Article ; Online: Familial hyperaldosteronism type III a novel case and review of literature.
Reviews in endocrine & metabolic disorders
2018 Volume 20, Issue 1, Page(s) 27–36
Abstract: 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, ...
| Abstract | 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. |
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| MeSH term(s) | G Protein-Coupled Inwardly-Rectifying Potassium Channels/genetics ; G Protein-Coupled Inwardly-Rectifying Potassium Channels/metabolism ; Humans ; Hyperaldosteronism/genetics ; Hyperaldosteronism/metabolism ; Hyperaldosteronism/physiopathology ; Hypertension/genetics ; Hypertension/physiopathology ; Mutation/genetics |
| Chemical Substances | G Protein-Coupled Inwardly-Rectifying Potassium Channels ; KCNJ5 protein, human |
| Language | English |
| Publishing date | 2018-08-01 |
| Publishing country | Germany |
| Document type | Journal Article ; Review |
| ZDB-ID | 2185718-0 |
| ISSN | 1573-2606 ; 1389-9155 |
| ISSN (online) | 1573-2606 |
| ISSN | 1389-9155 |
| DOI | 10.1007/s11154-018-9481-0 |
| Database | MEDical Literature Analysis and Retrieval System OnLINE |
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