Pulmonary fibrosis in dyskeratosis congenita: a case report with a PRISMA-compliant systematic review.

ABSTRACT:

Background

Dyskeratosis congenita (DC) is a rare genetic disorder of poor telomere maintenance. Pulmonary fibrosis (PF) related to DC is rarely reported.

Case presentation

A 23-year-old student presented with a four-year history of progressive cough and exertional dyspnea. Physical examination was remarkable for typical mucocutaneous abnormalities. Chest computerized tomography scan revealed interstitial fibrosis. Testing of peripheral blood leukocytes confirmed that his telomeres were 30th percentile of age-matched controls. A heterozygous missense mutation located in exon 22 of PARN gene was identified in the patient by whole exome sequencing. The patient refused danazol therapy and lung transplantation, and died of respiratory failure 2 years later. In addition, this case

SUBMITTER: Wang P 

PROVIDER: S-EPMC8418029 | biostudies-literature | 2021 Sep

REPOSITORIES: biostudies-literature