Diverse Pathological Findings of Interstitial Lung Disease in a Patient with Dyskeratosis Congenita.

Szczegóły
Abstrakt

Tytuł:: Diverse Pathological Findings of Interstitial Lung Disease in a Patient with Dyskeratosis Congenita.
Autorzy:: Otoshi R; Department of Respiratory Medicine, Kanagawa Cardiovascular and Respiratory Center, Japan.
Baba T; Department of Respiratory Medicine, Kanagawa Cardiovascular and Respiratory Center, Japan.
Shintani R; Department of Respiratory Medicine, Kanagawa Cardiovascular and Respiratory Center, Japan.
Kitamura H; Department of Respiratory Medicine, Kanagawa Cardiovascular and Respiratory Center, Japan.
Yamaguchi Y; Department of Environmental Immuno-Dermatology, Yokohama City University Hospital, Japan.
Hamanoue H; Department of Clinical Genetics, Yokohama City University Hospital, Japan.
Mizuguchi T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Japan.
Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Japan.
Okudela K; Department of Pathology, Yokohama City University Graduate School of Medicine, Japan.
Takemura T; Department of Pathology, Kanagawa Cardiovascular and Respiratory Center, Japan.
Ogura T; Department of Respiratory Medicine, Kanagawa Cardiovascular and Respiratory Center, Japan.
Źródło:: Internal medicine (Tokyo, Japan) [Intern Med] 2021 Apr 15; Vol. 60 (8), pp. 1257-1263. Date of Electronic Publication: 2020 Nov 16.
Typ publikacji:: Case Reports; Journal Article
Język:: English
Imprint Name(s):: Original Publication: Tokyo, Japan : Japanese Society of Internal Medicine, [1992-
MeSH Terms:: Dyskeratosis Congenita*/complications
Dyskeratosis Congenita*/diagnosis
Dyskeratosis Congenita*/genetics
Lung Diseases, Interstitial*/diagnosis
Lung Diseases, Interstitial*/genetics
Adult ; Biopsy ; Cell Cycle Proteins/genetics ; Humans ; Leukoplakia, Oral ; Lung ; Male ; Nuclear Proteins
References:: Bone Marrow Transplant. 1997 Feb;19(4):389-92. (PMID: 9051251)
Am J Respir Crit Care Med. 2019 Aug 1;200(3):336-347. (PMID: 30566847)
Am J Pediatr Hematol Oncol. 1992 Spring;14(1):89-92. (PMID: 1550271)
Thorax. 2001 Nov;56(11):891-4. (PMID: 11641517)
N Engl J Med. 2016 Sep 15;375(11):1095-6. (PMID: 27626528)
N Engl J Med. 2014 May 29;370(22):2071-82. (PMID: 24836310)
Clin Genet. 2008 Feb;73(2):103-12. (PMID: 18005359)
Int J Hematol. 2005 Oct;82(3):184-9. (PMID: 16207588)
Mutat Res. 2012 Feb 1;730(1-2):43-51. (PMID: 21745483)
Am J Respir Crit Care Med. 2018 Sep 1;198(5):e44-e68. (PMID: 30168753)
Eur Respir J. 2016 Dec;48(6):1721-1731. (PMID: 27836952)
Blood. 2006 Apr 1;107(7):2680-5. (PMID: 16332973)
Br J Haematol. 1998 Dec;103(4):990-6. (PMID: 9886310)
Eur Respir J. 2018 Mar 15;51(3):. (PMID: 29449422)
J Blood Med. 2014 Aug 21;5:157-67. (PMID: 25170286)
Mayo Clin Proc. 2005 Jun;80(6):817-21. (PMID: 15945534)
Intern Med. 1994 Apr;33(4):226-30. (PMID: 8069018)
Eur Respir J. 2014 Jul;44(1):178-87. (PMID: 24833766)
J Heart Lung Transplant. 2015 Oct;34(10):1318-24. (PMID: 26169663)
Eur Respir J. 2016 Dec;48(6):1710-1720. (PMID: 27540018)
Br J Haematol. 2000 Sep;110(4):768-79. (PMID: 11054058)
Contributed Indexing:: Keywords: DKC1 mutation; dyskeratosis congenita; interstitial pneumonia; nail dystrophy; oral leukoplakia; telomere
Substance Nomenclature:: 0 (Cell Cycle Proteins)
0 (DKC1 protein, human)
0 (Nuclear Proteins)
Entry Date(s):: Date Created: 20201116 Date Completed: 20210416 Latest Revision: 20210519
Update Code:: 20240105
PubMed Central ID:: PMC8112977
DOI:: 10.2169/internalmedicine.5143-20
PMID:: 33191321
: Czasopismo naukowe

A 42-year-old man with a history of surgery for tongue cancer was referred to our hospital due to an abnormal chest shadow. High-resolution computed tomography showed lower lobe reticulation. A physical examination revealed nail dystrophy, oral leukoplakia, and reticulated hypopigmentation. Lung biopsy revealed subpleural and perilobular fibrosis, suggestive of usual interstitial pneumonia. However, multiple pathological findings, including homogenous fibrosis and cell infiltration in the centrilobular region, which were compatible with nonspecific interstitial pneumonia, and bronchiolitis were also seen. Genetic testing showed a hemizygous missense mutation in the DKC1 gene, and the patient was diagnosed with dyskeratosis congenita. Although anti-fibrotic therapy was initiated, the patient's respiratory function has continued to decrease.

Informacja