ESPE Abstracts

Introduction: Obesity in children and adolescents is a growing global health problem. Obese children and adolescents provide the pediatric healthcare professionals management challenge. Obesity with insulin resistance, dyslipidemia and elevated blood pressure constitute the metabolic syndrome and each of these is an independent risk factor for cardiovascular disease, diabetes mellitus, non-alcoholic fatty liver disease. Lifestyle modification is a primary and main milestone in...

Background: Carbonic anhydrase II (CAII) deficiency is extremely rare (<1:1 000 000) autosomal recessive disease, which is characterized by the triad of osteopetrosis, basal ganglia calcifications and renal tubular acidosis. In addition short stature, facial dysmorfism and different degree of mental retardation are possible features. Different mutations of the gene for CAII on 8q21.2 lead to impaired enzyme activity and typical clinical, biochemical and imaging manifestati...

Background: Obesity in children is already a global health problem. Obese children and adolescents with insulin resistance provide the pediatric healthcare professionals management challenge. Obesity with insulin resistance, dyslipidemia and elevated blood pressure constitute the metabolic syndrome and each of these is an independent risk factor for cardiovascular disease (CVD). Metformin is well-established oral hypoglycaemic agent in the treatment of adult and young patients...

Background: Corticosteroids are medicines that are used to treat many chronic diseases. They are very effective anti-inflammatory drugs by suppressing the immune system, and are also used as a replacement therapy in conditions with low levels of endogenous cortisol. Glucocorticoid effects on bone metabolism include: reduced absorption of calcium in the intestine; increased calcium urinary excretion; increased bone resorption and reduced bone density. Corticosteroid treatment i...

Background: Chronic kidney disease (CDK) is one of the most common indications for treatment with recombinant human GH (rhGH).Objective and hypotheses: The aim of our study was to investigate the effect of rhGH therapy in pediatric patients with different stages of CKD.Method: 49 children (35 boys and 14 girls) aged from 0–18 years (mean age 9.01±4.28) with proven CKD and height retardation were treated with rhGH by a sin...

Background: Allgrove sydrome (triple A, 4 A syndrome) is a rare autosomal recessive disorder, characterized by the triad of ACTH resistant adrenal insufficiency, alacrima and achalasia. In addition many patients show progressive neurologic impairment such as progressive paripheral polyneuropathy, hyperreflexia, nasal speech and disautonomia. It is now known that mutations of the ADRACALIN (AAAS) gene on the 12q13, that encodes the protein ALADIN, are responsible for the clinic...

Background: This case underlines the importance of a newborn screening programme combined with genotyping for confirmation and prognosis of disease severity.Objective and hypotheses: Case presentation of a girl with three CYP21A2 mutations.Method: Girl, born from first uneventful pregnancy per vias naturalis. Birthweight 3200 g, birthlenght 50 cm. Intensive jaundice, start at d3, necessitating phototherapy. Discharged from...