Hypophosphatasia – Standard Diagnostic and Therapeutic Guidline
Authors:
Kužma Martin 1; Tichá Ubica 2; Kokavec Milan 3; Payer Juraj 1
Authors‘ workplace:
V. interná klinika LF UK a UNB, Bratislava
1; Detská klinika LF UK a NÚDCH, Bratislava
2; Ortopedická klinika LF UK a NÚDCH, Bratislava
3
Published in:
Clinical Osteology 2025; 30(1): 48-53
Category:
Overview
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.
Sources
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Clinical biochemistry Paediatric gynaecology Paediatric radiology Paediatric rheumatology Endocrinology Gynaecology and obstetrics Internal medicine Orthopaedics General practitioner for adults Radiodiagnostics Rehabilitation Rheumatology Traumatology OsteologyArticle was published in
Clinical Osteology
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