从完整的罗马尼亚队列中对妇女进行法布里病表型分析--是时候提高早期诊断意识了。

IF 1.6 Q2 MEDICINE, GENERAL & INTERNAL Romanian Journal of Internal Medicine Pub Date : 2024-08-21 DOI:10.2478/rjim-2024-0027
Adriana Mursă, Sebastian Militaru, Elena Rusu, Sebastian Onciul, Gabriela Neculae, Robert Adam, Lucia Ciobotaru, Vlad Stefănescu, Adriana Dulămea, Viorica Rădoi, Bogdan Alexandru Popescu, Gener Ismail, Ruxandra Jurcuţ
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摘要

法布里病(FD)是一种由 GLA 基因突变引起的 X 连锁罕见疾病。与男性相比,女性法布里病患者参与研究和接受治疗的人数较少。本研究旨在描述罗马尼亚诊断和评估的女性法布里病患者的完整表型,并与男性患者进行比较。本研究纳入了2014-2023年间转诊至罕见遗传性心血管疾病专家中心的所有连续确诊的FD患者,其中包括73名连续的罗马尼亚FD患者:其中包括 73 名罗马尼亚 FD 连续患者:41 名女性(56.2%)和 32 名男性(43.8%),他们来自 33 个无血缘关系的家庭。女性FD患者确诊时间较晚,症状出现也较晚。与男性患者相比,女性患者较少出现症状,但症状严重程度相似。她们的眼科和耳鼻喉科受累情况相似,但血管角化瘤较少。女性和男性的心力衰竭症状相似,通常为轻度至中度,心力衰竭症状的出现年龄没有差异。男性和女性的尖锐湿疣和中风发病率也相似,但女性的肾脏受累较少,需要进行肾移植的情况也较少。这项研究表明,患有法布里病的女性不仅是该病的携带者,她们也可能出现与男性一样严重的症状,而且她们接受病理治疗的机会较少或较晚。为了更好地了解法布里病给女性带来的负担,还需要进行更多女性参与的研究。
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Fabry disease phenotyping in women from the complete Romanian cohort - time for early diagnostic awareness.

Fabry disease (FD) is an X-linked rare disorder caused by mutations in the GLA gene. Women with FD have been less enrolled in studies and less treated compared with men. The aim of the present study is to describe the complete phenotype of the women cohort with FD diagnosed and evaluated in Romania and compare it to the male population. This study included all consecutive patients diagnosed with FD referred to the Expert Center for Rare Genetic Cardiovascular Diseases between 2014-2023 which included 73 consecutive Romanian FD patients: 41 women (56.2%) and 32 men (43.8%) from 33 unrelated families. Women with FD were diagnosed later and had a later symptom onset. Comparing with men, women were less often symptomatic, but with similar symptom severity. They had similar ophthalmologic and ENT involvement, but less angiokeratomas. Both women and men had similar heart failure symptoms, which were usually mild to moderate, with no difference between the age of developing of the heart failure symptoms. There were also similar rates of acroparesthesia and stroke between sexes, but women presented less renal involvement, with less requirement for renal transplant. This study demonstrates that women with Fabry disease are not just carriers of the disease, they can present symptoms as severe as men, and they have less or later access to pathogenic therapy. Further studies with more female participations are needed to better understand the burden of Fabry disease in women.

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来源期刊
Romanian Journal of Internal Medicine
Romanian Journal of Internal Medicine MEDICINE, GENERAL & INTERNAL-
CiteScore
3.20
自引率
5.30%
发文量
35
审稿时长
15 weeks
期刊介绍: Romanian Journal of Physics is a journal publishing physics contributions on the following themes: •Theoretical Physics & Applied Mathematics •Nuclear Physics •Solid State Physics & Materials Science •Statistical Physics & Quantum Mechanics •Optics •Spectroscopy •Plasma & Lasers •Nuclear & Elementary Particles Physics •Atomic and Molecular Physics •Astrophysics •Atmosphere and Earth Science •Environment Protection
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