Редкое генетическое заболевание костей и зубов требует ранней диагностики для предотвращения осложнений

Bratislava/Vienna, Aug. 13 (SANA) Early diagnosis of a rare inherited disorder that weakens bones and teeth could help improve treatment and reduce complications, according to a new study of patients across five European countries. Researchers from Comenius University in Slovakia and the Ludwig Boltzmann Institute of Osteology in Vienna reviewed the medical records of 34 patients with the condition, U.S. science website Knowridge reported Wednesday. The disorder is caused by mutations in the ALPL gene, which affects production of alkaline phosphatase, an enzyme essential for the normal development and mineralization of bones and teeth. More than two-thirds of the patients experienced chronic pain and half suffered fractures, while only one was receiving an available effective treatment, the study found. Symptoms vary with age and severity. Children can develop skeletal abnormalities and lose teeth prematurely, while adults more commonly experience pain affecting the bones, joints and muscles. Researchers also found respiratory problems in about one-third of patients and kidney stones in more than 10%, underscoring the range of symptoms associated with the condition. The researchers said persistently low levels of alkaline phosphatase detected in routine blood tests, particularly when accompanied by unexplained fractures or bone pain, should prompt doctors to consider the disorder and conduct further testing. Earlier recognition could allow treatment to begin sooner and help limit complications, the study said, highlighting the importance of considering the disease in patients with otherwise unexplained bone and dental symptoms. I.Z/A