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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| 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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I10-R327-article-42709 |
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ojs |
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Universidad Nacional de Córdoba |
| institution_str |
I-10 |
| repository_str |
R-327 |
| container_title_str |
Revista de la Facultad de Ciencias Médicas de Córdoba |
| format |
Artículo revista |
| topic |
Menkes disease orphan formulations rare disease copper enfermedad de Menkes formulaciones huérfanas enfermedades raras cobre |
| spellingShingle |
Menkes disease orphan formulations rare disease copper enfermedad de Menkes formulaciones huérfanas enfermedades raras cobre Bustos Fierro, C Guzmán, ML Freytes, FC Barbieri , F Luciani Giacobbe , LC Gavelli , ME Ocaña Carrizo , AV Olivera, ME Compounding Injectable copper histidinate for Menkes disease treatment. A case report |
| topic_facet |
Menkes disease orphan formulations rare disease copper enfermedad de Menkes formulaciones huérfanas enfermedades raras cobre |
| author |
Bustos Fierro, C Guzmán, ML Freytes, FC Barbieri , F Luciani Giacobbe , LC Gavelli , ME Ocaña Carrizo , AV Olivera, ME |
| author_facet |
Bustos Fierro, C Guzmán, ML Freytes, FC Barbieri , F Luciani Giacobbe , LC Gavelli , ME Ocaña Carrizo , AV Olivera, ME |
| author_sort |
Bustos Fierro, C |
| title |
Compounding Injectable copper histidinate for Menkes disease treatment. A case report |
| title_short |
Compounding Injectable copper histidinate for Menkes disease treatment. A case report |
| title_full |
Compounding Injectable copper histidinate for Menkes disease treatment. A case report |
| title_fullStr |
Compounding Injectable copper histidinate for Menkes disease treatment. A case report |
| title_full_unstemmed |
Compounding Injectable copper histidinate for Menkes disease treatment. A case report |
| title_sort |
compounding injectable copper histidinate for menkes disease treatment. a case report |
| description |
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. |
| publisher |
Universidad Nacional Córdoba. Facultad de Ciencias Médicas. Secretaria de Ciencia y Tecnología |
| publishDate |
2023 |
| url |
https://revistas.unc.edu.ar/index.php/med/article/view/42709 |
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2024-09-03T21:04:51Z |
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I10-R327-article-427092023-10-19T21:19:46Z Compounding Injectable copper histidinate for Menkes disease treatment. A case report Histidinato de cobre inyectable: elaboración magistral para la Enfermedad de Menkes. A propósito de un caso Bustos Fierro, C Guzmán, ML Freytes, FC Barbieri , F Luciani Giacobbe , LC Gavelli , ME Ocaña Carrizo , AV Olivera, ME Menkes disease orphan formulations rare disease copper enfermedad de Menkes formulaciones huérfanas enfermedades raras cobre 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. La enfermedad de Menkes (EM) es ultra rara y se caracteriza por ser un desorden neurodegenerativo, asociado a deficiencia de cobre por defecto en su absorción. Su clínica incluye anomalías esqueléticas, retraso mental grave, trombosis, hipotermia, anomalías arteriales y rasgos faciales característicos, justificados por la disminución de la actividad de las cuproenzimas. El dosaje de cobre y ceruloplasmina permiten diagnosticar la EM, siendo valores normales 65-165 ug/dl y 15-30 mg/dl respectivamente. Como tratamiento paliativo se utiliza histidinato de cobre inyectable (Hi-Cu/iny) por vía subcutánea. No existe registro sanitario del medicamento, debe elaborarse magistralmente. Se presentó un caso de un niño nacido el 27/07/2020 en Tucumán con 3,300 Kg diagnosticado a los 3 meses de vida con EM. Presentaba convulsiones, fenotipo particular y pelo ensortijado. A los 16 meses, pesaba 9,900 kg, presentaba hipotonía global sin control cefálico, rales gruesos, abdomen sin organomegalia, ausencia de reflejos, pili torti en cejas y ausencia de pelo en cabeza. El dosaje de cobre y ceruloplasmina fueron 27 ug/dl y 4,7 mg/dl respectivamente. En ese momento, se indica e inicia tratamiento con Hi-Cu/iny 50 ug/kg/día. Se desarrolló en consecuencia una formulación Hi-Cu/iny con estabilidad química y microbiológica optimizada, que se elaboró en una farmacia hospitalaria de la provincia de Córdoba, bajo un programa de garantía de calidad. Durante los 20 meses de tratamiento, los valores de cobre y ceruloplasmina fueron normales en todas las mediciones (a 1, 4, 10 y 15 meses). Con respecto a su evolución clínica, presenta signos favorables: síndrome convulsivo mejorado, pelo y piel normal (ausencia de ictiosis), erupción dentaria normal, mejorías en el tono y control cefálico no así en su peso. Además, se comunica con familiares transmitiendo sentimientos y preferencias. La dificultad de deglución persiste, por lo que se da alimentación por sonda. Como conclusiones, podemos afirmar que la disponibilidad de Hi-Cu/iny permitió brindar el único tratamiento disponible al paciente, con impactos significativos en su calidad de vida y en la de sus familiares. Universidad Nacional Córdoba. Facultad de Ciencias Médicas. Secretaria de Ciencia y Tecnología 2023-10-19 info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion https://revistas.unc.edu.ar/index.php/med/article/view/42709 Revista de la Facultad de Ciencias Médicas de Córdoba.; Vol. 80 (2023): Suplemento JIC XXIV Revista de la Facultad de Ciencias Médicas de Córdoba; Vol. 80 (2023): Suplemento JIC XXIV Revista da Faculdade de Ciências Médicas de Córdoba; v. 80 (2023): Suplemento JIC XXIV 1853-0605 0014-6722 Derechos de autor 2023 Universidad Nacional de Córdoba http://creativecommons.org/licenses/by-nc/4.0 |