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57th Annual ESPE

Athens, Greece
27 Sep 2018 - 29 Sep 2018

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ESPE 2018 57th European Society for Paediatric Endocrinology Annual Meeting 27-29 September 2018 Athens, Greece

Free Communications

Bone, Growth Plate & Mineral Metabolism 2

hrp0089fc11.1 | Bone, Growth Plate & Mineral Metabolism 2 | ESPE2018

Successful Immune Tolerance Induction in the First Case of Neutralizing Antibody Mediated Loss of Efficacy of Asfotase Alfa Treatment in Hypophosphatasia

Martos-Moreno Gabriel A , Gonzalez-Vicent Marta , Sebastian Elena , Argente Jesus

Introduction: Generation of neutralizing antibodies (Nab) is a complication in enzyme replacement therapies and can lead to loss of treatment efficacy. Asfotase alfa (AA) was recently approved as the first replacement therapy in severe hypophosphatasia (congenital deficiency of alkaline phosphatase [TNSALP]). We report a case of neutralizing antibody mediated loss of efficacy of AA treatment in hypophosphatasia and the successful result of immune tolerance ind...

hrp0089fc11.2 | Bone, Growth Plate & Mineral Metabolism 2 | ESPE2018

Elevated Phosphate Levels Inhibit Skeletal Muscle Cell Differentiation In vitro

Raimann Adalbert , Egerbacher Monika , Greber-Platzer Susanne , Dangl Alexander , Pietschmann Peter , Haeusler Gabriele

Background: Hyperphosphatemic conditions such as chronic kidney disease are associated with muscle wasting and impaired life quality. While muscle regeneration relies on myogenic progenitor recruitment, the effects of high phosphate loads on this process has not been investigated in detail. This study aims to clarify the direct effectsof hyperphosphatemic conditions on skeletal myoblast differentiation in an murine cell model system.Material and methods:...

hrp0089fc11.3 | Bone, Growth Plate & Mineral Metabolism 2 | ESPE2018

Evidence for Effects of FGF2 Aptamer in an Achondroplasia Mice Model and an In Vitro Chondrocyte Differentiation System Using Patient-Derived iPS Cells

Ozono Keiichi , Yasuda Kie , Kimura Takeshi , Nakano Yukako , Kitabatake Yasuji , Kubota Takuo , Nonaka Yosuke , Fujiwara Masatoshi , Nakamura Yoshikazu

Achondroplasia (Ach) is a skeletal disorder caused by gain-of-function mutations of FGFR3. Ach patients suffer from various complications such as short stature, foramen magnum stenosis and sleep apnea. Disease-specific treatment is not available at present, although some drugs including a C-type natriuretic peptide analogue have been developed. The mutated FGFR3, G380R, has an elevated activity of the receptor-associated tyrosine kinase, but G380R is further activated...

hrp0089fc11.4 | Bone, Growth Plate & Mineral Metabolism 2 | ESPE2018

Using Patient Derived Induced Pluripotent Stem Cells to Model Multiple Epiphyseal Dysplasia

Woods Steven , Harley Peter , Soul Jamie , Kamprom Ni , Bates Nicola , Wang Qi , Mortier Geert , Hardingham Tim , Kimber Susan

Multiple epiphyseal dysplasia (MED) is a chondrodysplasia characterised by delayed epiphyseal endochondral ossification, resulting in disproportionate short stature and early onset osteoarthritis. MED can be caused by heterozygous mutations in COMP, MATN3, COL9A1, COL9A2 and COL9A3, or bi-allelic mutations in SLC26A2. Human induced pluripotent stem cells (hiPSCs) are reprogrammed somatic cells which can differentiate to form all body tissues and have excellent potential for ti...

hrp0089fc11.5 | Bone, Growth Plate & Mineral Metabolism 2 | ESPE2018

A Recurrent 6-bp Intronic Deletion in NESP55 with Reduced Penetrance in Pseudohypoparathyroidism Type 1b

Li Dong , Hakonarson Hakon , Levine Michael

Background: Pseudohypoparathyroidism type 1b (PHP1b) is caused by epigenetic errors on the maternal GNAS allele at differentially methylated regions (DMRs) associated with exons A/B, XL, and NESP that lead to reduced production of Gαs transcripts most notably in the renal proximal tubule and thyroid follicular cells. Most PHP1b cases appear sporadically, few of which can be explained by paternal uniparental disomy involving chromosome 20q, leading to global methy...

hrp0089fc11.6 | Bone, Growth Plate & Mineral Metabolism 2 | ESPE2018

Management of Severe, Protracted Hypocalcaemia in Patients Undergoing Thymus Transplantation in a Tertiary Centre: A 10-Year Experience

Goff Nicole , Katugampola Harshini , Monti Elena , Taylor Katherine , Amin Rakesh , Hindmarsh Peter , Peters Catherine , Pratik Shah , Spoudeas Helen , Dattani Mehul , Allgrove Jeremy , Brain Caroline

Background: Thymus transplantation is undertaken for conditions associated with severe immunodeficiency. These comprise a number of genetic and syndromic associations including 22q deletion syndrome, CHARGE association, diabetic embryopathy, and other rarer conditions. These conditions may also be associated with hypoparathyroidism and patients are therefore at risk of severe hypocalcaemia. There are no published guidelines for calcium replacement in these patients during the ...