TITLE

X-linked dyskeratosis congenita: restrictive pulmonary disease and a novel mutation

AUTHOR(S)
Safa, W. F.; Lestringant, G. G.; Frossard, P. M.
PUB. DATE
November 2001
SOURCE
Thorax;Nov2001, Vol. 56 Issue 11, p891
SOURCE TYPE
Academic Journal
DOC. TYPE
Article
ABSTRACT
Dyskeratosis congenita (DC) is a rare inherited multisystem disorder characterised by lesions of the skin and appendages. Bone marrow failure occurs in 80% of patients. The gene for the X-linked form of DC has been identified on Xq28 and designated as DKC1. Pulmonary manifestations have rarely been reported. It is not known whether there is a respiratory disease peculiar to these patients and, if so, whether it is associated with a specific genetic mutation. A 40 year old Egyptian man with pulmonary disease and his symptom free 35 year old brother both presented with mucocutaneous lesions characteristic of DC. In the older brother chest imaging revealed generalised intralobular interstitial thickening and honeycombing. Pulmonary function tests showed a restrictive pattern. Open lung biopsy specimens of lung tissue showed various degrees of fibrosis consistent with usual interstitial pneumonia of chronic idiopathic pulmonary fibrosis. The younger brother was free of pulmonary lesions. Both had a novel missense mutation 5C→T in exon 1 of the DKC1 gene. It is concluded that pulmonary disease in DC may be underestimated, possibly because most patients die at an early age of bone marrow failure. No relationship between genotype and phenotype could be established in the patients studied. The genetic diagnosis of DC is now available, which may enable it to be diagnosed in patients with restrictive pulmonary disease and minimal cutaneous signs.
ACCESSION #
12915323

 

Related Articles

  • Preparing for practice Spirometry. Brennan, Kay // Update;Nov2006, Vol. 73 Issue 5, p97 

    The article offers information on spirometry which is an important diagnostic technique for chronic obstructive pulmonary disease (COPD). The use of spirometry in primary care has flourished because of its inclusion in key national guidelines on managing COPD, including the 2004 NICE Guidelines...

  • What causes cryptogenic fibrosing alveolitis? A case-control study of environmental exposure to dust. Scott, Jonathan; Johnston, Ian; Britton, John // BMJ: British Medical Journal (International Edition);11/3/90, Vol. 301 Issue 6759, p1015 

    Examines the etiology of cryptogenic fibrosing alveolitis in Nottingham, England. Role of the occupational and domestic exposure to dust for the development of the disease; Survival of patients after a month of diagnosed; Evaluation of the restrictive pulmonary function test for the investigation.

  • Usefulness of peak expiratory flow measurements: is it just a matter of instrument accuracy? Brusasco, V. // Thorax;May2003, Vol. 58 Issue 5, p375 

    Editorial. Argues on the use of peak expiratory flow (PEF) as a main or sole measure of lung function, incorporated in the guidelines for diagnosis and management of asthma. Lack of usefulness of PEF in asthma monitoring; PEF measurements' possibility of detecting deterioration in airway...

  • COMPLICATED BRONCHIAL ASTHMA.  // Cortlandt Forum;06/25/2001, Vol. 14 Issue 6, p83 

    Answers queries on complicated bronchial asthma of patients with restrictive component on pulmonary function testing in Lorain County, Ohio. Causes of the asthma; Determination on the relation between obstructive and restrictive components; Evaluation of lung disease.

  • Tiotropium vs. Salmeterol in the Treatment of COPD. Miller, Karl E. // American Family Physician;12/1/2002, Vol. 66 Issue 11, p2155 

    Discusses the study 'A 6-month, placebo-controlled study comparing lung function and health status changes in COPD patient treated with tiotropium or salmeterol,' by J.F. Donohue et al., from the July 2002 issue of 'Chest.'

  • Silicosis in a Pakistani farmer. Fennerty, A.; Hunter, A.M.; Smith, A.P.; Pooley, F.D. // British Medical Journal (Clinical Research Edition);9/3/1983, Vol. 287 Issue 6393, p648 

    Reports nodular pulmonary fibrosis due to non-industrial exposure to silica dust. Discussions on the case report; Analysis of pulmonary function test; Manifestation of pneumoconiosis by exposure to the environmental dust.

  • EFFECT OF EIGHT WEEKS OF EXERCISE TRAINING ON LUNG FUNCTION IN PATIENTS WITH PULMONARY FIBROSIS. Hadi, Ammar Hamza; Kzar, Mazin Hadi // Human. Sport. Medicine;2016, Vol. 16 Issue 2, p62 

    Aim. The purpose of this study was to identify the effect of eight weeks of exercise training on lung function in PF patients. Material and Methods. Forty eight patients diagnosed with PF were participated in our training program which mainly consisted of a 8-week exercise training program....

  • ALLERGEN EXPOSURE AND THE DEVELOPMENT OF ASTHMA. Sporik, R.; Platts-Mills, T. A. E. // Thorax;Sep2001 Supp, Vol. 56, pii58 

    Background: In a prospective birth cohort study, we assessed the relevance of mite and cat allergen exposure for the development of childhood asthma up to age 7 years. Methods: Of 1314 newborn infants enrolled in five German cities in 1990, follow-up data at age 7 years were available for 939...

  • First word. Amukoye, Evans // African Journal of Respiratory Medicine;Sep2012, Vol. 8 Issue 1, p3 

    The article recognizes the efforts of the Pan African Thoracic Society Methods in Epidemiological and Operational Research (PATS MECOR) and the spirometer team for training clinicians in Africa on how to do quality lung function tests for chronic obstructive pulmonary disease (COPD).

Share

Read the Article

Courtesy of THE LIBRARY OF VIRGINIA

Sorry, but this item is not currently available from your library.

Try another library?
Sign out of this library

Other Topics