先天性角化不良合并肺纤维化和骨髓增生异常综合征伴DKC1基因种系突变和白细胞U2AF1基因体细胞突变

IF 1.1 4区医学 Q3 MEDICINE, GENERAL & INTERNAL

Internal Medicine Pub Date : 2025-10-15 Epub Date: 2025-04-05 DOI:10.2169/internalmedicine.5153-24

Hiroko Watanabe, Yuta Takahashi, Tomohiro Namiki, Ryusei Nakagawa, Toshihide Inui, Hiroaki Ishikawa, Manabu Wakamatsu, Hideki Muramatsu, Tohru Sakamoto

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引用次数: 0

摘要

先天性角化不良症（DC）是一种罕见的遗传疾病，是由异常端粒缩短引起的。我们在此报告一例40岁男性典型DC，以粘膜皮肤三联征合并肺纤维化和骨髓增生异常综合征（MDS）为特征。淋巴细胞端粒长度极短（-3.3标准差）。我们鉴定了DKC1基因的种系突变c.C91A。我们还在白细胞的U2AF1基因中发现了体细胞突变c.C101T，这可能与MDS的发生有关。尼达尼布开始治疗，但患者在诊断后6个月死于双侧气胸。

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Dyskeratosis Congenita Complicated by Pulmonary Fibrosis and Myelodysplastic Syndrome with a Germline Mutation of the DKC1 Gene and a Somatic Mutation of the U2AF1 Gene in Leukocytes.

Dyskeratosis congenita (DC) is a rare genetic disorder that is caused by abnormal telomere shortening. We herein report the case of a 40-year-old man with classic DC characterized by a mucocutaneous triad complicated by pulmonary fibrosis and myelodysplastic syndrome (MDS). The telomere length of lymphocytes was extremely short (-3.3 standard deviations). We identified the germline mutation c.C91A in DKC1 gene. We also identified a somatic mutation c.C101T in the U2AF1 gene of leukocytes, which may be associated with MDS development. Nintedanib was started, but the patient died of bilateral pneumothorax 6 months after diagnosis.

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来源期刊

Internal Medicine 医学-医学：内科

CiteScore

1.90

自引率

8.30%

发文量

审稿时长

2.2 months

期刊介绍： Internal Medicine is an open-access online only journal published monthly by the Japanese Society of Internal Medicine. Articles must be prepared in accordance with "The Uniform Requirements for Manuscripts Submitted to Biomedical Journals (see Annals of Internal Medicine 108: 258-265, 1988), must be contributed solely to the Internal Medicine, and become the property of the Japanese Society of Internal Medicine. Statements contained therein are the responsibility of the author(s). The Society reserves copyright and renewal on all published material and such material may not be reproduced in any form without the written permission of the Society.