Searchable abstracts of presentations at key conferences on calcified tissues

ba0007p70 | (1) | ICCBH2019

Metabolic bone disease of prematurity – comparing neonatal and endocrine approaches using a nationwide survey

Chinoy Amish , Mughal Zulf , Padidela Raja

Objectives: Metabolic bone disease of prematurity (MBDP) is a multi-factorial condition characterised by a deficiency of calcium (Ca) and phosphate (PO4) mineral for incorporation into the organic bone matrix. Given the lack of clear guidelines, we conducted a survey across the United Kingdom of current practices, inviting both neonatologists and paediatric metabolic bone disease specialists (PMBS).Methods: A web-based questionnaire survey was disseminat...

ba0006p194 | (1) | ICCBH2017

Variable learning disability and behavioural difficulties in children with familial hypocalciuric hypercalcaemia type 3

Chinoy Amish , Skae Mars , Nicholson Jacqueline , Mughal Zulf , Padidela Raja

Background: Familial hypocalciuric hypercalcaemia type 3 (FHH3) is a genetically heterogenous autosomal dominant disorder caused by loss-of-function mutations in the AP2S1 gene. This gene encodes the alpha-2 subunit of the adaptor protein-2 complex, which facilitates endocytosis of plasma membrane constituents such as G-protein coupled receptors.Objective: It has been suggested that FHH3 may be associated with cognitive deficits (1). We assessed...

ba0006p067 | (1) | ICCBH2017

Mid-gestation anomaly scan cannot be relied upon for screening for severe perinatal hypophosphatasia

Chinoy Amish , Iruloh Chibuike , Kerr Bronwyn , Yates Robert , Mughal Zulf , Padidela Raja

Background: Hypophosphatasia (HPP) is a disorder of bone mineralisation caused by deficiency of alkaline phosphatase (secondary to ALPL gene mutations), causing accumulation of inorganic pyrophosphate (PPi) thus inhibiting bone mineralisation. The perinatal form presents with severe manifestations at birth. Most severe skeletal manifestations are detectable by 20 weeks gestational age (GA) anomaly scan, and antenatal care within the UK practices routine detailed anoma...