Current status of surviving patients with arginase 1 deficiency in Japan.
Current status of surviving patients with arginase 1 deficiency in Japan.
复制标题
日本存活的精氨酸酶1缺乏症患者的现状。
DOI：
10.1016/j.ymgmr.2021.100805
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发表时间：
2021-12
影响因子：
1.9
通讯作者：
Nakamura K
中科院分区：
文献类型：
--
作者：
Kido J;Matsumoto S;Takeshita E;Hayasaka C;Yamada K;Kagawa J;Nakajima Y;Ito T;Iijima H;Endo F;Nakamura K
精氨酸酶1（ARG 1）缺乏症是一种罕见的尿素循环障碍（UCD），在日本估计频率为每2，200，000名新生儿中有1名。ARG 1缺乏症患者在婴儿晚期或学龄前出现症状，伴有进行性神经系统表现，有时出现严重的肝脏疾病。我们之前调查了日本UCD的状况;然而，只有一名患者被确定为ARG 1缺乏症。因此，我们的目的是调查2018-2021年ARG 1缺乏症患者的现状，因为自上次研究以来已经过去了近10年。我们提出的病史，临床结果和治疗的五个存活的ARG 1缺乏症患者，并讨论了ARG 1缺乏症在日本的特点。我们发现，临床医生往往面临困难，在发病早期诊断ARG 1缺乏症，因为患者之间的发病时间和临床表现的差异。血中L-精氨酸和胍基化合物被认为是导致不良神经发育结局的主要因素。因此，ARG 1缺乏的早期检测和干预对于改善神经发育结果至关重要。肝移植被认为是一种有效的治疗选择，可以显着改善患者的生活质量，在ARG 1缺乏引起的症状的神经表现之前。
Arginase 1 (ARG1) deficiency is a rare urea cycle disorder (UCD), with an estimated frequency of 1 per 2,200,000 births in Japan. Patients with ARG1 deficiency develop symptoms in late infancy or pre-school age with progressive neurological manifestations and sometimes present with severe hepatic disease. We previously investigated the status of UCDs in Japan; however, only one patient was identified as having ARG1 deficiency. Therefore, we aimed to investigate the current status of patients with ARG1 deficiency in 2018–2021 because almost 10 years have passed since the previous study. We present the disease history, clinical outcome, and treatment of five surviving patients with ARG1 deficiency and discuss the features of ARG1 deficiency in Japan. We found that clinicians often face difficulty in diagnosing ARG1 deficiency at the early stage of onset because of interpatient variability in onset time and clinical manifestations. Blood L-arginine and guanidino compounds were considered to be the major factors causing adverse neurodevelopmental outcomes. Therefore, early detection and intervention of ARG1 deficiency is essential for improved neurodevelopmental outcomes. Liver transplantation has been considered an effective treatment option that can dramatically improve the quality of life of patients, prior to the neurological manifestation of symptoms caused by ARG1 deficiency.
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影响因子：
4.2
作者：
Kido, Jun;Nakamura, Kimitoshi;Endo, Fumio
通讯作者：
Endo, Fumio
DOI：
10.1097/00005176-199702000-00018
发表时间：
1997-02-01
影响因子：
2.9
作者：
Braga, AC;Vilarinho, L;Rocha, H
通讯作者：
Rocha, H
DOI：
10.1002/ajmg.c.30091
发表时间：
2006-05-15
影响因子：
3.1
作者：
Scaglia, F;Lee, B
通讯作者：
Lee, B
影响因子：
3.8
作者：
Batshaw, Mark L.;Tuchman, Mendel;Summar, Marshall;Seminara, Jennifer
通讯作者：
Seminara, Jennifer
208例非经典尿素周期疾病患者的横断面观察性研究。
影响因子：
4.2
作者：
Rueegger, Corinne M.;Lindner, Martin;Ballhausen, Diana;Baumgartner, Matthias R.;Beblo, Skadi;Das, Anibh;Gautschi, Matthias;Glahn, Esther M.;Gruenert, Sarah C.;Hennermann, Julia;Hochuli, Michel;Huemer, Martina;Karall, Daniela;Koelker, Stefan;Lachmann, Robin H.;Lotz-Havla, Amelie;Moeslinger, Dorothea;Nuoffer, Jean-Marc;Plecko, Barbara;Rutsch, Frank;Santer, Rene;Spiekerkoetter, Ute;Staufner, Christian;Stricker, Tamar;Wijburg, Frits A.;Williams, Monique;Burgard, Peter;Haeberle, Johannes
通讯作者：
Haeberle, Johannes