Bone Abstracts

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...

Objectives: As osteoblasts mature, they acquire the expression of multiple molecules involved in phosphate metabolism, including dentin matrix protein 1 (DMP1) and fibroblast growth factor 23 (FGF23). This suggests that osteoblasts and osteocytes may sense and respond to alterations in the phosphate availability in their microenvironment. We previously reported that increased extracellular inorganic phosphate (Pi) triggered signal transduction in various cell types to alter ge...

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...