hrp0086p1-p145 | Bone & Mineral Metabolism P1 | ESPE2016

To Study the Efficacy and Safety of Growth Hormone (GH) Therapy in Children with Pycnodysostosis

Mohamed Zainab , Sachdev Pooja , Zamir Imran , Benson Joanna , Denvir Louise , Mughal M Zulf , Randell Tabitha

Background: Pycnodysostosis is a rare recessive condition with mutation in the cathepsin K gene, causing reduction in bone reabsorption resulting in abnormally dense and fragile bones. Characteristic features include deformity of the skull, maxilla causing craniofacial, dental abnormalities with skeletal changes and short stature. Growth hormone therapy has been attempted in a small group of patients with Pycnodysostosis to promote final adult height, however has not been show...

hrp0086p1-p118 | Bone & Mineral Metabolism P1 | ESPE2016

Management of Tracheobronchomalacia During Asfotase Alfa Treatment in Infants with Perinatal-onset Hypophosphatasia: A Case Series

Padidela Raja , Yates Rob , Benscoter Dan , McPhail Gary , Chan Elaine , Nichani Jaya , Mughal M Zulf , Saal Howard M

Background: Hypophosphatasia (HPP) is a rare, inherited metabolic disease caused by loss-of-function mutations in the gene encoding tissue nonspecific alkaline phosphatase (TNSALP), resulting in hypomineralisation of bone. HPP presenting <6 months of age is often lethal due to respiratory insufficiency, with survival of 42% at 1 year. Asfotase alfa, a human recombinant TNSALP replacement, promotes bone mineralisation, with survival of 95% at 1 year in infants with HPP....

hrp0084p2-223 | Bone | ESPE2015

Refractory Hypercalcaemia of Malignancy: Responsiveness to Denosumab and Zoledronate

Giri Dinesh , Ramakrishnan Renuka , Hayden James , Brook Lynda , Das Urmi , Mughal M Zulf , Selby Peter , Dharmaraj Poonam , Senniappan Senthil

Background: Hypercalcaemia secondary to malignancy is rare in children and adolescents. Parathyroid hormone related peptide (PTH-rP) secreted by malignant cells increases bone resorption and renal calcium retention causing hypercalcaemia. We report 2 cases of hypercalcaemia of malignancy refractory to treatment with pamidronate and corticosteroids but responsive to treatment with Denosumab and Zoledronic acid.Case 1: A 17-year-old boy with epidermolysis ...

hrp0094p1-15 | Bone A | ESPE2021

Vitamin D status and guidelines in Paediatric Inflammatory Multisystem Syndrome Temporarily associated with SARS-CoV-2 (PIMS-TS)

Brighouse James Robert , Wan Mandy , Duncan Emma , Handforth Jennifer , Kenny Julia , Mughal M. Zulf , Riphagen Shelley , Theocharis Paraskevi , Cheung Moira S. ,

Introduction: Paediatric Inflammatory Multisystem Syndrome Temporarily associated with SARS-CoV-2 (PIMS-TS) was first reported by our hospital in the UK. Vitamin D3(25(OH)D) has important roles in cardiac function, immunomodulation, and inflammation. It therefore may be an important biomarker for severity in PIMS-TS, however 25(OH)D status and treatment guidance in PIMS-TS are lacking. We report serum 25(OH)D levels on admission and associations wit...