Xiao-Ling Cai, Hang Chen, Xue-Qin Lin, Hong Zhang, Yi-Fei Xiang, Ming-Xiang Wu, Kai-Yang Lin
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引用次数: 0
Abstract
Hutchinson-Gilford progeria syndrome (HGPS) is a rare autosomal dominant disorder characterised by premature ageing, with an average life expectancy of 14.6 years. We report a case of HGPS associated with a typical C. 1824 C > T (P. Gly608Gly) mutation in the 11th exon of the LMNA gene in a 21-year-old woman. The patient presented with a three-year history of progressive exertional dyspnea that acutely worsened over the five days preceding admission. She had a short stature (weight 13 kg, height 85 cm), typical craniofacial features, and scleroderma-like skin changes. Cardiovascular evaluation showed signs of premature ageing (ejection fraction 30.8%). This patient is the oldest among all reported cases of HGPS associated with typical mutations. We describe rapid progression of HGPS in this patient and recommend that physicians should consider coronary heart disease in the differential diagnosis of chest pain in patients with HGPS, regardless of age.
哈钦森-吉尔福德早衰综合征（HGPS）是一种罕见的常染色体显性遗传病，其特征是过早衰老，平均预期寿命为14.6年。我们报告了一例HGPS与典型的C. 1824 C. > T （P. Gly608Gly）突变相关的LMNA基因第11外显子的21岁女性。患者有3年进行性用力呼吸困难病史，入院前5天急性加重。她身材矮小（体重13公斤，身高85厘米），颅面特征典型，皮肤硬皮病样变化。心血管评估显示早衰迹象（射血分数30.8%）。该患者是所有与典型突变相关的HGPS报告病例中年龄最大的。我们描述了该患者HGPS的快速进展，并建议医生在鉴别诊断HGPS患者胸痛时应考虑冠心病，无论年龄大小。
期刊介绍：
Orphanet Journal of Rare Diseases is an open access, peer-reviewed journal that encompasses all aspects of rare diseases and orphan drugs. The journal publishes high-quality reviews on specific rare diseases. In addition, the journal may consider articles on clinical trial outcome reports, either positive or negative, and articles on public health issues in the field of rare diseases and orphan drugs. The journal does not accept case reports.
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