Health and well-being of maturing adults with classic galactosemia.

IF 4.2 2区 医学 Q1 ENDOCRINOLOGY & METABOLISM
Olivia S Garrett, Jared J Druss, E Naomi Vos, Yu-Ting Debbie Fu, Stephanie Lucia, Patricia E Greenstein, Anna Bauer, Jolanta Sykut-Cegielska, Karolina M Stepien, Cameron Arbuckle, Olga Grafakou, Uta Meyer, Nele Vanhoutvin, Adriana Pané, Annet M Bosch, Estela Rubio-Gozalbo, Gerard T Berry, Judith L Fridovich-Keil
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Abstract

Long-term outcomes in classic galactosemia (CG) have been studied previously, but all prior studies have relied on cohorts of patients that were small in number, or heavily skewed toward children and young adults, or both. Here, we extend what is known about the health and well-being of maturing adults with CG by analyzing the results of anonymous custom surveys completed by 92 affected individuals, ages 30-78, and 38 unaffected sibling controls, ages 30-79. The median age for patients was 38.5 years and for controls was 41 years. These study participants hailed from 12 different countries predominantly representing Europe and North America. Participants reported on their general life experiences and outcomes in seven different domains including: speech/voice/language, cognition, motor function, cataracts, bone health, psychosocial well-being, and gastrointestinal health. We also queried women about ovarian function. Our results indicated a prevalence of long-term complications across all outcome domains that aligned with levels previously reported in younger cohorts. Given the sample size and age range of participants in this study, these findings strongly suggest that the adverse developmental outcomes commonly linked to CG are not progressive with age for most patients. We also tested four candidate modifiers for possible association with each of the outcomes followed, including: days of neonatal milk exposure, rigor of dietary galactose restriction in early childhood, current age, and home continent. We observed no associations that reached even nominal significance, except for the following: cataracts with neonatal milk exposure (p = 2.347e-04), cataracts with age (p = 0.018), and bone health with home continent (p = 0.03).

典型半乳糖血症成年患者的健康和福祉。
以前曾对典型半乳糖血症(CG)的长期结果进行过研究,但所有以前的研究都依赖于人数较少或严重偏向儿童和青壮年的患者群体,或两者兼而有之。在这里,我们通过分析 92 名年龄在 30-78 岁之间的受影响者和 38 名年龄在 30-79 岁之间的未受影响的兄弟姐妹对照者所完成的匿名定制调查的结果,扩展了对患有 CG 的成年患者的健康和福祉的了解。患者的中位年龄为 38.5 岁,对照组的中位年龄为 41 岁。这些研究参与者来自 12 个不同的国家,主要代表欧洲和北美。参与者报告了他们的一般生活经历和七个不同领域的结果,包括:言语/声音/语言、认知、运动功能、白内障、骨骼健康、社会心理健康和肠胃健康。我们还询问了妇女卵巢功能的情况。我们的结果表明,在所有结果领域中,长期并发症的发生率与之前在年轻组群中报告的水平一致。考虑到这项研究的样本量和参与者的年龄范围,这些发现有力地表明,对于大多数患者来说,通常与 CG 相关的不良发育结果并不会随着年龄的增长而逐渐加重。我们还测试了四种候选修饰因子与每种结果之间可能存在的关联,包括:新生儿牛奶接触天数、幼儿期饮食中半乳糖限制的严格程度、当前年龄和家庭所在大陆。我们观察到,除了以下几种情况外,没有任何关联达到甚至是名义上的显著性:白内障与新生儿牛奶暴露(p = 2.347e-04)、白内障与年龄(p = 0.018)以及骨骼健康与家乡大陆(p = 0.03)。
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来源期刊
Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease 医学-内分泌学与代谢
CiteScore
9.50
自引率
7.10%
发文量
117
审稿时长
4-8 weeks
期刊介绍: The Journal of Inherited Metabolic Disease (JIMD) is the official journal of the Society for the Study of Inborn Errors of Metabolism (SSIEM). By enhancing communication between workers in the field throughout the world, the JIMD aims to improve the management and understanding of inherited metabolic disorders. It publishes results of original research and new or important observations pertaining to any aspect of inherited metabolic disease in humans and higher animals. This includes clinical (medical, dental and veterinary), biochemical, genetic (including cytogenetic, molecular and population genetic), experimental (including cell biological), methodological, theoretical, epidemiological, ethical and counselling aspects. The JIMD also reviews important new developments or controversial issues relating to metabolic disorders and publishes reviews and short reports arising from the Society''s annual symposia. A distinction is made between peer-reviewed scientific material that is selected because of its significance for other professionals in the field and non-peer- reviewed material that aims to be important, controversial, interesting or entertaining (“Extras”).
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