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...

hrp0097p2-156 | Adrenals and HPA Axis | ESPE2023

Aldosterone deficiency and resistance: The different faces of renal salt loss

Laurer Elisabeth , Tischlinger Katharina , Montero-Lopez Rodrigo , Blaschitz Alexandra , Wimleitner Marlene , Hoertenhuber Thomas , Hoegler Wolfgang

Introduction: Heritable conditions causing aldosterone deficiency (hypoaldosteronism) or target-organ resistance (pseudohypoaldosteronism, PHA) can lead to life-threatening salt-wasting crises in early life. Prompt evaluation and correct interpretation of aldosterone and renin are crucial to guide differential diagnosis and further testing. Here we report on the similarities and differences of two neonates presenting with salt-wasting: Patient (P1) due to PHA ...

hrp0097p1-28 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Effects of romosozumab on bone ultrastructure and density in a patient with primary osteoporosis caused by a novel heterozygous WNT1 mutation

Montero-Lopez Rodrigo , Blaschitz Alexandra , Tischlinger Katharina , Wimleitner Marlene , Hörtenhuber Thomas , Klinger Markus , Cejka Daniel , Högler Wolfgang

Background: Genetic defects in the Wnt signaling pathway lead to early-onset osteoporosis (EOOP). Romosozumab is a monoclonal antibody against sclerostin, an inhibitor of the Wnt/ß-catenin pathway. Romosozumab has shown great efficacy in adult osteoporosis, however its effect in patients with Wnt-related EOOP is unknown. In monoallelic loss-of-function WNT1 mutations, romosozumab could potentially stimulate the defective Wnt signaling pathway an...

hrp0097lb2 | Late Breaking | ESPE2023

Denosumab in the treatment of paediatric hypercalcaemia

Tischlinger Katharina , Blaschitz Alexandra , Hörtenhuber Thomas , Montero-Lopez Rodrigo , Wimleitner Marlene , Uday Suma , Crane Janet , Högler Wolfgang

Background: Hypercalcaemia has various etiologies and treatment is often challenging. Therapeutic options include aggressive fluid management, loop diuretics and antiresorptive drugs. Since both hypercalcaemia and bisphosphonates can cause acute kidney injury (AKI), bisphosphonates are not recommended in patients with renal impairment. Denosumab, an antiresorptive human monoclonal antibody, is not associated with AKI and offers a temporary treatment option. Ho...