Familial hyperaldosteronism type III a novel case and review of literature
Por:
Pons Fernández N, Moreno F, Morata J, Moriano A, León S, De Mingo C, Zuñiga Á and Calvo F
Publicada:
1 mar 2019
Ahead of Print:
19 dic 2018
Resumen:
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.
Filiaciones:
:
Department of Pediatrics, Hospital Lluís Alcanyís de Xàtiva, Ctra. Xàtiva a Silla km 2, 46800, Xàtiva, Valencia, Spain.
Moreno F:
Hospital Universitario y Politécnico La Fe de Valencia, Valencia, Spain
:
Department of Pediatrics, Hospital Lluís Alcanyís de Xàtiva, Ctra. Xàtiva a Silla km 2, 46800, Xàtiva, Valencia, Spain
:
Department of Pediatrics, Hospital Lluís Alcanyís de Xàtiva, Ctra. Xàtiva a Silla km 2, 46800, Xàtiva, Valencia, Spain
León S:
Hospital Universitario y Politécnico La Fe de Valencia, Valencia, Spain
De Mingo C:
Hospital Universitario y Politécnico La Fe de Valencia, Valencia, Spain
Zuñiga Á:
Hospital Universitario y Politécnico La Fe de Valencia, Valencia, Spain
:
Department of Pediatrics, Hospital Lluís Alcanyís de Xàtiva, Ctra. Xàtiva a Silla km 2, 46800, Xàtiva, Valencia, Spain
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