Libro blanco de las ACES Pediátricas 2024

Endocrinología Pediátrica. Anexos ❚ 185 49 Q. SALT AND WATER REGULATION 1 Polydipsia and polyuria • Primary polydipsia • Central vs nephrogenic diabetes insipidus (DI) • Desmopressin treatment for central DI C 2 Hypernatremia other than diabetes insipidus • Adipsic hypernatremia, inadequate water intake, excessive free water loss, excessive sodium intake • Fluid management D 3 Hyponatraemia • Sodium deficiency or loss: adrenal insufficiency, cerebral salt wasting • Excessive free water gain: water intoxication, SIADH • Fluid management and rate of correction of plasma sodium C 4 Water deprivation test: procedure and interpretation C 5 Fluid management in neurosurgical patients C R. CONDITIONS WITH ENDOCRINE FEATURES 1 Multiple endocrine neoplasia: spectrum of manifestations, genetic testing, screening • MEN1, MEN2A, MEN2B C 2 Syndromes with endocrine neoplasia • Neurofibromatosis type 1 • Carney complex • von Hippel-Lindau syndrome • DICER1 syndrome • Li Fraumeni syndrome • Peutz-Jegher syndrome • PTEN Hamartoma Tumour Syndrome (PHTS) C D 3 Autoimmune Polyglandular Syndromes (APS) • APS1, APS2, APS4 D 4 Endocrine consequences of chronic and systemic diseases including • Anorexia nervosa • Thalassaemia major • Sickle cell disease • Cystic fibrosis C