NOD-m:一种预测遗传性代谢障碍患者听力损失的新型临床评分方法。

Merve Koç Yekedüz, İlayda Kütükkiran, İlknur Sürücü Kara, Mobin Shamsaee, Feyza Nur Irem Mengüç, Engin Köse, Fatma Tuba Eminoğlu
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引用次数: 0

摘要

目的:遗传性代谢疾病(IMD)是一种罕见的由代谢途径中断引起的遗传病,通常导致多系统并发症。听力损失(HL)是一种重要但未被充分认识的IMD表现。其患病率、亚型、发病时间和系统性关联仍不清楚。本研究旨在系统评估大量IMD患者中HL的患病率和特征,强调相关的临床和实验室结果。方法:对2012年6月至2024年1月诊断为IMD的996例患者进行回顾性分析。分析了人口统计学数据、疾病特异性特征、HL亚型、诊断时间和相关发现。描述性统计用于总结研究结果。结果:31例患者(3.1%)被诊断为听力损失,其中溶酶体贮积障碍(LSD, 30.3%)和线粒体疾病(MD, 25.8%)是最常见的诊断。其中男性19例(61.2%),平均年龄为73±49个月。最常见的HL类型为感音神经性HL。与HL (HL+)相关的最常见的系统性发现包括神经运动-认知延迟(87.1%)、器官肿大(51.6%)和畸形(41.9%),以及乳酸水平升高(38.7%)和代谢性酸中毒(35.5%)。听力损失患者最常见的表现是神经运动-认知延迟、器官肿大、畸形和代谢性酸中毒。基于这些特征的综合临床评分(NOD-m)在预测IMD患者的听力损失方面表现出良好的区分性能(AUC = 0.78)。“NOD-m”编码作为一种助记的临床结构,有助于听力损失患者早期识别imd。“NOD”反映了普遍的非语言交流,与听觉障碍的背景一致,而“m”表示代谢和代谢性酸中毒,这是这些疾病病理生理学的关键特征。结论:IMD患者的听力损失通常与独特的临床和代谢特征相关,可以指导早期识别。NOD-m评分可以作为一种实用的筛查辅助手段,提示HL患者进一步进行代谢评估。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
NOD-m: a novel clinical score for predicting hearing loss in inherited metabolic disorders.

Objectives: Inherited metabolic disorders (IMD) are rare genetic conditions resulting from disruptions in metabolic pathways, often leading to multisystemic complications. Hearing loss (HL) is a significant but under-recognized manifestation of IMD. Its prevalence, subtypes, timing, and systemic associations remain poorly characterized. This study aims to systematically evaluate the prevalence and characteristics of HL in a large cohort of patients with IMD, emphasizing associated clinical and laboratory findings.

Methods: A retrospective review was conducted on 996 patients diagnosed with IMD between June 2012 and January 2024. Data on demographics, disease-specific features, HL subtypes, timing of diagnosis, and associated findings were analyzed. Descriptive statistics were used to summarize the findings.

Results: Hearing loss was identified in 31 patients (3.1%), with lysosomal storage disorder (LSD, 30.3%) and mitochondrial disease (MD, 25.8%) being the most frequent diagnoses. Of these patients, 19 (61.2%) were male, and the mean age at the time of IMD diagnosis was 73 ± 49 months. The most common type of HL observed was sensorineural. Most common systemic findings associated with HL (HL+) included neuromotor-cognitive delay (87.1%), organomegaly (51.6%), and dysmorphism (41.9%), alongside elevated lactate levels (38.7%) and metabolic acidosis (35.5%). The most common findings in patients with hearing loss were neuromotor-cognitive delay, organomegaly, dysmorphism, and metabolic acidosis. A composite clinical score based on these features (NOD-m) demonstrated good discriminatory performance (AUC = 0.78) for predicting hearing loss in IMD patients. The "NOD-m" code serves as a mnemonic clinical construct to aid in the early recognition of IMDs in patients with hearing loss. "NOD" reflects universal nonverbal communication, aligning with the context of auditory impairment, while "m" denotes both metabolism and metabolic acidosis-key features in the pathophysiology of these disorders.

Conclusions: Hearing loss in IMD patients is frequently associated with distinct clinical and metabolic features that can guide early recognition. The NOD-m score may serve as a practical screening aid to prompt further metabolic evaluation in patients presenting with HL.

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