Early clinical signs and treatment of Menkes disease.
Early clinical signs and treatment of Menkes disease.
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DOI：
10.1016/j.ymgmr.2022.100849
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发表时间：
2022-06
影响因子：
1.9
通讯作者：
Akasaka Y
中科院分区：
文献类型：
--
作者：
Fujisawa C;Kodama H;Sato Y;Mimaki M;Yagi M;Awano H;Matsuo M;Shintaku H;Yoshida S;Takayanagi M;Kubota M;Takahashi A;Akasaka Y
Menkes病（MD）是由ATP 7A突变引起的X连锁隐性遗传疾病。患有MD的患者由于铜缺乏而表现出严重的神经和结缔组织疾病，并且通常在3岁之前死亡。在新生儿期，在神经系统症状发生之前，早期注射铜治疗，可以在一定程度上减轻神经系统障碍。我们研究了早期症状是否有助于MD的早期诊断。69例患者中有20例、67例患者中有16例和18例患者中有3例在新生儿期出现毛发异常生长、黄疸延长和喂养困难。只有3例患者在新生儿期就诊;当时未作出MD诊断。诊断时的平均年龄为8.7个月。7例患者，谁是在产前阶段或出生后不久，因为他们有家族史的MD诊断，接受早期治疗。没有诊断的基础上的早期症状，突出了诊断MD的基础上观察到的症状在新生儿期的困难。接受早期治疗的患者比患有MD的老年亲属活得更长。三名患者可以行走，没有癫痫发作。因此，应优先考虑有效的新生儿MD筛查。
Menkes disease (MD) is an X-linked recessive disorder caused by mutations in ATP7A. Patients with MD exhibit severe neurological and connective tissue disorders due to copper deficiency and typically die before 3 years of age. Early treatment with copper injections during the neonatal period, before the occurrence of neurological symptoms, can alleviate neurological disturbances to some degree. We investigated whether early symptoms can help in the early diagnosis of MD. Abnormal hair growth, prolonged jaundice, and feeding difficulties were observed during the neonatal period in 20 of 69, 16 of 67, and 3 of 18 patients, respectively. Only three patients visited a physician during the neonatal period; MD diagnosis was not made at that point. The mean age at diagnosis was 8.7 months. Seven patients, who were diagnosed in the prenatal stage or soon after birth, as they had a family history of MD, received early treatment. No diagnosis was made based on early symptoms, highlighting the difficulty in diagnosing MD based on symptoms observed during the neonatal period. Patients who received early treatment lived longer than their elderly relatives with MD. Three patients could walk and did not have seizures. Therefore, effective newborn screening for MD should be prioritized.
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影响因子：
4.2
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通讯作者：
Ozawa, H
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