ISSN 1662-4009 (online)

Volume 15 | ESPEYB15 | Next issue

Yearbook of Paediatric Endocrinology 2018

5 Bone, Growth Plate and Mineral Metabolism

New and repurposed therapies

ey0015.5-1 | New and repurposed therapies | ESPEYB15

5.1 Burosumab Therapy in Children with X-Linked Hypophosphatemia

TO Carpenter , MP Whyte , EA Imel , AM Boot , W Hogler , A Linglart , R Padidela , W Van't Hoff , M Mao , CY Chen , A Skrinar , E Kakkis , J San Martin , AA Portale

To read the full abstract: N Engl J Med 2018;378:1987-1998FGF-23 is the primary regulator of phosphate homeostasis and acts by inhibiting phosphate reabsorption in the kidney (1). Loss-of-function mutations in the gene encoding phosphate-regulating endopeptidase homolog X-linked (PHEX) results in excess circulating FGF-23, which impairs renal phosphate reabsorption causing hypophosphatemia...

ey0015.5-2 | New and repurposed therapies | ESPEYB15

5.2 Increased intracellular proteolysis reduces disease severity in an ER stress-associated dwarfism

LA Mullan , EJ Mularczyk , LH Kung , M Forouhan , JM Wragg , R Goodacre , JF Bateman , E Swanton , MD Briggs , RP Boot-Handford

To read the full abstract: J Clin Invest 2017;127:3861-3865Metaphyseal chondrodysplasia, Schmid type (MCDS) is an orphan disease with highly abnormal endochondral ossification causing shortening and deformities of the limbs, impairment of mobility and chronic pain. As for most skeletal dysplasias, current treatment options remain symptomatic due to the lack in causal therapeutic measures. In the actua...