CHoneska jovanova, Biljana

Preferred name
CHoneska jovanova, Biljana
Official Name
CHoneska jovanova, Biljana
Main Affiliation
Email
biljana.choneska.jovanova@medf.ukim.edu.mk

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    Item type:Publication,
    ALDOSTERONE SYNTHASE DEFICIENCY FROM HOMOZYGOUS CYP11B2 MUTATION PRESENTING WITH SALT WASTING CRISIS AND FAILURE TO THRIVE IN AN INFANT
    (Department of Anaesthesia and Reanimation, Faculty of Medicine, Ss. Cyril and Methodius University in Skopje, R.N. Macedonia, 2025-12-17)
    Nikchevska, Natasha
    ;
    Palchevska Kocevska, Snezhana
    ;
    ;
    ;
    Spasevska, Simonida
    Abstract Introduction: Aldosterone synthase deficiency (ASD) is a rare autosomal recessive disorder caused by pathogenic variants in the CYP11B2 gene, leading to impaired aldosterone synthesis and life-threatening salt-wasting. We present a case of an infant with failure to thrive, dehydration, and electrolyte imbalance, diagnosed through next-generation sequencing. Material and Methods: mitted with persistent vomiting, constipation, and a10% weight loss. Laboratory evaluation showed severe hyponatremia (116 mmol/L), hyperkalemia (6.5 mmol/L), hypochloremia (87 mmol/L), and metabolic alkalosis. Differential diagnosis included gastrointestinal loss, renal salt-wasting, cystic fibrosis, celiac disease, and congenital adrenal hyperplasia. Normal 17-hydroxyprogesterone excluded classical CAH. Next-generation sequencing was performed. Results: A homozygous pathogenic variant c.554C>T (p.Thr185Ile) in CYP11B2 confirmed ASD. Treatment with fludrocortisone and sodium supplementation resulted in rapid correction of electrolytes and improved growth. Follow-up at 3.5 years showed normal growth (14.5 kg, 103 cm), stable electrolytes, and normal development, with only mild transient hyponatremia during illness. Conclusion: ASD should be considered in infants with vomiting, dehydration, and combined hyponatremia–hyperkalemia when CAH is excluded. Early diagnosis and mineralocorticoid therapy prevent complications and support normal development.