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...