Hypeension with hyperkalemia is seen in –

Correct Answer: Gordon's syndrome
Description: GORDON&;S syndrome with identified mutations of WNK1 and WNK4 (members of a family of serine-threonine kinases) have been shown to cause the rare familial autosomal dominant disease, Gordon&;s syndrome (also known as pseudohypoaldosteronism type II). Wild-type WNK1 and WNK4 inhibit the thiazide-sensitive Na-Cl co-transpoer in the distal tubule. Mutations of these proteins are associated with gain of function and increased co-transpoer activity, excessive chloride and sodium reabsorption, and volume expansion. This syndrome is characterized by sho stature, intellectual impairment, dental abnormalities, muscle weakness, SEVERE HYPEENSION by the third decade of life, low fractional excretion of sodium, normal renal function, hyperchloremic metabolic acidosis, and low renin and aldosterone levels. Hyperkalemia, another hallmark of this syndrome, might be a function of diminished sodium delivery to the coical collecting tubule
Category: Medicine
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