Genetic disorders of sodium transport

Genetic disorders of sodium transport

1. Monogenic hypertension results from a mutation in a single gene, typically one that affects electrolyte transport in the distal nephron.

2. Patients with monogenic hypertension present at a young age with severe or refractory hypertension, have a strong family history of hypertension, and have typical changes in serum electrolytes.

3. Excess sodium absorption is characteristic of most genetic mutations that cause hypertension with low renin. Whereas metabolic alkalosis and hypokalemia are most common, a phenotypic variant with hyperkalemia and hyperchloremic metabolic acidosis can also be observed.

4. Mutations of sodium transport also lead to renal salt wasting. Patients with Bartter or Gitelman syndrome present typically with hypokalemia and metabolic alkalosis. Patients with PHA 1 develop salt wasting with hyperkalemia and non-gap metabolic acidosis.

15585

Sign up to receive the trending updates and tons of Health Tips

Join SeekhealthZ and never miss the latest health information

15856