Familial hyperkalemic hypertension.
نویسندگان
چکیده
Juliette Hadchouel,* Céline Delaloy,* Sébastien Fauré, Jean-Michel Achard, and Xavier Jeunemaitre* *Collège de France, Paris; INSERM U36, Paris; AP-HP, Department of Genetics, Hôpital Européen Georges Pompidou; University Paris-Descartes, Faculty of Medicine, Paris, France; and Division of Nephrology and Department of Physiology, Limoges University Hospital, Limoges, France J Am Soc Nephrol 17: 208–217, 2006. doi: 10.1681/ASN.2005030314
منابع مشابه
Overexpression of the sodium chloride cotransporter is not sufficient to cause familial hyperkalemic hypertension.
The sodium chloride cotransporter (NCC) is the primary target of thiazides diuretics, drugs used commonly for long-term hypertension therapy. Thiazides also completely reverse the signs of familial hyperkalemic hypertension (FHHt), suggesting that the primary defect in FHHt is increased NCC activity. To test whether increased NCC abundance alone is sufficient to generate the FHHt phenotype, we ...
متن کاملDeletion of WNK1 first intron results in misregulation of both isoforms in renal and extrarenal tissues.
Large deletions in intron 1 of the with-no-lysine kinase type 1 (WNK1) gene cause familial hyperkalemic hypertension. Alternative promoters generate functionally different isoforms: long ubiquitous isoforms (L-WNK1) and a kidney-specific isoform (KS-WNK1) lacking kinase activity. It remains unclear whether the disease-causing mutations selectively modify the synthesis of 1 or both types of isof...
متن کاملSyndrome of hypertension and hyperkalemia with normal glomerular filtration rate.
ELSEWHERE in this issue, Soppi et al.' describe a Finnish patient with hypertension, hyperkalemia, and hyperchloremic acidosis. This rarely recognized syndrome has now been reported from seven countries representing most continents," and the same syndrome without hypertension constitutes an earlier stage in its development.' The syndrome is of great interest not only because careful study of su...
متن کاملBrief Review Syndrome of Hypertension and Hyperkalemia with Normal Glomerular Filtration Rate
ELSEWHERE in this issue, Soppi et al.' describe a Finnish patient with hypertension, hyperkalemia, and hyperchloremic acidosis. This rarely recognized syndrome has now been reported from seven countries representing most continents," and the same syndrome without hypertension constitutes an earlier stage in its development.' The syndrome is of great interest not only because careful study of su...
متن کاملEndocrine sodium and volume regulation in familial hyperkalemia with hypertension.
The hormonal regulation of sodium and volume homeostasis was investigated in three patients (two related) with the syndrome of familial hyperkalemic acidosis and hypertension with normal glomerular filtration rate. Recumbent plasma renin activity was low during normal sodium intake (135 mmol daily), and the response to upright posture or to low sodium diet (10 mmol daily) was blunted. Recumbent...
متن کاملSyndromes of impaired ion handling in the distal nephron: pseudohypoaldosteronism and familial hyperkalemic hypertension.
The distal nephron, which is the site of the micro-regulation of water absorption and ion handling in the kidneys, is under the control of aldosterone. Impairment of the mineralocorticoid signal transduction pathway results in resistance to the action of aldosterone and of mineralocorticoids in general. Herein, we review two syndromes in which ion handling in the distal nephron is impaired: pse...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- Journal of the American Society of Nephrology : JASN
دوره 17 1 شماره
صفحات -
تاریخ انتشار 2006