Article: Familial hyperkalemic hypertension: hyperkalemia not hypertension defines dominant KLHL3 disease and may permit earlier recognition and tailored therapy
Authors: Meenakshi Sambharia, Jyothsna Gattineni, Lama Noureddine, M Adela Mansilla, Christie P Thomas
Journal: J Nephrol. 2022 Jan 8. doi: 10.1007/s40620-021-01217-5. Online ahead of print.
Excerpt:
FHHt, also known as PHAII or Gordon syndrome, is a monogenic disorder of distal nephron ion transport causing hypertension, hyperkalemia, normal anion gap metabolic acidosis and hypercalciuria [3]. FHHt, was first described in 1964 [3] and although considered rare, the actual prevalence may be higher because the manifestations may be mild, incomplete, or poorly ascertained. We herein describe three patients with FHHt in whom isolated hyperkalemia was the only consistent feature. The diagnosis was confirmed by genetic testing and thiazide therapy led to rapid resolution of hyperkalemia.
Link to journal online:
https://link.springer.com/article/10.1007%2Fs40620-021-01217-5