CEACR 2020, 2(1), 20; doi: 10.35995/ceacr2010020
Primary Adrenal Insufficiency—Diagnosis and Management Challenges
1 Department of Medical Informatics and Biostatistics, Iuliu Hațieganu University of Medicine and Pharmacy, Louis Pasteur Str., No. 6, 400349 Cluj-Napoca, Romania
2 Pediatric Hospital 1, Clinical Emergency Pediatric Hospital, Calea Moților, No. 68, 400370 Cluj-Napoca, Romania;
* Corresponding author:
* Author to whom correspondence should be addressed.
(this article belongs to the Special Issue ENDOPED International Congress 2020)
Received: 20 Oct 2020 / Revised: 16 Nov 2020 / Accepted: 14 Nov 2020 / Published: 20 Nov 2020
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.
Keywords: Addison disease; adrenal insufficiency; rare disease; autoimmune syndrome
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Țaranu, I.; Creț, V. Primary Adrenal Insufficiency—Diagnosis and Management Challenges. CEACR 2020, 2, 20.
Țaranu I, Creț V. Primary Adrenal Insufficiency—Diagnosis and Management Challenges. Central European Annals of Clinical Research. 2020; 2(1):20.
Țaranu, Ioana; Creț, Victoria. 2020. "Primary Adrenal Insufficiency—Diagnosis and Management Challenges." CEACR 2, no. 1: 20.