Early diagnosis and treatment by newborn screening (NBS) or family history is associated with improved visual outcomes for long-chain 3-hydroxyacylCoA dehydrogenase deficiency (LCHADD) chorioretinopathy

IF 4.2 2区 医学 Q1 ENDOCRINOLOGY & METABOLISM
Melanie B. Gillingham, Dongseok Choi, Ashley Gregor, Nida Wongchaisuwat, Danielle Black, Hannah L. Scanga, Ken K. Nischal, Jose-Alain Sahel, Georgianne Arnold, Jerry Vockley, Cary O. Harding, Mark E. Pennesi
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引用次数: 0

Abstract

Long chain 3-hydroxyacyl-CoA dehydrogenase (LCHADD) is the only fatty acid oxidation disorder to develop a progressive chorioretinopathy resulting in vision loss; newborn screening (NBS) for this disorder began in the United States around 2004. We compared visual outcomes among 40 participants with LCHADD or trifunctional protein deficiency diagnosed symptomatically to those who were diagnosed via NBS or a family history. Participants completed ophthalmologic testing including measures of visual acuity, electroretinograms (ERG), fundal imaging, contrast sensitivity, and visual fields. Records were reviewed to document medical and treatment history. Twelve participants presented symptomatically with hypoglycemia, failure to thrive, liver dysfunction, cardiac arrest, or rhabdomyolysis. Twenty eight were diagnosed by NBS or due to a family history of LCHADD. Participants diagnosed symptomatically were older but had similar percent males and genotypes as those diagnosed by NBS. Treatment consisted of fasting avoidance, dietary long-chain fat restriction, MCT, C7, and/or carnitine supplementation. Visual acuity, rod- and cone-driven amplitudes on ERG, contrast sensitivity scores, and visual fields were all significantly worse among participants diagnosed symptomatically compared to NBS. In mixed-effects models, both age and presentation (symptomatic vs. NBS) were significant independent factors associated with visual outcomes. This suggests that visual outcomes were improved by NBS, but there was still lower visual function with advancing age in both groups. Early diagnosis and treatment by NBS is associated with improved visual outcomes and retinal function compared to participants who presented symptomatically. Despite the impact of early intervention, chorioretinopathy was greater with advancing age, highlighting the need for novel treatments.

通过新生儿筛查(NBS)或家族史进行早期诊断和治疗可改善长链 3-羟基羧酸脱氢酶缺乏症(LCHADD)脉络膜视网膜病变的视觉预后
长链 3- 羟基乙酰-CoA 脱氢酶(LCHADD)是唯一一种会发展成进行性脉络膜视网膜病变并导致视力丧失的脂肪酸氧化紊乱疾病;美国于 2004 年左右开始对这种疾病进行新生儿筛查(NBS)。我们比较了 40 名经症状诊断患有 LCHADD 或三官能团蛋白缺乏症的参与者与通过 NBS 或家族史确诊的参与者的视力结果。参与者完成了眼科测试,包括视敏度、视网膜电图(ERG)、眼底成像、对比敏感度和视野测量。我们还查阅了病历,以记录医疗和治疗史。12 名参与者出现低血糖、发育不良、肝功能异常、心脏骤停或横纹肌溶解等症状。其中 28 人是通过 NBS 或家族史确诊为 LCHADD 的。通过症状确诊的患者年龄较大,但男性比例和基因型与通过 NBS 确诊的患者相似。治疗包括避免空腹、限制饮食中的长链脂肪、补充 MCT、C7 和/或肉碱。与 NBS 相比,被诊断出有症状的参与者的视敏度、ERG 上的杆状和锥状驱动振幅、对比敏感度评分和视野都明显较差。在混合效应模型中,年龄和表现(有症状与无症状)都是与视觉结果相关的重要独立因素。这表明,NBS 可以改善视觉效果,但随着年龄的增长,两组患者的视觉功能都会下降。与无症状患者相比,NBS 的早期诊断和治疗可改善患者的视觉效果和视网膜功能。尽管早期干预会产生影响,但随着年龄的增长,脉络膜视网膜病变的程度也会加重,这凸显了对新型治疗方法的需求。
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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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