دورية أكاديمية
Early clinical signs and treatment of Menkes disease
| العنوان: | Early clinical signs and treatment of Menkes disease |
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| المؤلفون: | Chie Fujisawa, Hiroko Kodama, Yasuhiro Sato, Masakazu Mimaki, Mariko Yagi, Hiroyuki Awano, Muneaki Matsuo, Haruo Shintaku, Sayaka Yoshida, Masaki Takayanagi, Mitsuru Kubota, Akihito Takahashi, Yoshikiyo Akasaka |
| المصدر: | Molecular Genetics and Metabolism Reports, Vol 31, Iss , Pp 100849- (2022) |
| بيانات النشر: | Elsevier, 2022. |
| سنة النشر: | 2022 |
| المجموعة: | LCC:Medicine (General) LCC:Biology (General) |
| مصطلحات موضوعية: | Menkes disease, Early treatment, Early symptom, Prognosis, Medicine (General), R5-920, Biology (General), QH301-705.5 |
| الوصف: | 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. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 2214-4269 |
| العلاقة: | http://www.sciencedirect.com/science/article/pii/S221442692200009XTest; https://doaj.org/toc/2214-4269Test |
| DOI: | 10.1016/j.ymgmr.2022.100849 |
| الوصول الحر: | https://doaj.org/article/f8c4161e9892446a81dc2393c238b3f6Test |
| رقم الانضمام: | edsdoj.f8c4161e9892446a81dc2393c238b3f6 |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 22144269 |
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| DOI: | 10.1016/j.ymgmr.2022.100849 |