Literature DB >> 20066064

Familial interstitial lung disease in four members of one family: a case series.

Esam H Alhamad1.   

Abstract

INTRODUCTION: Familial interstitial lung disease has been reported worldwide, mostly in Europe and North America; limited information is available on the disease among Arab patients. CASE
PRESENTATION: A 45-year-old woman presented to our outpatient clinic with a 1-year history of progressive dyspnea. At the age of 37 years, based on clinical and radiological features, our patient was diagnosed with idiopathic pulmonary fibrosis. A family history showed that of five deceased siblings, four had died of disease of undetermined etiology. In addition, we screened other family members, and three were shown to have clinical, radiological, and pathological features consistent with interstitial pneumonia.
CONCLUSION: Our report illustrates that younger age at presentation appears to be a common feature in patients with familial interstitial pneumonia. Otherwise, clinical, radiological, and histological features are indistinguishable from those of sporadic cases. Furthermore, our work highlights the importance of compiling a thorough family history in individuals presenting with cough and dyspnea, particularly in younger patients identified with idiopathic pulmonary fibrosis.

Entities:  

Year:  2009        PMID: 20066064      PMCID: PMC2804728          DOI: 10.1186/1757-1626-2-9356

Source DB:  PubMed          Journal:  Cases J        ISSN: 1757-1626


  19 in total

1.  A mutation in the surfactant protein C gene associated with familial interstitial lung disease.

Authors:  L M Nogee; A E Dunbar; S E Wert; F Askin; A Hamvas; J A Whitsett
Journal:  N Engl J Med       Date:  2001-02-22       Impact factor: 91.245

Review 2.  American Thoracic Society/European Respiratory Society International Multidisciplinary Consensus Classification of the Idiopathic Interstitial Pneumonias. This joint statement of the American Thoracic Society (ATS), and the European Respiratory Society (ERS) was adopted by the ATS board of directors, June 2001 and by the ERS Executive Committee, June 2001.

Authors: 
Journal:  Am J Respir Crit Care Med       Date:  2002-01-15       Impact factor: 21.405

3.  Idiopathic pulmonary fibrosis can be an autosomal dominant trait in some families.

Authors:  A Marney; K B Lane; J A Phillips; D J Riley; J E Loyd
Journal:  Chest       Date:  2001-07       Impact factor: 9.410

4.  Adult familial cryptogenic fibrosing alveolitis in the United Kingdom.

Authors:  R P Marshall; A Puddicombe; W O Cookson; G J Laurent
Journal:  Thorax       Date:  2000-02       Impact factor: 9.139

5.  Histopathologic variability in usual and nonspecific interstitial pneumonias.

Authors:  K R Flaherty; W D Travis; T V Colby; G B Toews; E A Kazerooni; B H Gross; A Jain; R L Strawderman; A Flint; J P Lynch; F J Martinez
Journal:  Am J Respir Crit Care Med       Date:  2001-11-01       Impact factor: 21.405

6.  Interstitial pulmonary fibrosis in two sisters. Possible autosomal recessive inheritance.

Authors:  M Tsukahara; T Kajii
Journal:  Jinrui Idengaku Zasshi       Date:  1983-12

7.  Familial idiopathic fibrosing alveolitis.

Authors:  P Barzó
Journal:  Eur J Respir Dis       Date:  1985-05

8.  Nationwide prevalence of sporadic and familial idiopathic pulmonary fibrosis: evidence of founder effect among multiplex families in Finland.

Authors:  U Hodgson; T Laitinen; P Tukiainen
Journal:  Thorax       Date:  2002-04       Impact factor: 9.139

9.  Genetic studies in familial fibrosing alveolitis. Possible linkage with immunoglobulin allotypes (Gm).

Authors:  A W Musk; P J Zilko; P Manners; P H Kay; M I Kamboh
Journal:  Chest       Date:  1986-02       Impact factor: 9.410

10.  Early interstitial lung disease in familial pulmonary fibrosis.

Authors:  Ivan O Rosas; Ping Ren; Nilo A Avila; Catherine K Chow; Teri J Franks; William D Travis; J Philip McCoy; Rose M May; Hai-Ping Wu; Dao M Nguyen; Mauricio Arcos-Burgos; Sandra D MacDonald; Bernadette R Gochuico
Journal:  Am J Respir Crit Care Med       Date:  2007-07-19       Impact factor: 21.405

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