Abstract:
Objectives and Study: We present a case of a 9-month-old male infant who was admitted to our Pediatric de partment because of failure to thrive, vomiting, and severe dehydration. Born on time, weight 4100 g, breastfed up to 5 months. Growth was normal until 5 months. When complementary feeding s introduced, the infant manifested episodes of constipation and repeated vomiting after feedings.
Methods: As the clinical presentation started with failure to thrive, all the possible and more common causes were addressed initially, such as cystic fibrosis, coeliac disease, allergies, etc. The situation worsened quickly, with the manifestation of severe dehydration, loss of 10% of the actual weight, and acid-base disturbances with metabolic alkalosis, critical hyponatremia, hyperkalemia, and hypochloremia. (pH 7.51; Na 116, K 6.5, Cl 87). Congenital adrenal hyperplasia (CAH) was ruled out with the 17-OH progesterone test.
Results: In the absence of clear evidence of gastrointestinal fluid losses or renal dysfunction, suspicion for oth er causes of salt wasting (SW) was addressed in further investigations. Next-generation sequencing of the in fant’s DNA revealed the pathogenic homozygous mutation (ACC-ATC) (c.554C>T) (p.Thr185IIe) in CYP11B2 (NM_00498.3) gene in the infant. Significant hypo aldosteronism due to aldosterone synthase deficiency can present in infancy with salt wasting, which can lead to dehydration, shock, and even death if not adequately treated. The treatment for patients with mineralocorticoid hormone deficiency is Fludrocortisone, accompa nied by a high sodium intake through food.
Conclusions: Presenting symptoms of failure to thrive and later onset of salt wasting can be caused by Al dosterone Synthase Deficiency (ASD). Hypoaldosteronism is a rare, autosomal recessive syndrome that is a life-threatening disease. Coping in real life with this condition is challenging. Immediate treatment with min eralocorticoids is a must
Case Presentation: A 9-month-old male infant was admitted to the Pediatric Department of Acibadem Sistina Clinical Hospital with symptoms of failure to thrive, vomiting, and severe dehydration. He was born full-term, weighing 4100 grams, and was breastfed until 5 months of age. His growth was normal until the introduction of complementary feeding, at which point he developed constipation and recurrent vomiting. By the time of admission, he had lost 10% of his body weight and exhibited signs of severe dehydration, metabolic alkalo sis, hyponatremia (Na 116 mEq/L), hyperkalemia (K 6.5 mEq/L), and hypochloremia (Cl 87 mEq/L). Initial investigations ruled out common causes of salt-wasting, such as cystic fibrosis and celiac disease. CAH was excluded based on normal 17-hydroxyprogesterone levels. Given the clinical presentation, we made a decision to perform genetic testing.
Methods and Diagnostic Workup: Next-generation sequencing (NGS) revealed a homozygous mutation in the CY P11B2 gene (c.554C>T; p.Thr185Ile), confirming aldosterone synthase deficiency. This mutation impairs aldo sterone synthesis, disrupting sodium and potassium balance and resulting in severe electrolyte imbalances. Early genetic diagnosis is crucial for timely and effective treatment.
