hrp0089s3.4 | Recent consensus guidelines | ESPE2018

Prevention and Management of Rickets

Hogler Wolfgang

Calcium and phosphorus represent the main building material for bone and growth plate mineralization and bone stiffness. The supplier of these bone minerals is the hormone calcitriol, which originates from vitamin D, itself made by sunshine in human skin. Requirement for bone mineral supply is highest during phases of rapid growth, such as during pregnancy, infancy and puberty. The body can be deprived of calcium either through low dietary calcium intake and/or low vitamin D. ...

hrp0082p1-d2-39 | Bone | ESPE2014

Continuous s.c. Recombinant PTH1–34 Pump Therapy in Congenital Hypoparathyroidism Associated with Malabsorption

Saraff Vrinda , Hogler Wolfgang

Background: Congenital hypoparathyroidism (CH) is a rare disease that usually responds well to conventional therapy with active vitamin D and calcium supplementation. The successful use of continuous s.c. recombinant parathyroid hormone (rhPTH1–34) infusion as a hormone replacement has been demonstrated in cases of CH caused by autosomal dominant hypoparathyroidism or autoimmune polyendocrine syndrome type 1.Objective and hypotheses: We r...

hrp0082fc2.4 | Bone & Mineral | ESPE2014

Fractures in Children with Chronic Inflammatory and/or Disabling Conditions: the SNAP Study

Crabtree Nicola , Hogler Wolfgang , Shaw Nicholas

Background: The SNAP study is a prospective fracture study of children with chronic inflammatory and/or disabling conditions.Objective and Hypotheses: The overall aim of the study is to establish if there is a causal link between measured body-size related bone density and low trauma fracture.Method: 280 children, aged 5–18 years, from seven disease groups namely; acute lymphoblastic leukaemia (ALL), rheumatological disease, i...

hrp0084p2-213 | Bone | ESPE2015

Comparison of Cost Benefits and Efficacy of Zoledronic Acid and Pamidronate in the Treatment of Osteogenesis Imperfecta in Children

Saraff Vrinda , Sahota Jaskiran , Crabtree Nicola , Shaw Nick , Hogler Wolfgang

Background: i.v. Pamidronate (PAM) has been used in the treatment of osteogenesis imperfecta (OI) and is known to increase bone mineral density (BMD) and reduce the incidence of fractures. However an attractive alternative is the more potent i.v. Zoledronic acid (ZOL).Objective and hypotheses: To determine the clinical efficacy of i.v. PAM vs ZOL in children with mild to moderate OI and compare the cost benefits of the two drugs.Me...

hrp0082fc10.3 | Programming & Early Endocrinology | ESPE2014

Genetic and Epigenetic Defects at the GNAS Locus Lead to Opposite Patterns of Fetal and Postnatal Growth

Grybek Virginie , Maupetit-Mehouas Stephanie , Hogler Wolfgang , Juppner Harald , Silve Caroline , Linglart Agnes

Background: Pseudohypoparathyroidism (PHP) is characterized by proximal tubular resistance to PTH and, in some disease variants, by Albright osteodystrophy. PHP is caused either by mutations in those regions of GNAS encoding Gsα (PHP1A and PseudoPHP) or by GNAS methylation defects (autosomal dominant (AD) and sporadic (spor) PHP1B). Phenotypic differences in fetal growth, post-natal growth and metabolism are observed in the different PHP types.<p cla...

hrp0082fclb6 | Late Breaking Abstracts | ESPE2014

Global Consensus Recommendations on Prevention and Management of Nutritional Rickets

Munns Craig , Shaw Nick , Kiely Mairead , Specker Bonny , Thacher Thomas , Hogler Wolfgang

Background: Vitamin D and/or calcium deficiency are very common in many areas worldwide, causing nutritional rickets, osteomalacia, hypocalcaemic seizures, cardiomyopathy, and muscle weakness. Nutritional rickets is defined as impaired mineralization at the growth plate. Untreated rickets leads to bone deformity, disability, obstructed labor, and reduced quality of life. The prevalence of nutritional rickets is increasing globally.Objective and methods: ...

hrp0082p1-d2-121 | Fat Metabolism &amp; Obesity (1) | ESPE2014

Sex-, Age- and Height-Specific Reference Curves for the 6-min Walk Test in Healthy Children and Adolescents

Saraff Vrinda , Schneider Johanna , Colleselli Valeria , Ruepp Monika , Neururer Sabrina , Rauchenzauner Markus , Geiger Ralf , Hogler Wolfgang

Background: The 6-min walk test (6MWT) is a simple, accurate and safe method to measure functional exercise capacity. The 6MWT is increasingly used in children to predict morbidity and mortality from cardiopulmonary disease, to assess functional capacity and measure disease progression in chronic childhood conditions such as muscular dystrophy.Objective and hypotheses: To provide smooth reference curves for the 6-min walk distance (6MWD) in healthy child...

hrp0094p2-86 | Bone, growth plate and mineral metabolism | ESPE2021

Spontaneous Reshaping of Vertebral Fractures in an Adolescent with Osteogenesis Imperfecta

Montero-Lopez Rodrigo , Tischlinger Katharina , Laurer Elisabeth , Hortenhuber Thomas , Hogler Wolfgang ,

Introduction: Vertebral fractures (VFs) are a common and severe finding in secondary and primary osteoporosis. VFs in patients with osteogenesis imperfecta (OI) are an important factor of morbidity and mortality and their presence serves as supportive evidence to initiate bisphosphonate (BP) therapy. In children, VFs have the potential to reshape and regain their original configuration. Vertebral reshaping is regarded a desired effect of BP therapy in children...

hrp0084p2-229 | Bone | ESPE2015

Comparison of the Response to Bisphosphonate Treatment between Acute Lymphoblastic Leukaemia and Osteogenesis Imperfecta Type I

Uday Suma , Kumaran Anitha , Ginige Nimasari , Sakka Sophia , Saraff Vrinda , Sahota J , Crabtree Nicola , Shaw Nick , Hogler Wolfgang

Background: Osteoporosis in children with osteogenesis imperfecta type 1 (OIT1) and acute lymphoblastic leukaemia (ALL) is characterised by high bone turnover. However the ability of spontaneous healing and reshaping of bone is retained in ALL even in the absence of bisphosphonate (BP) therapy, but impaired in OI.Objectives: To compare the response to BP therapy in children with ALL and OI.Methods: Retrospective review of children ...

hrp0089p1-p038 | Bone, Growth Plate &amp; Mineral Metabolism P1 | ESPE2018

Disease Burden and Systemic Manifestations of HPP in Children Enrolled in the Global HPP Registry

Hogler Wolfgang , Langman Craig , Gomes Da Silva Hugo , Fang Shona , Linglart Agnes , Ozono Keiichi , Petryk Anna , Rockman-Greenberg Cheryl , Seefried Lothar , Kishnani Priya

Hypophosphatasia (HPP) is a rare, inherited, systemic disease caused by mutation(s) of the ALPL gene encoding tissue-nonspecific alkaline phosphatase (ALP), resulting in deficient ALP activity. Asfotase alfa is an enzyme replacement therapy approved for treatment of patients with pediatric-onset HPP. The global HPP Registry is an observational, prospective, multinational study (NCT02306720; EUPAS13514) established to collect real world clinical data from patients of a...