hrp0098p2-209 | Multisystem Endocrine Disorders | ESPE2024

Acute renal failure as first presentation of APECED in infancy

Yankova Stefka , Balabanski Lubomir , Yaneva Slavyana , Atanasoska Maya , Yaneva Natasha , Arshinkova Margarita , Stoeva Iva

Introduction: Adrenal insufficiency is a rare, but potentially fatal medical condition, most frequently congenital in children. Rapid and accurate diagnosis is imperative for effective treatment. A growing number of causative gene mutations in overlapping clinical phenotypes and different syndromes which share adrenal insufficiency as one of the main characteristics were published recently.Case Presentation: An infant (b...