A systematic review and evidence-based guideline for diagnosis and treatment of Menkes disease.
Mol Genet Metab
; 126(1): 6-13, 2019 01.
Article
em En
| MEDLINE
| ID: mdl-30594472
ABSTRACT
Menkes disease is a rare X-linked neurodegenerative disorder caused by defect in copper metabolism. Parenteral copper supplementation has been used as a potential disease-modifying treatment of Menkes disease for decades. However, recent evidence suggests its efficacy only when treatment is started within days after birth, which also has important implications related to the techniques that enable early diagnosis. We aim at proposing a guideline for prenatal and neonatal diagnosis and for disease-modifying treatment of Menkes disease, guided by a systematic review of the literature, and built in conjunction with medical experts, methodologists and patient representatives. Thirteen articles were used for our recommendations that were based on GRADE system. Reviewed evidence suggests that prenatal genetic diagnosis in families with previous diagnosis of Menkes disease is feasible; analysis of plasma catecholamine levels is accurate for neonatal diagnosis of Menkes disease; treatment with copper-histidine is effective to increase survival and reduce neurologic burden of the disease if initiated in the neonatal period; and, treatment indication should not be guided by patient's genotype. In conclusion, our guideline can contribute to standardize some aspects of the clinical care of patients with Menkes disease, especially reducing disease burden and mortality and providers' and families' anxiety.
Palavras-chave
Texto completo:
1
Bases de dados:
MEDLINE
Assunto principal:
Diagnóstico Pré-Natal
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Guias de Prática Clínica como Assunto
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Cobre
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Síndrome dos Cabelos Torcidos
Tipo de estudo:
Diagnostic_studies
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Guideline
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Screening_studies
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Systematic_reviews
Limite:
Female
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Humans
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Male
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Pregnancy
Idioma:
En
Revista:
Mol Genet Metab
Assunto da revista:
BIOLOGIA MOLECULAR
/
BIOQUIMICA
/
METABOLISMO
Ano de publicação:
2019
Tipo de documento:
Article
País de afiliação:
Estados Unidos