hrp0086p2-p706 | Endocrinology and Multisystemic Diseases P2 | ESPE2016

Nephrogenic Syndrome of Inappropriate Antidiuresis (NSIAD) Managed with Fluid Restriction and Salt Supplementation

Amato Lisa A , Verge Charles F , Walker Jan L , Neville Kristen A

Background: NSIAD is a rare genetic cause of hyponatremia, due to activating mutations in AVPR2 gene, encoding the Arginine Vasopressin Receptor Type 2, and located on Xq28. Of the fewer than 30 reported cases, most have been managed with fluid restriction and urea.Objective and hypotheses: Illustration of the presentation of a family with this genetic abnormality and approach to management.Method: The clinical, biochemical and gen...

hrp0082p1-d2-38 | Bone | ESPE2014

Increased Rates of Infantile Hypercalcaemia Following Guidelines for Antenatal Vitamin D3 Supplementation

Amato Lisa A , Neville Kristen A , Hameed Shihab , Quek Wei Shern , Verge Charles F , Woodhead Helen J , White Chris P , Horvath Andrea Rita , Walker Jan L

Background: Consultations for infantile hypercalcaemia have increased at Sydney ChildrenÂ’s Hospital since guidelines for vitamin D3 supplementation during pregnancy were introduced in 2006. Recent nationwide shortages of low-calcium formula (LCF) suggest this problem may be widespread.Aim: To determine if infantile hypercalcaemia is occurring more commonly, identify potential aetiologies and clinical significance.Me...