Bone Abstracts

Background: It is important to increase bone mineral density (BMD) by the treatment with bisphosphonates (BPs), as lower BMD has been revealed to be one of the risk factors for the subsequent fragility fracture in patients with osteoporosis treated with BPs.Methods: The two independent populations of the patients with postmenopausal osteoporosis who were treated for 2y by BPs with active vitamin D analogue (aVD) were enrolled in Study 1 (n=93) a...

Hypophosphatasia is a recessively inherited disorder with a wide phenotypic manifestation ranging from lethality in neonates to asymptomatic in adults. The severity of the phenotype is largely determined by the nature of the ALPL mutations. We describe a previously asymptomatic adult whose phenotype dramatically changed after he developed renal failure. A 50-year-old man was diagnosed with IgA nephropathy. At age 52 (eGFR 50 ml/min) he suffered his first metatarsal fr...

Background: Hypophosphatasia (HPP) is caused by inactivating mutations in the ALPL gene encoding tissue-nonspecific alkaline phosphatase (TNSALP). HPP is variable in clinical manifestations and prognosis, and is generally classified into six subtypes: perinatal lethal, perinatal benign (prenatal benign), infantile, childhood, adult, and odonto HPP. Although genetic test is broadly used for diagnosis of HPP, the genotype-phenotype relationship still remains unclear.<p class...