原发性肾上腺疾病案例分析.pptVIP

Primary Adrenal Disease Briana Patterson, M.D. Fellow, Pediatric Endocrinology Emory University School of Medicine Objectives Normal adrenal physiology Common causes of primary adrenal insufficiency Evaluation of suspected adrenal insufficiency Acute and chronic management issues Normal Adrenals Adrenal Cortex Adrenal Histology Adrenal physiology 1:HPA axis Adrenal physiology 2:Renin-angiotensin system Steroid Biosynthesis Primary adrenal insufficiency:Etiologies Acquired Autoimmune AIDS Tuberculosis Bilateral injury Hemorrhage Necrosis Metastasis Idiopathic Congenital Congenital adrenal hyperplasia Wolman disease Adrenal hypoplasia congenita Allgrove syndrome (AAA) Primary adrenal insufficiency:Etiologies Acquired Autoimmune AIDS Tuberculosis Bilateral injury Hemorrhage Necrosis Metastasis Idiopathic Tuberculosis Adrenal Hemorrhage:Meningiococcemia Addison’s Disease 1st described in 1855 by Dr. Thomas Addison Refers to acquired primary adrenal insufficiency Does not confer specific etiology Usually autoimmune (~80%) Addison’s Disease Primary adrenal insufficiency:Symptoms Fatigue Weakness Orthostatsis Weight loss Poor appetite Neuropsychiatric Apathy Confusion Nausea, vomiting Abdominal pain Salt craving Primary adrenal insufficiency:Physical findings Hyperpigmentation Hypotension Orthostatic changes Weak pulses Shock Loss of axillary/pubic hair (women) Primary adrenal insufficiency:Physical findings Primary adrenal insufficiency:Laboratory findings Hyponatremia Hyperkalemia Hypoglycemia Narrow cardiac silhouette on CXR Low voltage EKG Primary adrenal insufficiency:Etiologies Congenital Congenital adrenal hyperplasia Wolman disease Adrenal hypoplasia congenita Allgrove syndrome (AAA) 21-hydroxylase deficiency: Pathophysiology CAH: Pathophysiology CAH: Pathophysiology 21-hydroxylase deficiency:Physical exam Females are unremarkable other than genitalia GU exam – Clitoromegaly, posterior labial fusion, no vaginal opening Males appear normal 21-hydroxy