Fujisawa Chie, Kodama Hiroko, Sato Yasuhiro, Mimaki Masakazu, Yagi Mariko, Awano Hiroyuki, Matsuo Muneaki, Shintaku Haruo, Yoshida Sayaka, Takayanagi Masaki, Kubota Mitsuru, Takahashi Akihito, Akasaka Yoshikiyo
Department of Pediatrics, School of Medicine, Teikyo University, Itabashi-ku, Tokyo 173-8606, Japan.
Department of Research Unit, Faculty of Medicine, Toho University, Ota-ku, Tokyo 143-8540, Japan.
Mol Genet Metab Rep. 2022 Feb 17;31:100849. doi: 10.1016/j.ymgmr.2022.100849. eCollection 2022 Jun.
Menkes disease (MD) is an X-linked recessive disorder caused by mutations in . 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.
门克斯病（MD）是一种由[基因名称]突变引起的X连锁隐性疾病。MD患者由于铜缺乏而表现出严重的神经和结缔组织紊乱，通常在3岁前死亡。在新生儿期出现神经症状之前进行铜注射早期治疗，可在一定程度上缓解神经功能障碍。我们研究了早期症状是否有助于MD的早期诊断。在69例患者中的20例、67例患者中的16例和18例患者中的3例新生儿期分别观察到毛发异常生长、黄疸持续时间延长和喂养困难。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例因有MD家族史而在产前阶段或出生后不久被诊断出的患者接受了早期治疗。未根据早期症状作出诊断，这突出了根据新生儿期观察到的症状诊断MD的困难。接受早期治疗的患者比患有MD的年长亲属寿命更长。3例患者能够行走且无癫痫发作。因此，应优先开展有效的MD新生儿筛查。
