C127163Level 8
Familial Hyperaldosteronism Type 3
**Semantic type:** Finding
**Definition:** Familial hyperaldosteronism caused by a mutation in the KCNJ5 gene, which encodes the inwardly rectifying potassium channel. This condition, characterized by hypokalemia and severe hypertension, presents during early childhood, and is unresponsive to glucocorticoid therapy.
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