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拉龙综合征患者的残疾与障碍

Disabilities and Handicaps of Patients with Laron Syndrome.

作者信息

Laron Zvi

机构信息

Schneider Children's Medical Center, Petah Tikva, Faculty of Medical & Health Sciences, Tel Aviv University, Tel Aviv-Yafo 6997801, Israel.

出版信息

Children (Basel). 2025 Sep 22;12(9):1271. doi: 10.3390/children12091271.

Abstract

: Laron Syndrome (LS) is a rare hereditary form of dwarfism occurring, with few exceptions, in Jewish, Muslim, and Asian populations or their descendants spread over all continents. It is caused by deletions or mutations in the GH-Receptor gene, resulting in high serum levels of a structurally and biologically normal, but inactive GH and low-to-undetectable IGF-I. : To summarize the disabilities and handicaps observed in patients with LS, from infancy through adult age. : Diagnosing, treating and following a cohort of 76 patients with LS (in many cases from infancy into adult age) enabled our department to study not only their growth and social achievements, but also the difficulties these patients encounter in life. The longstanding IGF-I deficiency caused somatic and biochemical changes which led to disabilities starting in infancy and becoming more severe with advancing age. The most serious symptoms LS patients have are dwarfism, progressive obesity, diabetes, fatty liver, cardiovascular disease, and neurological and orthopedic problems, leading to difficulties in vocational training, occupation, and social life, all lowering the Quality of Life (QoL) of these patients. : Early initiation of IGF-I replacement treatment in patients with Laron Syndrome prevents and reverses some of the symptoms associated with longstanding IGF-I deficiency.

摘要

拉龙综合征(LS)是一种罕见的遗传性侏儒症,除少数情况外,发生在犹太、穆斯林和亚洲人群或分布在各大洲的他们的后裔中。它由生长激素受体基因的缺失或突变引起,导致血清中结构和生物学上正常但无活性的生长激素水平升高,以及胰岛素样生长因子-I(IGF-I)水平低至无法检测到。

总结从婴儿期到成年期拉龙综合征患者所观察到的残疾和障碍情况。

对76名拉龙综合征患者(许多病例从婴儿期到成年期)进行诊断、治疗和随访,使我们科室不仅能够研究他们的生长和社会成就,还能研究这些患者在生活中遇到的困难。长期的IGF-I缺乏导致了躯体和生化变化,这些变化从婴儿期开始导致残疾,并随着年龄增长而变得更加严重。拉龙综合征患者最严重的症状是侏儒症、进行性肥胖、糖尿病、脂肪肝、心血管疾病以及神经和骨科问题,这些导致职业培训、职业和社会生活方面的困难,所有这些都降低了这些患者的生活质量(QoL)。

在拉龙综合征患者中早期开始IGF-I替代治疗可预防和逆转一些与长期IGF-I缺乏相关的症状。

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