How can you tell the difference between barter and Gitelman syndrome?
OVERVIEW: What every practitioner needs to know The two syndromes differ biochemically in that children with Bartter syndrome commonly demonstrate hypercalciuria with normal serum magnesium levels, whereas those with Gitelman syndrome typically show low urinary calcium excretion and low serum magnesium levels.
What is Bartter and Gitelman syndrome?
Bartter syndrome (BS) and Gitelman syndrome (GS) are inherited autosomal recessive conditions resulting in defects of renal tubular excretion and reabsorption of electrolytes. A brief reminder of the physiology of renal handling of water and electrolytes homeostasis is helpful to understand these two conditions.
How do you get Gitelman syndrome?
Gitelman syndrome (GS) is a rare, salt-losing tubulopathy characterized by hypokalemic metabolic alkalosis with hypomagnesemia and hypocalciuria. The disease is recessively inherited, caused by inactivating mutations in the SLC12A3 gene that encodes the thiazide-sensitive sodium-chloride cotransporter (NCC).
What is pseudo Bartter syndrome?
Pseudo Bartter syndrome (PBS) is defined as hypokalaemic hypochloraemic metabolic alkalosis in the absence of renal tubular pathology. Children with cystic fibrosis (CF) are at risk of developing electrolyte abnormalities and even PBS may occur.
What causes Bartter syndrome?
The condition is caused by a defect in the kidneys’ ability to reabsorb sodium. People affected by Bartter syndrome lose too much sodium through the urine. This causes a rise in the level of the hormone aldosterone, and makes the kidneys remove too much potassium from the body.
Is Bartter syndrome life expectancy?
Bartter and Gitelman syndromes are autosomal recessive disorders, and neither is curable. The degree of disability depends on the severity of the receptor dysfunction, but the prognosis in many cases is good, with patients able to lead fairly normal lives.