Searchable abstracts of presentations at key conferences on calcified tissues

ba0001pp8 | Clinical case posters | ECTS2013

Phenotypic change in a patient with hypophosphatasia with the onset of renal failure

Cundy Tim , Michigami Toshimi , Tachikawa Kanako , Dray Michael , Collins John

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...

ba0007p114 | (1) | ICCBH2019

Hypophosphatasia in Japan: ALPL mutation analysis in 98 patients

Michigami Toshimi , Tachikawa Kanako , Yamazaki Miwa , Kawai Masanobu , Kubota Takuo , Ozono Keiichi

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...