ESPE Abstracts

Background: BMI to screen children for cardiometabolic risk has numerous drawbacks. Hypertriglyceridemic-waist (HW) phenotype is recognized as an effective screening tool to identify adults but role in children is not known.Objective and hypotheses: To evaluate HW-phenotype as an alternative for BMI in recognizing children (5–18 years) at risk for cardiometabolic risk factors.Method: Retrospective review of case records of chi...

Background: Pseudohypoaldosteronism type I (PHA1) is a rare disease of mineralocorticoid resistance (MR). Neonatal manifestation leads to life-threatening dehydration due to massive salt-loss, acidosis and frequently, failure to thrive. Two clinically and genetically distinct forms exist, namely systemic and renal PHA1 caused by mutations in the subunit genes (SCNN1A, SCNN1B, SCNN1G) of the epithelial sodium channel (ENaC) and mineralocorticoid recep...

The calcium-sensing receptor (CaSR) is the master regulator of calcium homeostasis. This class C G-protein coupled receptor binds extracellular calcium and phosphate, and is the target of calcimimetic and calcilytic drugs. The CaSR is expressed on the cell surface as a homodimer and is most highly expressed in the parathyroid glands and the renal thick ascending limb, where it acts to maintain a near-constancy of plasma calcium concentrations by regulating parathyroid hormone ...

Background: Patients with autosomal dominant hypocalcemia type 1 (ADH1), due to germline gain-of-function calcium-sensing receptor (CASR) mutations, have hypocalcemia and seizures, hyperphosphatemia, hypercalciuria and inappropriately low parathyroid hormone (PTH) concentrations. Treatment for ADH1 comprises calcium and vitamin D analogs, however, their use predisposes to nephrocalcinosis and renal impairment. In contrast, recombinant human PTH(1-34) may incre...