Childhood hypophosphatasia: to treat or not to treat

Orphanet Journal of Rare Diseases
Eric T Rush

Abstract

Hypophosphatasia (HPP) is a rare inborn error of metabolism that results from dysfunction of the tissue non-specific alkaline phosphatase enzyme. Its manifestations are extremely variable, ranging from early lethality to disease limited to the dentition. The disease is life-threatening when manifesting within the first six months of life, excepting the extremely rare benign perinatal hypophosphatasia. Childhood hypophosphatasia, defined as onset of symptoms between six months and eighteen years, can manifest as rickets, pain, decreased mobility, deficits of growth, and fractures. Historical treatment has generally involved a combination of dietary and rehabilitative interventions. Asfotase alfa (Strensiq™), is a first-in-class bone-targeted recombinant tissue nonspecific alkaline phosphatase which has shown significant improvements in morbidity and mortality in patients with perinatal and infantile hypophosphatasia. Subsequent research has also shown improvements in morbidity for patients with childhood hypophosphatasia as measured by improvement in rickets, growth, strength, mobility, and quality of life. This enzyme replacement therapy has generally been well-tolerated, with most adverse reactions being mild-to-moderate in na...Continue Reading

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Citations

Apr 27, 2019·Orphanet Journal of Rare Diseases·Shelagh M SzaboGabriel Ángel Martos-Moreno
May 2, 2021·Journal of Clinical Pathology·Jonathan Samuel FennIngrid Borovickova

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Methods Mentioned

BETA
enzyme replacement therapy

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