| چکیده انگلیسی مقاله |
Background: Hypophosphatasia (HPP) is a rare, inherited metabolic disorder caused by mutations in the gene responsible for producing the tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP). The clinical spectrum of HPP ranges from severe, life-threatening forms in infants to milder forms in adults, primarily affecting dental health and bone integrity.
Objectives: This review aims to summarize the clinical manifestations and genetic underpinnings of HPP, discuss the diagnostic methodologies used to identify HPP and, highlight the therapeutic interventions available, with a focus on recent advancements.
Results: The review synthesizes information from clinical observations, radiographic findings, laboratory tests, and genetic screenings. It also evaluates recent literature on the pathophysiology and treatment of HPP, particularly the use of Asfotase alfa.
Discussion and Conclusion: Despite the existence of clear clinical markers, HPP often remains unrecognized for extended periods. Treatments like Asfotase alfa have significantly improved outcomes for severe cases in infants, children, and adults. However, questions about the optimal duration of treatment remain. Recent advancements have enhanced the understanding of HPP’s pathophysiology, particularly the role of persistently low serum alkaline phosphatase (AP) levels. Increased vigilance among healthcare professionals, including dentists, orthopedic surgeons, and rheumatologists, is crucial for timely diagnosis and management of HPP. The past decade has seen significant progress in understanding and treating HPP, offering new avenues for its management. This review encapsulates these advancements, providing a comprehensive overview of the evolving comprehension and approach towards this complex metabolic disorder. |
| نویسندگان مقاله |
| Roshanak Shams
Department of Orthopedics, Bone and Joint Reconstruction Research Center, School of Medicine, Iran University of Medical Sciences, Tehran, Iran.
| Mozhdeh Zabihiyeganeh
Department of Orthopedics, Bone and Joint Reconstruction Research Center, School of Medicine, Iran University of Medical Sciences, Tehran, Iran.
| Amir Aminian
Department of Orthopedics, Bone and Joint Reconstruction Research Center, School of Medicine, Iran University of Medical Sciences, Tehran, Iran.
| Mahmoodreza Sarikhani
Department of Orthopedics, Bone and Joint Reconstruction Research Center, School of Medicine, Iran University of Medical Sciences, Tehran, Iran.
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