Sleep Unit, Neurocenter of Southern Switzerland, Civic Hospital of Lugano (EOC), Faculty of Biomedical Sciences, University of Southern Switzerland, Lugano, Switzerland.
Faculty of Biomedical Sciences, Università della Svizzera Italiana, Lugano, Switzerland.
J Clin Sleep Med. 2023 Dec 1;19(12):2053-2057. doi: 10.5664/jcsm.10748.
We report data collected from 2 reference European sleep centers on a series of patients with narcolepsy with hypocretin-1 deficiency and absence of the human leukocyte antigens (HLA) DQB1*06:02 allele.
Clinical data, HLA DQ markers, and cerebrospinal fluid assessments were collected retrospectively from Caucasian patients with a diagnosis of narcolepsy type 1 with cerebrospinal fluid hypocretin-1 deficiency (< 110 pg/ml) and absence of the HLA DQB1*06:02 allele, with follow-up with at least 1 visit within the last 4 years, consecutively admitted to 2 European sleep centers (Lugano, Switzerland and Montpellier, France).
Seven patients (3 of 29 patients in Lugano and 4 of 328 in Montpellier) were diagnosed with narcolepsy with hypocretin-1 deficiency and absence of HLA DQB106:02 (ie, 2% of patients with narcolepsy type 1). Regarding the HLA-DQB1 genotyping, 4 cases were positive for HLA DQB103:01, 1 for DQB103:02, and 3 for DQB102:01. Three patients had atypical cataplexy and 1 had no cataplexy. Only 2 patients had both a mean sleep latency of less than 8 minutes and more than 2 sleep onset rapid eye movement periods on the Multiple Sleep Latency Test, indicative of a less severe condition.
Although rare, this series of 7 cases confirms that hypocretin-deficient narcolepsy should not be excluded in the absence of HLA DQB106:02, especially if patients are carriers of other high-risk HLA-DQB1 alleles (DQB103:01, *03:02, *02:01). These data support the hypothesis that narcolepsy type 1 is a wider disease spectrum linked to the loss of hypocretin peptide.
Miano S, Barateau L, De Pieri M, et al. A series of 7 cases of patients with narcolepsy with hypocretin deficiency without the HLA DQB1*06:02 allele. . 2023;19(12):2053-2057.
我们报告了两个欧洲参考睡眠中心收集的一系列伴有下丘脑分泌素-1 缺乏和人类白细胞抗原（HLA）DQB1*06:02 等位基因缺失的发作性睡病患者的数据。
回顾性收集白人发作性睡病 1 型患者的临床数据、HLA-DQ 标志物和脑脊液评估结果，这些患者的诊断基于脑脊液下丘脑分泌素-1 缺乏（<110pg/ml）和 HLA DQB1*06:02 等位基因缺失，随访至少 1 次，且在过去 4 年内连续入住 2 个欧洲睡眠中心（瑞士卢加诺和法国蒙彼利埃）。
7 例患者（卢加诺 29 例患者中的 3 例和蒙彼利埃 328 例患者中的 4 例）被诊断为伴有下丘脑分泌素-1 缺乏和 HLA DQB106:02 缺失的发作性睡病（即，1 型发作性睡病患者的 2%）。关于 HLA-DQB1 基因分型，4 例为 HLA DQB103:01 阳性，1 例为 DQB103:02，3 例为 DQB102:01。3 例患者有不典型猝倒，1 例无猝倒。只有 2 例患者在多次睡眠潜伏期试验中平均睡眠潜伏期小于 8 分钟且有超过 2 次睡眠起始快速眼动期，提示病情较轻。
尽管罕见，但这一系列 7 例病例证实，在缺乏 HLA DQB106:02 的情况下，不应排除下丘脑分泌素缺乏性发作性睡病，尤其是患者携带其他高危 HLA-DQB1 等位基因（DQB103:01、*03:02、*02:01）时。这些数据支持以下假说，即 1 型发作性睡病是一种与下丘脑分泌素肽缺失相关的更广泛的疾病谱。
Miano S, Barateau L, De Pieri M, et al. A series of 7 cases of patients with narcolepsy with hypocretin deficiency without the HLA DQB1*06:02 allele.. 2023;19(12):2053-2057.
