Knowledge about Bartter syndrome

Bartter syndrome refers to a group of rare diseases that affect the kidneys. There are five known defective genes in people with Bartter syndrome. This disease causes a defect in the kidney’s ability to make sodium. People with Bartter syndrome lose a lot of sodium through urine. This increases the level of the hormone aldosterone and causes the kidneys to remove excess potassium from the body. This is known as potassium wasting.

Bartter’s syndrome includes a group of disorders that manifest with hypokalemia, metabolic alkalosis, hypercalciuria, and salt loss.

It has two clinical forms, one type is Antenatal, which is also called hyperprostaglandin E syndrome, and it typically manifests in infancy, and it has severe manifestations compared to the classic type, including maternal polyhydramnios, salt loss in the neonatal period, and recurrent severe attacks of dehydration. The other type is Bartter syndrome. It is classic, which shows FTT itself in childhood and a history of frequent attacks of dehydration.

In the test that we ask for, hypokalemia, metabolic alkalosis, and hypercalciuria are found, and it is caused by sodium transport disorder, chlorpotassium in the ascending branch of the arch of Henle. The loss of sodium and chlorine and the subsequent volume reduction that occurs in the body is the Renin-angiotensin II aldosterone axis. (RAA)

Aldosterone accelerates the removal of sodium from the urine and the excretion of potassium in the urine and intensifies hypokalemia. It also stimulates the release of hydrogen ions in the distal part of the nephron and worsens metabolic alkalosis. Hypokalemia stimulates the synthesis of prostaglandin, which in turn activates becomes the RAA axis. Barter syndrome is associated with 5 specific genetic disorders in the transmitters of the arch of Henle. In the pregnancy history of these, there is polyhydramnios with (or without) premature birth. The face shape is triangular and prominent ears, eyes Big size with strabismus can be seen in their examination. Consanguinity of their parents is a sign of an autosomal recessive disorder.

Older children have a history of recurrent polyuria attacks with dehydration, FTT, and classic biochemical disorders including hypokalemic metabolic akalosis. Urine sodium, potassium, and calcium levels are typically increased. Serum renin, aldosterone, and prostaglandin E are significantly elevated. Blood pressure is normal. But those with the antenatal form have a loss of salt and it leads to dehydration and hypotension. The function of the kidneys is normal. They suffer from nephrocalcinosis due to hypercalciuria, which can be seen in ultrasound. In the neonatal period with severe hypokalemia, hypercalciuria and metabolic calosis are thought of as this disease. In terms of histology, they have hyperplasia of the juxtaglomerular apparatus.

Chronic vomiting also gives a clinical picture similar to Bartter’s syndrome, but it is distinguished by measuring urine chloride, which is high in Bartter’s syndrome and low in patients with chronic vomiting. Chronic use of loop diuretics also gives a biochemical disorder similar to Bartter’s syndrome. To treat dehydration, these We prevent, correct hypokalemia and prescribe diuretics that preserve potassium (aldosterone antagonists). Despite proper treatment, serum potassium may not reach normal levels.

Indomethacin, which is a prostaglandin inhibitor, can be effective. If they have hypomagnesemia, we correct it. With care and treatment and follow-up, the prognosis of these patients is usually good. Chronic kidney failure occurs.