Familial hyperaldosteronism type III a novel case and review of literature
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Less than 15% of hypertension cases in children are secondary to a primary hyperaldosteronism. This is idiopathic in 60% of the cases, secondary to a unilateral adenoma in 30% and 10% remaining by primary adrenal hyperplasia, familial hyperaldosteronism, ectopic aldosterone production or adrenocortical carcinoma.To date, four types of familial hyperaldosteronism (FH I to FH IV) have been reported. FH III is caused by germline mutations in KCNJ5, encoding the potassium channel Kir3.4. The mutations cause the channel to lose its selectivity for potassium, allowing large quantities of sodium to enter the cell. As a consequence, the membrane depolarizes, voltage-gated calcium channels open, calcium enters the cell, initiating the cascade that leads to aldosterone synthesis. Somatic mutations in KCNJ5 has also been described in aldosterone-producing adenomas. The most frequent presentation of FH III is with severe hyperaldosteronism symptoms and resistance to pharmacological therapy which leads to bilateral adrenalectomy. We will review current literature and describe a child with FH III due to a novel de novo deletion in KCNJ5 with wild phenotype as a sign of clinical variability of this disease.
KeywordsHypertension Primary hyperaldosteronism Mineralocorticoid receptor KCNJ5 Kir3.4
Aldosterone producing adenoma
Bilateral adrenal hyperplasia
Dr. Pons conceptualized the review, drafted the initial manuscript, and approved the final manuscript as submitted. Drs Moreno, Morata, Moriano, León, de Mingo and Calvo carried out the initial analyses, reviewed and revised the manuscript, and approved the final manuscript as submitted. Dr. Zuñiga carried out the genetic test and approved the final manuscript.
Compliance with ethical standards
Dr. Pons and the remaining authors have no financial relationships relevant to this article to disclose.
Conflict of interest
Dr. Pons and the other authors have no conflicts of interest to disclose.
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