Compounding Injectable copper histidinate for Menkes disease treatment. A case report
Menkes disease (EM) is a neurodegenerative rare disease characterized by a copper deficiency that affects its absorption. The symptoms, caused by a decrease of/in cuproenzymes activity, includes skeletal and arterial abnormalities, severe mental retardation, thrombosis, hypothermia and characteristi...
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| Autores principales: | , , , , , , , |
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| Formato: | Artículo revista |
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Universidad Nacional Córdoba. Facultad de Ciencias Médicas. Secretaria de Ciencia y Tecnología
2023
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| Acceso en línea: | https://revistas.unc.edu.ar/index.php/med/article/view/42709 |
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| Sumario: | Menkes disease (EM) is a neurodegenerative rare disease characterized by a copper deficiency that affects its absorption. The symptoms, caused by a decrease of/in cuproenzymes activity, includes skeletal and arterial abnormalities, severe mental retardation, thrombosis, hypothermia and characteristic facial features. Copper and ceruloplasmin blood levels allow diagnosing MD. Normal values are 65-165 ug/dl y 15-30 mg/dl respectively. Subcutaneous injectable copper histidinate (Hi-Cu/iny) is used as a palliative treatment. There is no sanitary registration of the drug/medicine so it must be obtained by compounding.
In Tucumán on 27th july 2020 a male child was born with 3.3 kg of weight. He had seizures, and kinky hair. At 3 months old he was EM diagnosed. At 16 months, he presented global hypotonia without head control, thick rales, abdomen without organomegaly, absence of reflexes, pili torti on the eyebrows, and no head hair . The copper and ceruloplasmin dosages were 27 ug/dl and 4.7 mg/dl respectively. At that time, treatment with Hi-Cu/iny 50 ug/kg/day was indicated. Consequently, a Hi-Cu/iny formulation with optimized chemical and microbiological stability was developed and prepared in a hospital pharmacy in Córdoba, under a quality assurance program. The objective of this work was to show clinical and biochemical results after this patient receives treatment with Hi-Cu/iny. During the treatment, copper and ceruloplasmin values were normal in all measurements (at 1, 4, 10, and 15 months). Regarding the clinical evolution, the patient presented favorable signs: improved convulsive syndrome, normal hair and skin (absence of ichthyosis), normal dental eruption and improvements in the tone and head control, however, he did not show improved weight. In addition, he showed favorable communicative characteristics transmitting feelings and preferences.
As conclusions, we can state that the availability of Hi-Cu/iny made it possible to provide the only one available treatment to the patient, with significant impacts on his quality of life. |
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