Hypophosphatasia:A case report  

作　　者：Angad Singh Gill Pallavi Sharma Mahmoud Nassar Erlin Marte 

机构地区：[1]Department of Medicine,Division of Endocrinology,Diabetes and Metabolism,Jacobs School of Medicine and Biomedical Sciences,University at Buffalo,Buffalo,NY 14221,United States [2]Department of Research,American Society for Inclusion,Diversity,and Equity in Healthcare,Lewes,DE 19958,United States [3]Department of Endocrinology,Buffalo Veterans Affairs Medical Center,Buffalo,NY 14215,United States

出　　处：《World Journal of Clinical Cases》2025年第21期71-77,共7页世界临床病例杂志(英文)

摘　　要：BACKGROUND Hypophosphatasia(HPP)is a rare metabolic disorder caused by low tissue-nonspecific alkaline phosphatase(ALP)activity,presenting symptoms from bone demineralization to tooth loss.It affects multiple systems and is diagnosed based on clinical symptoms,radiological findings,and lab tests.This case report empha-sizes considering HPP in patients with unexplained bone pain and low ALP levels,especially with underlying osteopenia or osteoporosis.It highlights the importance of genetic testing and counseling for early diagnosis and treatment,aiming to raise clinician awareness.CASE SUMMARY We present a case of a 65-year-old female patient who was referred to our endoc-rinology clinic for complaints of generalized bone pain and hypothyroidism.Initial evaluation revealed osteopenia,managed with calcium and vitamin D supplementation.Persistently low ALP levels and elevated vitamin B6 levels led to the diagnosis of HPP,confirmed by genetic testing identifying a pathogenic ALPL gene variant[c.119C>T(p.Ala40Val)].Despite conservative treatment,her bone density declined,although remaining in the osteopenic range.The Fracture Risk Assessment score indicated a low risk of major osteoporotic and hip fractures,not warranting immediate treatment.Plans are underway to initiate enzyme replacement therapy with asfotase alfa.CONCLUSION Recognizing HPP is crucial,as early diagnosis and treatment can significantly improve patient outcomes and prevent complications.

关 键 词：HYPOPHOSPHATASIA Tissue-nonspecific alkaline phosphatase OSTEOPENIA Enzyme replacement therapy Asfotase alfa Low alkaline phosphatase levels Vitamin B6 metabolism Skeletal hypomineralization Rare metabolic disorders Adultonset hypophosphatasia Case report 

分 类 号：R589.5[医药卫生—内分泌]