Current status of hepatic glycogen storage disease in Japan: clinical manifestations, treatments and long-term outcomes
Current status of hepatic glycogen storage disease in Japan: clinical manifestations, treatments and long-term outcomes
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DOI：
10.1038/jhg.2013.17
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发表时间：
2013-05-01
影响因子：
3.5
通讯作者：
Endo, Fumio
中科院分区：
文献类型：
--
作者：
Kido, Jun;Nakamura, Kimitoshi;Endo, Fumio
国外已发表多篇关于肝糖原贮积病（GSD）的长期疗效和治疗的报告；然而，日本尚未出版任何作品。我们调查了 1999 年 1 月至 2009 年 12 月期间接受评估和治疗的 127 例肝脏 GSD 患者的临床表现、治疗和预后。在日本 GSD 患者中发现了一种特征性遗传模式：大多数 GSD Ia 患者具有 g727t 突变，许多 GSD Ib 患者具有 W118R 突变。年龄≥ 13 岁零 4 个月的 GSD Ia 患者中有 41% (14/34) 和 GSD Ib 患者中有 18% (2/11) 患有肝腺瘤。在 10 岁受试者中，19% (7/36) 的 GSD Ia 患者患有肾功能不全，而 GSD Ib 患者则无肾功能障碍。年龄≥ 18 岁的男性 GSD Ia 患者的平均身高为 160.8 +/- 10.6 cm (n = 14)，女性患者的平均身高为 147.8 +/- 3.80 cm (n = 9)。肝性 GSD 患者会出现多种症状，但通过饮食疗法、玉米淀粉治疗和支持治疗可以长期生存。肝移植是治疗肝GSD的重要治疗策略，有助于改善患者的生活质量。
Many reports have been published on the long-term outcome and treatment of hepatic glycogen storage diseases (GSDs) overseas; however, none have been published from Japan. We investigated the clinical manifestations, treatment, and prognosis of 127 hepatic GSD patients who were evaluated and treated between January 1999 and December 2009. A characteristic genetic pattern was noted in the Japanese GSD patients: most GSD Ia patients had the g727t mutation, and many GSD Ib patients had the W118R mutation. Forty-one percent (14/34) of GSD Ia patients and 18% (2/11) of GSD Ib patients of ages >= 13 years 4 months had liver adenoma. Among subjects aged 10 years, 19% (7/36) of the GSD Ia patients and none of the GSD Ib patients had renal dysfunction. The mean height of male GSD Ia patients aged >= 18 years was 160.8 +/- 10.6 cm (n = 14), and that of their female counterparts was 147.8 +/- 3.80cm (n = 9). Patients with hepatic GSDs develop a variety of symptoms but can survive in the long term by diet therapy, corn starch treatment and supportive care. Liver transplantation for hepatic GSDs is an important treatment strategy and can help improve the patients'quality of life.