Clin Osteol 2025; 30(1): 48-53

Hypophosphatasia -⁠ Standard Diagnostic and Therapeutic GuidlineReview articles

Kužma Martin1, Tichá Ubica2, Kokavec Milan3, Payer Juraj1
1 V. interná klinika LF UK a UNB, Bratislava
2 Detská klinika LF UK a NÚDCH, Bratislava
3 Ortopedická klinika LF UK a NÚDCH, Bratislava

Hypophosphatasia (HPP) is a rare hereditary disease with a variable course, caused by mutations in the ALPL gene encoding tissue-nonspecific alkaline phosphatase (TNSALP). It is characterized by impaired bone and tooth mineralization, growth and mobility disorders, premature tooth loss, respiratory issues, and seizures. Diagnosis is based on low ALP activity and elevated levels of its substrates. Early diagnosis is crucial, as improper treatment can worsen the patient's condition. Molecular genetics can confirm the diagnosis, though it is not always necessary. Treatment includes enzyme replacement therapy and symptomatic care to manage complications.

Keywords: alkaline phosphatase, ALPL gene, asfotase alpha.

Published: March 1, 2025  Show citation

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Kužma M, Ubica T, Kokavec M, Payer J. Hypophosphatasia -⁠ Standard Diagnostic and Therapeutic Guidline. Clinical Osteology. 2025;30(1):48-53.
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