Hypophosphatasia in children: Diagnostic problems and treatment prospects

Abstract

The paper gives up-to-date information on hypophosphatasia in children. It represents the results of genetic studies, the pathogene-sis, clinical manifestations, classification, treatment, and prevention of the disease. Particular emphasis is placed on whether clinical trials of novel biological agents for the pathogenetic therapy of hypophosphatasia (enzyme replacement therapy) may be conducted.

Keywords

• дети
• гипофосфатазия
• моногенные болезни
• щелочная фосфатаза
• патогенетическое лечение
• ферменто-заместителъная терапия
• асфотаза альфа