo, Nada and \v{S}aina, Giordano and Lu\v{c}in, Ksenija}, year = {2012}, pages = {47-49}, keywords = {Child, Interstitial lung disease, Respiratory distress, Surfactant defficiency, Surfactant protein C}, journal = {Signa Vitae}, volume = {7}, number = {2}, issn = {1334-5605}, title = {Lethal respiratory failure due to a surfactant protein C gene mutation}, keyword = {Child, Interstitial lung disease, Respiratory distress, Surfactant defficiency, Surfactant protein C} }
@article{article, author = {Banac, Sr\djan and Dessardo, Sandro and Lah Tomuli\'{c}, Kristina and Frleta, Neven and Sindi\v{c}i\'{c} Dessardo, Nada and \v{S}aina, Giordano and Lu\v{c}in, Ksenija}, year = {2012}, pages = {47-49}, keywords = {Child, Interstitial lung disease, Respiratory distress, Surfactant defficiency, Surfactant protein C}, journal = {Signa Vitae}, volume = {7}, number = {2}, issn = {1334-5605}, title = {Lethal respiratory failure due to a surfactant protein C gene mutation}, keyword = {Child, Interstitial lung disease, Respiratory distress, Surfactant defficiency, Surfactant protein C} }

Časopis indeksira:


  • Web of Science Core Collection (WoSCC)
    • Science Citation Index Expanded (SCI-EXP)
    • SCI-EXP, SSCI i/ili A&HCI
  • Scopus


Uključenost u ostale bibliografske baze podataka::


  • CAB Abstracts





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