儿童polg相关疾病：关注多神经根神经病变

IF 3.5 2区生物学 Q2 ENDOCRINOLOGY & METABOLISM

Molecular genetics and metabolism Pub Date : 2025-07-30 DOI:10.1016/j.ymgme.2025.109213

Claire-Marine Bérat , Marie Hully , Agnès Rötig , Giulia Barcia , Zahra Assouline , Marie-Thérèse Abi-Warde , Christine Barnerias , Elise Payen , Marianne Jaroussie , Pauline Gaignard , Elise Lebigot , Agathe Roubertie , Nathalie Boddaert , Charles-Joris Roux , Pascale de Lonlay , Isabelle Desguerre , Arnold Munnich , Manuel Schiff , Cyril Gitiaux

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引用次数: 0

摘要

POLG的致病变异涉及广泛的神经、胃肠和肝脏损伤。患有polg相关疾病的儿童很少表现为周围神经病变，后者在成人中最常被描述为轴索多发性神经病。我们的目的是关注受polg相关障碍影响的幼儿的电生理结果。我们在此报告6例不相关的早发性POLG患者，表现为非典型和严重的多根神经病变，类似慢性炎症性脱髓鞘性多神经病变（CIDP）。所有这些患者还表现出严重的肠道蠕动障碍和肝脏疾病。在POLG中发现不同的复合杂合致病变异，4/6患者具有相同的杂合R232H变异。因此，在伴有胃肠和肝脏损害的非典型儿童期发病的CIDP中，应考虑polg相关疾病。

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Childhood POLG-related disorders: Focus on polyradiculoneuropathy

Pathogenic variants in POLG are involved in a large spectrum of neurological, gastrointestinal and liver impairments. Children affected with POLG-related disorders rarely exhibit peripheral neuropathy, the latter being most often described in adults as axonal polyneuropathy. Our aim was to focus on electrophysiological findings in young children affected with POLG-related disorder.

We report herein 6 unrelated early-onset POLG patients presenting with an atypical and severe polyradiculoneuropathy mimicking Chronic Inflammatory Demyelinating Polyneuropathy (CIDP). All these patients also exhibited severe intestinal dysmotility and liver disease. Different compound heterozygous pathogenic variants in POLG were found and 4/6 patients shared the same heterozygous R232H variation. POLG-related disorders should therefore be considered in the setting of atypical childhood onset CIDP with gastrointestinal and liver impairments.

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来源期刊

Molecular genetics and metabolism 生物-生化与分子生物学

CiteScore

5.90

自引率

7.90%

发文量

621

审稿时长

34 days

期刊介绍： Molecular Genetics and Metabolism contributes to the understanding of the metabolic and molecular basis of disease. This peer reviewed journal publishes articles describing investigations that use the tools of biochemical genetics and molecular genetics for studies of normal and disease states in humans and animal models.