先天性角化不良
医学
肺纤维化
复合杂合度
遗传咨询
病理
突变
皮肤病科
纤维化
遗传学
生物
基因
端粒
作者
Chantal Cortesão,Leticia Balanco,Pedro Gonçalo Ferreira
出处
期刊:Case Reports
[BMJ]
日期:2025-04-01
卷期号:18 (4): e265092-e265092
标识
DOI:10.1136/bcr-2025-265092
摘要
A subset of idiopathic pulmonary fibrosis cases has a familial component. Telomeric mutations, such as those in the Regulator of Telomere Elongation Helicase 1 (RTEL1) gene, have been associated with lung fibrosis and a minority of dyskeratosis congenita (DC) cases. We present the case of a A male in his 50s with pulmonary fibrosis, cryptogenic hepatic cirrhosis, chronic anaemia and thrombocytopenia, lacy skin hyperpigmentation, dystrophic nails and canities. Family history included pulmonary fibrosis in two brothers. Genetic testing identified a RTEL1 mutation (c.3730T>C, p.Cys1244Arg) in heterozygosity, linked to a few cases of pulmonary fibrosis and DC. This mutation was confirmed in one brother and two sons. The patient was started on pirfenidone and referred for respiratory rehabilitation, haematological and transplant evaluations. Recognising family history and extrapulmonary manifestations in familial pulmonary fibrosis can expedite diagnosis, treatment and genetic counselling. Early detection of DC allows timely management of bone marrow failure and malignancy screening.
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