A survey of Japanese patients with Menkes disease from 1990 to 2003: Incidence and early signs before typical symptomatic onset, pointing the way to earlier diagnosis
A survey of Japanese patients with Menkes disease from 1990 to 2003: Incidence and early signs before typical symptomatic onset, pointing the way to earlier diagnosis
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DOI：
10.1007/s10545-005-0473-3
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发表时间：
2005-08-01
影响因子：
4.2
通讯作者：
Ozawa, H
中科院分区：
文献类型：
--
作者：
Gu, Y;Kodama, H;Ozawa, H
Menkes病（MNK）是一种以神经退行性症状和结缔组织紊乱为主的致死性、X连锁隐性铜代谢障碍。MNK在亚洲的发病率尚不清楚。如果不进行适当治疗，大多数患者在3岁时死亡。早期肠外给予铜可预防神经功能障碍，并导致更好的结果。在本研究中，对日本的MNK进行了调查。从1990年至2003年，共收集了53例活产日本MNK患者，包括2例女性。1992年至2002年期间，活产MNK患者的发病率为每百万活产2.8例（95%置信区间（CI）：1.8至3.7），每百万男性活产4.9例（95% CI：3.2至6.6）。三分之一的患者出生在37周之前或体重低于2500 g。17%的婴儿出生在妊娠37周之前，体重不足2 500克。根据全国范围的估计，这些比例高于日本活产婴儿的比例。这些日本患者的头发不仅是白色或灰色，而且还有棕色和金色。我们还发现，在患者被带到具有典型症状的医院之前，已经注意到许多迹象。这些体征可作为MNK早期诊断的线索。
Menkes disease (MNK) is a lethal, X-linked recessive disorder of copper metabolism dominated by neurodegenerative symptoms and connective tissue disturbances. The incidence of MNK in Asia is not known. Most patients die by the age of 3 years if adequate treatment is not carried out. Early parenteral administration of copper can prevent the neurological disturbances and lead to a better outcome. In the present study, a survey on MNK in Japan was performed. There were in total 53 live-born Japanese patients with MNK collected from 1990 to 2003, including two females. The incidence of live-born MNK patients between 1992 and 2002 was 2.8 per million live births (95% confidence interval (CI): 1.8 to 3.7), 4.9 per million male live births (95% CI: 3.2 to 6.6). One-third of the patients were born before 37 weeks or weighing less than 2500 g. Seventeen per cent were born both before 37 gestational weeks and weighing less than 2500 g. These proportions were higher than those in Japanese live-birth babies according to a nationwide estimate. The hair on these Japanese patients appeared not only as white or grey but also brown and blond. We also found that many signs had been noted before the patient was brought to a hospital with typical symptoms. These signs may be a clue to early diagnosis of MNK.