Artikel ; Online: Familial hyperaldosteronism type III a novel case and review of literature.
Reviews in endocrine & metabolic disorders
2018 Band 20, Heft 1, Seite(n) 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. |
---|---|
Mesh-Begriff(e) | 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 |
Chemische Substanzen | G Protein-Coupled Inwardly-Rectifying Potassium Channels ; KCNJ5 protein, human |
Sprache | Englisch |
Erscheinungsdatum | 2018-08-01 |
Erscheinungsland | Germany |
Dokumenttyp | 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 |
Datenquelle | MEDical Literature Analysis and Retrieval System OnLINE |
Volltext online
Zusatzmaterialien
Kategorien
Verfügbar in ZB MED Köln/Königswinter
Zs.A 6069: Hefte anzeigen | Standort: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 2021: Bestellungen von Artikeln über das Online-Bestellformular ab Jg. 2022: Lesesaal (EG) |
Über subito bestellen
Dieser Service ist kostenpflichtig (siehe Lieferbedingungen von subito). Bestellungen, die einen Artikel nebst Supplementary Material umfassen, werden grundsätzlich wie mehrfache Bestellungen bearbeitet. Gebühren fallen in diesen Fällen für jede einzelne Bestellung an.