Prevalence of patients with lysosomal storage disorders and peroxisomal disorders: A nationwide survey in Japan
Prevalence of patients with lysosomal storage disorders and peroxisomal disorders: A nationwide survey in Japan
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DOI：
10.1016/j.ymgme.2021.05.004
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发表时间：
2021-06-18
影响因子：
3.8
通讯作者：
Eto, Yoshikatsu
中科院分区：
文献类型：
--
作者：
Koto, Yuta;Sakai, Norio;Eto, Yoshikatsu
简介：溶酶体贮积症和过氧化物酶体疾病是分别由溶酶体和过氧化物酶体内代谢途径底物积累引起的罕见疾病。由于这些疾病罕见，溶酶体贮积症和过氧化物酶体疾病在日本的患病率尚不清楚。因此，我们进行了一项全国范围的调查，以估算日本溶酶体贮积症和过氧化物酶体疾病的患者人数。方法：按照《全国罕见病流行病学调查人数及临床流行病学调查手册（第三版）》进行全国调查。我们制作了一份调查问卷，询问疾病表型和病史等详细信息，并将其发送给拥有治疗溶酶体贮积症和过氧化物酶体疾病患者经验的医生的 504 个机构。结果 共回收504家机构303份完整问卷（回收率60.1%）。通过计算重叠率/频率来估计患者数量。法布里病的估计患者人数为 1658 (+/- 264.8)，粘多糖贮积症 I 为 72 (+/- 11.3)，粘多糖贮积症 II 为 275 (+/- 49.9)，戈谢病为 211 (+/- 31.3)，庞贝病为 124 (+/- 25.8)，83 (+/- 44.3)异染性脑白质营养不良为 57 (+/- 9.4)，尼曼-匹克 C 型为 57 (+/- 9.4)，肾上腺脑白质营养不良为 262 (+/- 42.3)。此外，使用每种疾病的估计患者人数和出生年份数据计算出生患病率，法布里病为 1.25，粘多糖贮积症 I 为 0.09，粘多糖贮积症 II 为 0.38，戈谢病为 0.19，庞贝病为 0.14，异染性脑白质营养不良为 0.16，尼曼-匹克型为 0.16 C，肾上腺脑白质营养不良为 0.20。讨论：在分析的疾病中，患病率最高的疾病是法布里病，其次是粘多糖贮积症II、肾上腺脑白质营养不良、戈谢病和异染性脑白质营养不良。特别是粘多糖贮积症II型和戈谢病II型的高患病率是日本的一个特点。结论：我们估计了日本患有溶酶体贮积症和过氧化物酶体疾病的患者人数。明确了每种疾病的诊断年龄和治疗方法的细节，这将是有用的
Introduction: Lysosomal storage disorders and peroxisomal disorders are rare diseases caused by the accumulation of substrates of the metabolic pathway within lysosomes and peroxisomes, respectively. Owing to the rarity of these diseases, the prevalence of lysosomal storage disorders and peroxisomal disorders in Japan is unknown. Therefore, we conducted a nationwide survey to estimate the number of patients with lysosomal storage disorders and peroxisomal disorders in Japan. Methods: A nationwide survey was conducted following the "Manual of nationwide epidemiological survey for understanding patient number and clinical epidemiology of rare diseases (3rd version)". A questionnaire asking for detailed information, such as disease phenotypes and medical history, was created and sent to 504 institutions with doctors who have experience in treating patients with lysosomal storage disorders and peroxisomal disorders. Result A total of 303 completed questionnaires were collected from 504 institutions (response rate: 60.1%). The number of patients was estimated by calculating the rate/frequency of overlap. The estimated number of patients was 1658 (+/- 264.8) for Fabry disease, 72 (+/- 11.3) for mucopolysaccharidosis I, 275 (+/- 49.9) for mucopolysaccharidosis II, 211 (+/- 31.3) for Gaucher disease, 124 (+/- 25.8) for Pompe disease, 83 (+/- 44.3) for metachromatic leukodystrophy, 57 (+/- 9.4) for Niemann-Pick type C, and 262 (+/- 42.3) for adrenoleukodystrophy. In addition the birth prevalence was calculated using the estimated number of patients and birth year data for each disease, and was 1.25 for Fabry disease, 0.09 for mucopolysaccharidosis I, 0.38 for mucopolysaccharidosis II, 0.19 for Gaucher disease, 0.14 for Pompe disease, 0.16 for metachromatic leukodystrophy, 0.16 for Niemann-Pick type C, and 0.20 for adrenoleukodystrophy. Discussion: Among the diseases analyzed, the disease with the highest prevalence was Fabry disease, followed by mucopolysaccharidosis II, adrenoleukodystrophy, Gaucher disease and metachromatic leukodystrophy. In particular, the high prevalence of mucopolysaccharidosis II and Gaucher disease type II was a feature characteristic of Japan. Conclusion: We estimated the number of patients with lysosomal storage disorders and peroxisomal disorders in Japan. The details of the age at diagnosis and treatment methods for each disease were clarified, and will be useful