New progress in treatment of hypophosphatasia / 中华实用儿科临床杂志

ABSTRACT

Hypophosphatasia (HPP) is caused by loss-of-function mutation(s) of the gene that encodes the tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP). Its manifestations are variable, including impaired skeletal mineralization, altered calcium and phosphate metabolism, recurrent fractures, pain, impaired mobility, premature tooth loss, developmental delay, and seizures.There are different attempts for HPP.Asfotase alfa (Strensiq?), is a bone-targeted recombinant TNSALP which has shown significant improvements in morbidity and mortality in patients with perinatal and infantile hypophosphatasia, and it can improve growth, mobility function and quality of life.This enzyme replacement therapy has generally been well-tolerated, with most adverse reactions being mild-to-moderate in nature.This article reviews recent advances in the treatment of the disease.