Searchable abstracts of presentations at key conferences in endocrinology

ea0036s1.2 | Symposia 1 Controversies in Vitamin D deficiency | BSPED2014

The role of vitamin D deficiency in unexplained fractures of infancy

Mughal Zulf

Multiple fractures, for which there is no clear explanation, raise the possibility of non-accidental injury (NAI). Vitamin D deficiency, defined as serum 25-hydroxyvitamin D (25OHD) concentrations of <50 nmol/l, is common during pregnancy and infancy.It had been suggested by Keller & Barnes (Pediatr Radiol 2008 38 1210–1216) that subclinical vitamin D deficiency could explain some fractures that have been ascribed t...

ea0028s7.4 | Latitude: Endocrine consequences of human migration | SFEBES2012

Resurgence of vitamin D deficiency rickets in the UK

Mughal Zulf

Rickets is a disease in which there is failure of mineralisation the growth plate and osteoid matrix. It is a disorder of the growing child which manifests during infancy (<18 months of age) and during the adolescent growth spurt. In the UK nutritional rickets is caused by vitamin D deficiency, although dietary calcium deficiency might exacerbate the disease. In humans the main source of vitamin D is by the conversion of 7-dehydrocholesterol in the skin to cholecalceferol ...

ea0013s48 | Management of endocrine disorders in pregnancy: the mother and the child | SFEBES2007

Maternal vitamin D status in pregnancy and risk to the child

Mughal Zulf

The main source of vitamin D is by the conversion of 7-dehydrocholesterol in the skin to cholecalceferol upon exposure to sun’s ultraviolet B radiation. Vitamin D in diet may be supplied as cholecalceferol or as ergocalciferol, which is derived from plant sources. Vitamin D is metabolised in the liver to 25-hydroxyvitamin D (25OHD; measure of an individual’s vitamin D status) and by kidneys to 1,25-dihydroxyvitamin D, which is responsible for calcium & phosphorou...

ea0036oc4.2 | Oral Communications 4 | BSPED2014

Validation of a Food Frequency Questionnaire for rapid assessment of daily dietary calcium intake in children

Nordblad Mikaela , Mughal Zulf , Padidela Raja

Introduction and aims: Adequate dietary calcium (Ca) intake is important for maintenance of bone health. In a clinical setting we employ a simple Food Frequency Questionnaire (FFQ) for rapid assessment of dietary Ca intake. In this study we have validated our FFQ using a 3-day food diary (3FD) in children presenting to our metabolic bone and endocrine clinics.Methods: Dietary Ca intake values estimated using the FFQ were compared to those estimated by th...

ea0030p12 | (1) | BSPED2012

An unusual case of hypercalciuria with hypophosphataemia and hyperphosphaturia

Steele Caroline , Bradbury Mark , Mughal Zulf

Hypophosphataemic rickets with hypercalciuria (HHRH) is a rare autosomal-recessive condition, typically reported in consanguineous families. Milder forms, with less significant hypophosphataemia, present with hypercalciuria and nephrolithiasis, without bone disease and may be underdiagnosed. The underlying pathophysiology is due to mutations in the SLC34A3 gene, which encodes a sodium-phosphate transporter in the proximal renal tubules. Our patient, a 13-year-old Caucasian gir...

ea0045p11 | CME | BSPED2016

Early administration of asfotase alfa in a newborn with perinatal hypophosphatasia

Chinoy Amish , Mughal Zulf , Padidela Raja

Hypophosphatasia (HPP) is an inherited systemic metabolic bone disease occurring due to mutations in the ALPL gene which encodes for tissue-nonspecific alkaline phosphatase (TNSALP), resulting in defective bone mineralisation due to accumulation of inorganic pyrophosphate (PPi). The perinatal form of this condition lays at the most severe end of the spectrum. Enzyme replacement therapy with asfotase alfa, a recombinant fusion protein that includes the catalytic domain...

ea0044cc5 | Featured Clinical Cases | SFEBES2016

A case report of a symptomatic osteopoikilosis patient caused by novel mutation in LEMD3

Tofeec Khaled , Soran Handrean , Mughal Zulf , Selby Peter

17 years lady presented with a fall onto her left knee, following which she continued to have severe persistent pain and occasionally her knee gave away with intermittent “locking”. A referral to metabolic bone disease clinic was made as the left knee X-ray showed discreet spherical areas of increased radiological density with normal CT and MRI scans of the left knee. Physical examination was unremarkable. Her brother was under investigation for lumps under skin. Mor...

ea0039ep17 | Bone | BSPED2015

The prevalence of fragility fractures in children with cerebral palsy in Manchester: a cross-sectional survey

Patel Ekta , Alshryda Sattar , Ferguson Anne , Mughal Zulf , Padidela Raja

Background: Cerebral palsy (CP) is the most common physically disabling childhood motor disorder. Fractures in this group of children are common, however, prevalence and risk factors associated with fractures in children with CP in the UK is not known.Aims: The aims of this cross-sectional survey were i) to determine the prevalence of fractures in children with moderate-to-severe CP in Manchester, ii) to determine the common sites of fracture, and iii) t...

ea0033p9 | (1) | BSPED2013

Enzyme-replacement therapy in life-threatening perinatal hypophosphatasia in a premature infant

Padidela Raja , Yates Robert , Chan Elaine , Mughal Zulf

Hypophosphatasia (HP) is a rare inborn error of metabolism resulting from inactivating mutations in the gene for the tissue-nonspecific isozyme of alkaline phosphatase (TNSALP). Deficiency of alkaline phosphatase (ALK) activity leads to severe rickets. The perinatal form presents with extreme skeletal hypomineralisation at birth, and was a fatal condition until recently. We describe an 11-month-old infant who is one of the few surviving cases of a preterm infant with ...

ea0030p11 | (1) | BSPED2012

Dietary calcium restriction in idiopathic infantile hypercalcemia does not adversely affect spinal and distal radial bone mineral density: report on nine patients

Daniel Anjali , Padidela Raja , Adams Judith , Mughal Zulf

Idiopathic infantile hypercalcemia (IIH) (OMIM 143880) is characterised by severe hypercalcemia, failure to thrive, vomiting, dehydration and nephrocalcinosis. Laboratory evaluation of infants affected with this condition reveals hypercalcemia, suppressed parathyroid hormone and hypercalciuria. Recently loss of function mutations in CYP24A1 gene have been found to cause IIH (New England Journal of Medicine 2011 365 410–21). Short-term treatment for th...