[Hypophosphatasia : What is currently available for treatment?] / Hypophosphatasie : Was ist gesichert in der Therapie?
Internist (Berl)
; 57(12): 1145-1154, 2016 Dec.
Article
em De
| MEDLINE
| ID: mdl-27796472
This review presents the current knowledge on the diagnosis and treatment of hypophosphatasia, a rare genetic disease, caused by mutations in the tissue non-specific alkaline phosphatase (TNSALP) gene. The clinical spectrum of hypophosphatasia is highly variable ranging from lethal infantile forms to mild forms diagnosed in adults. Although the disease rarely occurs, correct diagnosis is important to provide appropriate treatment and to avoid worsening by use of harmful drugs such as bisphosphonates. Low serum values of alkaline phosphatase (ALP) is the main feature of HPP, but by itself not sufficient for diagnosis, as it can occur under different conditions. Diagnosis can be established by the combination of reduced levels of ALP, elevated ALP substrates (PLP, PEA, PPi) and typical symptoms and can be confirmed by genetic testing of ALPL mutations. Enzyme replacement therapy is now available for affected patients with onset of the disease during childhood and adolescence. Early results of enzyme replacement therapy are encouraging. However, a multidisciplinary approach remains the core of the treatment including nutritional support, monitoring of vitamin D, calcium and phosphate levels, physical therapy and regular dental care.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Fosfatase Alcalina
/
Terapia por Exercício
/
Terapia de Reposição de Enzimas
/
Hipofosfatasia
Tipo de estudo:
Prognostic_studies
Limite:
Humans
Idioma:
De
Ano de publicação:
2016
Tipo de documento:
Article