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ba0006oc20 | (1) | ICCBH2017

Autoimmune hyperphosphatemic tumoral calcinosis

Ramnitz Mary Scott , Burbelo Peter , Egli-Spichtig Daniela , Perwad Farzana , Romero Christopher , Ichikawa Shoji , Farrow Emily , Econs Michael , Guthrie Lori , Gafni Rachel I. , Collins Michael T.

Background: Hyperphosphatemic familial tumoral calcinosis (HFTC)/hyperostosis-hyperphosphatemia syndrome (HHS) is an autosomal recessive disorder due to deficiency of or resistance to intact fibroblast growth factor 23 (FGF23). This leads to hyperphosphatemia, increased renal reabsorption of phosphorus (TRP), and elevated or inappropriately normal 1,25-dihydroxyvitamin D (1,25D). Affected individuals may develop ectopic calcifications and/or diaphyseal hyperostosis. Mutations ...

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ba0007oc16 | (1) | ICCBH2019

A natural history study of generalized arterial calcification of infancy (GACI) and autosomal recessive hypophosphatemic rickets (ARHR2) due to ENPP1 or ABCC6 deficiency: interim analysis

Nitschke Yvonne , Kintzinger Kristina , Hackbarth Mary , Botschen Ulrike , Wang Sisi , Gafni Rachel I , Mueller Kerstin , Ahmed Ruhi , Yuen Eric , Gahl William A , Ferreira Carlos R , Rutsch Frank

Introduction: ENPP1 Deficiency manifests as GACI type 1 in infants, a disorder characterized by extensive arterial calcifications and stenoses, often fatal in utero or in early infancy. Beyond six months, the mortality rate significantly decreases among survivors, who may later develop ARHR2, characterized clinically by short stature, bone deformities and pain. ABCC6 Deficiency also manifests as GACI type 2 in infants and is clinically indistinguishable from GACI type 1. Anima...

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Bone Abstracts

Autoimmune hyperphosphatemic tumoral calcinosis

A natural history study of generalized arterial calcification of infancy (GACI) and autosomal recessive hypophosphatemic rickets (ARHR2) due to ENPP1 or ABCC6 deficiency: interim analysis

BiosciAbstracts