Bartter syndrome

A rare inherited defect in the thick ascending limb of the loop of Henle.

A salt-wasting nephropathy, is a hereditary disease of the kidney characterized by hypotension, hypokalemia and alkalosis leading to muscle fatigue and varying levels of fatality.

Characterized by hypokalemia, alkalosis, and normal to low blood pressure.

Two types: neonatal and classic.

Neonatal Bartter syndrome is seen between 24 and 30 weeks of gestation with excess amniotic fluid in 90% of patients.

The neonate experiences polyuria, and polydipsia, that may lead to life-threatening dehydration.

85% of infants experience hypercalciuria and nephrocalcinosis, which may progress to renal failure.

With classic Bartter syndrome may have symptoms in the first two years of life, but usually diagnosed at school age or later.

Patients with classic Bartter syndrome present with polyuria, polydipsia, vomiting, growth retardation and potential to develop dehydration.

Unlike neonatal Bartter’s syndrome classic patients have normal or just slightly increased urinary calcium excretion without the development of kidney stones.

Kidney function is also in classic Bartter syndrome if the disease is treated, but occasionally patients proceed to end-stage renal failure.

Bartter’s syndrome consists of hypokalaemia, alkalosis, normal to low blood pressures, and elevated plasma renin and aldosterone.

Diagnostic features include high urinary potassium and chloride despite low serum values, increased plasma renin, aldosterone and hyperplasia of the juxtaglomerular apparatus on renal biopsy.

Diagnosis requires exclusion of diuretic abuse.

Often associated with excess production of renal prostaglandins and magnesium loss.

Caused by mutations of genes encoding proteins that transport ions across renal cells in the thick ascending limb of the nephron.

Bartter syndromes can be divided into different subtypes based on the genes involved:

neonatal Bartter’s syndrome type 1 SLC12A2 (NKCC2), Na-K-2Cl symporter,

neonatal Bartter’s syndrome type 2, classic Bartter’s syndrome type 3 CLCNKB Cl- channel.

Potassium supplements are usually required for treatment , and spironolactone is also used to reduce potassium loss.

Nonsteroidal antiinflammatory drugs are helpful in patients with neonatal Bartter’s syndrome, as are

Angiotensin-converting enzyme (ACE) inhibitors.

Early diagnosis and treatment of infants and young children with Classic Bartter Syndrome may improve growth and intellectual development.

Leave a Reply

Your email address will not be published. Required fields are marked *