Long surviving classical Menkes disease treated with weekly intravenous copper therapy
| Autor: | Ryoko Nakamura, Toru Imagi, Ryutaro Kira, Pin Fee Chong, Kenichi Maeda, Reina Ogata, Nobuko Kawamura |
|---|---|
| Rok vydání: | 2019 |
| Předmět: |
Adult
Male medicine.medical_specialty Copper metabolism Central nervous system ATP7A 010501 environmental sciences 01 natural sciences Biochemistry Gastroenterology Drug Administration Schedule Nephrotoxicity Inorganic Chemistry Social life 03 medical and health sciences 0302 clinical medicine Internal medicine medicine Humans Menkes Kinky Hair Syndrome 0105 earth and related environmental sciences business.industry medicine.disease Molecular analysis medicine.anatomical_structure Deletion mutation Molecular Medicine Administration Intravenous Menkes disease business Copper 030217 neurology & neurosurgery |
| Zdroj: | Journal of Trace Elements in Medicine and Biology. 54:172-174 |
| ISSN: | 0946-672X |
| DOI: | 10.1016/j.jtemb.2019.04.020 |
| Popis: | Menkes diseases (MD) is an X-linked recessive neurodegenerative disorder of copper metabolism, characterized by progressive multisystemic involvement. Death in the early childhood is usually observed in classical patients. Although a definite cure has not been established, copper replacement therapy administered parenterally may modify the severity of MD and permitted survival into adolescence. Subcutaneous copper-histidine supplementation is the current choice of therapy, and long-term administration is not desirable because of the expected nephrotoxicity. We report here the case of a 29-year-old male with MD who tolerated long-term intravenous copper therapy initiated at 2 months. Molecular analysis revealed hemizygous deletion mutation of ATP7A previously reported in classical MD. Although neurodevelopement is poor, no major event of central nervous system is observed, and he enjoys a good social life by interacting using gestures. Optimum management is unknown, and closed follow-up is mandatory for clarification of this phenotype. |
| Databáze: | OpenAIRE |
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