Bartter syndrome with hypocalcemia

Bartter syndrome with hypocalcemia is a rare form of Bartter syndrome. It is characterized by low levels of calcium (hypocalcemia), low levels of magnesium (hypomagnesemia), and low parathyroid hormone (hypoparathyroidism). It also shows features linked to a dysfunction in Henle's loop in the kidney. People with this condition may experience polyuria (frequent urination), an imbalance in blood potassium and acid levels (hypokalemic alkalosis), increased levels of plasma renin and aldosterone, as well as low blood pressure. This condition is considered a rare manifestation of autosomal dominant hypocalcemia (ADH).

Common signs include hypocalcemia, hypomagnesemia, and hypoparathyroidism. People with this condition may also experience polyuria, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, and low blood pressure along with a reduced vascular response to angiotensin II.

Bartter syndrome with hypocalcemia is linked to autosomal dominant hypocalcemia (ADH). Specific genetic details were not provided, so the exact cause is not fully detailed beyond its association with ADH.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.