TY  - EJOU
AU  - Țaranu, Ț. Ioana
AU  - Creț, C. Victoria
TI  - Primary Adrenal Insufficiency—Diagnosis and Management Challenges
T2  - Central European Annals of Clinical Research

PY  - 2020
VL  - 2
IS  - 1
SN  - 2668-7305

AB  - We present the case of a child with mild axial hypotonia and episodes of persistent hyponatremia and hyperkalemia early in life, followed by an asymptomatic long period. During the present hospital admission, dysregulation of the adrenal gland function and detection of two missense variants in NR0B1 (nuclear receptor subfamily 0 group B member 1) gene state with high probability the diagnosis of congenital adrenal insufficiency. Management include substitution therapy and food supplementation with salt with good outcome.
KW  - Addison disease
KW  - adrenal insufficiency
KW  - rare disease
KW  - autoimmune syndrome
DO  - 10.35995/ceacr2010020