Pseudohypoaldosteronism type 2D

Pseudohypoaldosteronism type 2D (PHA2D), also known as Gordon syndrome type D or familial hyperkalemic hypertension type D, is a rare genetic condition that affects how your kidneys handle salt and potassium. In this disease, the kidneys hold on to too much sodium (salt) and potassium instead of properly filtering them out. This leads to high blood pressure (hypertension) and high potassium levels in the blood (hyperkalemia), which can be dangerous if untreated. The condition is caused by mutations in the KLHL3 gene, which plays an important role in regulating a kidney salt transporter called NCC (sodium-chloride cotransporter). When this gene does not work properly, the NCC transporter becomes overactive, causing the kidneys to reabsorb too much salt and water. People with PHA2D may develop high blood pressure at a relatively young age, sometimes even in childhood or adolescence. Other common findings include high potassium levels, metabolic acidosis (too much acid in the blood), and sometimes low renin levels. The good news is that this condition often responds very well to treatment with thiazide diuretics, a type of water pill that directly blocks the overactive NCC transporter. With proper treatment, blood pressure and potassium levels can usually be brought under control, and patients can lead relatively normal lives. Early diagnosis and treatment are important to prevent long-term complications of high blood pressure, such as heart disease, stroke, and kidney damage.

Bring these to your next appointment

• Q1.What type of thiazide diuretic is best for me or my child, and what dose should we start with?,How often should blood pressure and blood potassium levels be checked?,Are there specific foods I should avoid or limit because of high potassium?,Should my family members be tested for this genetic condition?,What are the warning signs that potassium levels are dangerously high?,Will I need to take medication for the rest of my life?,Are there any medications I should avoid that could make my condition worse?

Common questions about Pseudohypoaldosteronism type 2D