ESPE Abstracts

Background: Hereditary hypophosphatemic rickets (HHR) comprises a group of rare disorders characterized by renal phosphate wasting and impaired vitamin D metabolism. Numerous genetic defects can underlie this condition, with the X-linked dominant form (XLHR) being the most prevalent (1 in 20,000 individuals) resulting from inactivating variants in the PHEX gene.Aim: To characterize a large cohort of 99 argentini...

Rapid-onset obesity with central hypoventilation, hypothalamic, autonomic dysregulation (ROHHAD) syndrome is a rare disorder characterized by respiratory failure and autonomic dysregulation with endocrine abnormalities. Some of these patients could also present with neuroendocrine tumors (ROHHADNET).Aim: To evaluate the clinical, biochemical, treatments and outcome in a cohort of pediatrics patients with ROHHAD-NET syndrome follow in a s...

Introduction: Tuberous sclerosis (TS) is a rare, autosomal dominant, multisystem disease with a frequency of 1:6,000-10,000. It is caused by variants in the genes encoding hamartin (TSC 1) and tuberin (TSC 2) that normally act as inhibitors of the mTOR signaling cascade that regulates cell proliferation and migration, angiogenesis, and cell metabolism. The most frequent clinical presentation includes hypochromic macules, angiofibromas, hamartomas in the centra...

Introduction: Denosumab is a RANK-L inhibitory monoclonal antibody approved in adults for treatment of aneurysmal bone cyst (ABC) and giant cell tumor (GCT). Although it has shown to improve postsurgical morbidity and stop progression in unresectable forms, there is limited data to guide its use in growing patients, with reports of endocrinology disorders.Aim: Evaluate frequency, presentation and treatment of adverse eff...

Introduction: ABCD syndrome is characterized by hypercalcemia, hypercalciuria, nephrocalcinosis, and renal impairment, generally under 4 years old. This is a rare cause of pediatric hypercalcemia with only 7 cases published, but it is believed to be underdiagnosed. The suspected mechanism would be associated with overexpression of transient receptor potential channels (TRP) that modulate intestinal absorption of calcium, since TRP-M2 is encoded on chromosome 2...

Introduction: Growth failure represents a clinical challenge in children with chronic kidney disease (CKD). rhGH proved to be effective to enhance growth in patients (p) under conservative treatment (CT), dialysis (D), or after renal transplantation (RT).Aims: To report the results of rhGH treatment (GHT) in pediatric patients with CKD over the last 30 years in a single pediatric tertiary center. Study rhGH effectiveness...