Searchable abstracts of presentations at key conferences on calcified tissues

ba0007p122 | (1) | ICCBH2019

Congenital hyperinsulinism of infancy in a child with autosomal dominant hypocalcaemia type 1 due to an activating calcium sensing receptor mutation

Sastre Ana , Shah Pratik , Gevers Evelien

Background: Autosomal dominant hypocalcaemia (ADH) is caused by activating mutations of the calcium sensing receptor (CaSR). Symptomatology ranges from asymptomatic hypocalcaemia to paraesthesia, tetani, laryngospasm and seizures. This is the first report of congenital hyperinsulinism (CHI) in a child with ADH.Presenting problem and clinical management: A female infant, born at term from non-consanguineous parents. She presented on D2 with persistent asy...

ba0006p135 | (1) | ICCBH2017

Continuous subcutaneous PTH infusion in autosomal dominant hypocalcaemia

Gevers Evelien , Buck Jacqui , Ashman Neil , Thakker Rajesh , Allgrove Jeremy

Objectives: Autosomal Dominant Hypocalcaemia (ADH) is due to gain-of-function mutations of the CASR resulting in constitutive activation of the GPCR Calcium Sensing Receptor (CaSR) leading to hypercalciuric hypocalcaemia, hypoparathyroidism and occasionally Bartter syndrome type V. Patients usually present with hypocalcaemic seizures at young age. Conventional treatment is with Alfacalcidol and Calcium or PTH injections. We describe a series of five patients with ADH ...

ba0004p144 | (1) | ICCBH2015

Hypomagnesaemia due to lead poisoning in the context of a heterozygous CLDN-16 mutation

Ramaswamy Priya , Kurre Malathi , Muller Dominik , Dargan Paul , Gevers Evelien , Allgrove Jeremy

Background: 3 year old boy born to non-consanguineous parents. He was diagnosed to have autism at 2 years of age. He had a history of pica.Presenting problem: He was admitted with severe carpopedal spasms of hands and feet. Investigations revealed severe hypomagnesaemia at 0.26 (0.7–1.0) mmol/l, hypocalcaemia at 1.59 (2.2–2.6) mmol/l, hypokalaemia, hyponatremia and moderately low vitamin D levels. Parathyroid hormone concentration was low. Urin...