Familial interstitial pneumonia in an adolescent boy with surfactant protein C gene (Y104H) mutation.

We report here a case of familial interstitial pneumonia in an adolescent boy whose paternal grandfather and father suffered from idiopathic interstitial pneumonia (IIP). The patient was asymptomatic but showed an abnormal shadow in the chest at his medical check-up. The surgical biopsy of the patient revealed non-specific interstitial pneumonia and showed pathological findings similar to those in his father's autopsy. Genomic DNA from blood leucocytes of the patient was sequenced for the Thy104His (Y104H) SFTPC mutation. Based on these results, he was diagnosed with SFTPC mutation-associated familial interstitial pneumonia. There has been no clinical, physiologic and radiologic progression for 4 years since the diagnosis. The relation between clinical manifestation and the mutation site of the patient may broaden the spectrum of SFTPC mutation-associated interstitial pneumonia. PMID: 24003539 [PubMed - indexed for MEDLINE]
Source: Sarcoidosis Vasculitis and Diffuse Lung Diseases - Category: Respiratory Medicine Tags: Sarcoidosis Vasc Diffuse Lung Dis Source Type: research

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Source: Lung India - Category: Respiratory Medicine Authors: Source Type: research
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Source: Advances in Experimental Medicine and Biology - Category: Research Tags: Adv Exp Med Biol Source Type: research
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Source: Sarcoidosis Vasculitis and Diffuse Lung Diseases - Category: Respiratory Medicine Tags: Sarcoidosis Vasc Diffuse Lung Dis Source Type: research
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Source: Sarcoidosis Vasculitis and Diffuse Lung Diseases - Category: Respiratory Medicine Tags: Sarcoidosis Vasc Diffuse Lung Dis Source Type: research
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Source: Chest - Category: Respiratory Medicine Authors: Tags: Chest Source Type: research
Authors: De Martino M, Cobuccio R, Bruzzese D, Rea G, Meoli I, Stefanelli F, Canora A, Capaccio A, Sanduzzi A, Matarese A, Bocchino M Abstract Assessment of exercise performance is a key component in the management of interstitial lung diseases, as its limitation may occur very early. Aim of the present study was to assess ventilation dynamics in combination with pulse-oximetry changes in 54 clinically stable patients affected by idiopathic pulmonary fibrosis or idiopathic fibrotic nonspecific interstitial pneumonia. Testing was successfully performed with the Spiropalm 6-MWT Hand-held spirometer by the majority of...
Source: Sarcoidosis Vasculitis and Diffuse Lung Diseases - Category: Respiratory Medicine Tags: Sarcoidosis Vasc Diffuse Lung Dis Source Type: research
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Source: Sarcoidosis Vasculitis and Diffuse Lung Diseases - Category: Respiratory Medicine Tags: Sarcoidosis Vasc Diffuse Lung Dis Source Type: research
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Source: Clinical Medicine Insights: Circulatory, Respiratory and Pulmonary Medicine - Category: Respiratory Medicine Authors: Source Type: research
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Source: Sarcoidosis Vasculitis and Diffuse Lung Diseases - Category: Respiratory Medicine Tags: Sarcoidosis Vasc Diffuse Lung Dis Source Type: research
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Source: Sarcoidosis Vasculitis and Diffuse Lung Diseases - Category: Respiratory Medicine Tags: Sarcoidosis Vasc Diffuse Lung Dis Source Type: research
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