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Autori: Banac, Srđan; Dessardo, Sandro; Lah Tomulić, Kristina; Šaina, Giordano; Lučin, Ksenija
Naslov: Persistent respiratory symptoms in an infant
( Persistent respiratory symptoms in an infant )
Izvornik: European Respiratory Journal 2009 ; 34(Suppl 53)
Skup: 19th ERS Annual Congress
Mjesto i datum: Beč, Austrija, 12-16.09.2009.
Ključne riječi: Child; chronic respiratory symptoms; surfactant protein C
( Child; chronic respiratory symptoms; surfactant protein C )
A 15-month old boy with a history of persistent bronchoobstructive symptoms, which started at the age of 7 months, has arrived at our clinic receiving oxygen by a face mask, and having a severely ill aspect. He was tachypnoic, cyanotic and completely oxygen dependent. Without the O2 supplementation saturation droped to 40% immidiately. The values of pCO2 were normal. Lung radiography showed bilateral infiltrates resembling ARDS. Surprisingly, auscultatory finding on his lungs was normal. He had obviuos digital clubbing and spectacular weight loss (body weight 7700 g ; birth weight 3300 g). Heart and blood diseases, CF, immunodeficiency, infections, allergies and autoimmune diseases were excluded by many tests. Brochoscopic finding was normal and HRCT showed immpressive widespread changes. Since the boy's condition deteriorated open lung biopsy was performed. Microscopic examination showed an organising phase of diffuse alveolar damage which appears to be superimposed on hypoplastic lung. Pulmonary vasculature was normal with no evidence of hipertensive changes. There were no organisms, vasculitis, granuloma formation or evidence of malignancy. The boy was recovered in PICU and his condition continued to be critical in spite to the administration of systemic corticosteroids, azathioprine, hydroxychloroquine, surfactant and IVIG. He died at the age of 19.5 months. Subsequently performed genetic studies revealed that the boy was heterozygous for the I73T mutation of the SP-C precursor protein. As there is currently no specific treatment for the lung disease due to SP-C gene mutations, the boy's parents did not wish to have their DNA analysed. They have two healthy daughters.
Vrsta sudjelovanja: Poster
Vrsta prezentacije u zborniku: Sažetak
Vrsta recenzije: Međunarodna recenzija
Projekt / tema: 062-0620228-0196
Izvorni jezik: eng
Kategorija: Stručni
Znanstvena područja:
Kliničke medicinske znanosti
Upisao u CROSBI: (, 1. Tra. 2010. u 13:45 sati

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