Bartter syndrome

Bartter syndrome, originally described by Bartter and colleagues in 1962 represents a set

of closely related, autosomal recessive renal tubular disorders characterized by a hereditary

defect of the kidney tubules causes the kidneys to excrete excessive amounts of electrolytes

(potassium, sodium, and chloride), resulting in growth, electrolyte, and sometimes nerve and

muscle abnormalities.

There are two major forms of Bartter syndrome:

Antenatal Bartter syndrome

It starts before birth. It can be very serious, even life threatening. Babies may not grow as they should

in the womb, or they may be born too early.

Classic Barter Syndrome

It usually starts in early childhood and isn't as severe as the antenatal form. But it can affect growth

and cause developmental delays.

Pathophysiology
The kidneys filter and cleanse the blood. They also maintain the body water balance,

and dissolved salts, (such as sodium, potassium, calcium) and nutrients in the blood. The

kidneys begin these tasks by filtering the blood as it flows through microscopic tufts of blood

vessels with small pores (called glomeruli). This process moves a large amount of water and

electrolytes and other substances into small tubules. The cells lining these tubules reabsorb and

return needed water, electrolytes, and nutrients (such as glucose and amino acids) to the blood.

The cells also move waste products and drugs from the blood into the fluid (which becomes

urine) as it flows through the tubules.

 In Bartter syndrome the kidneys cannot reabsorb salt (sodium chloride) normally from

the kidney tubule. Thus, the kidneys excrete excessive amounts of the electrolytes sodium and

chloride in the urine. The loss of sodium and chloride leads to excessive urine production and

thus mild dehydration. Mild dehydration causes the body to produce more of the enzyme renin

and the hormone aldosterone, which help regulate blood pressure. The increase in aldosterone

increases potassium and acid secretion in the kidneys, leading to low blood potassium and loss

of acids in the blood that causes blood pH to be alkaline (a disorder called metabolic alkalosis.

Symptoms

Symptoms can be different for everyone, even for people with the same condition. Some

common ones include:

 Constipation

 Frequent urination

 Generally feeling unwell

 Muscle weakness and cramping

 Salt cravings

 Severe thirst

 Slower than normal growth and development

 Dehydration

 Lack of normal growth

 Children with these syndromes have symptoms that are similar to those of people who

take drugs called diuretics, which increase urine output and can cause chemical
 imbalances in the blood. However, unlike in people taking diuretics, in people with

Bartter syndrome symptoms cannot be ended by simply stopping the drug.

 Fetuses with Bartter syndrome may grow poorly while in the womb. Some children are

born prematurely and may be intellectually disabled.

 poor growth and developmental delays.

 The loss of magnesium, calcium, or potassium can lead to muscle weakness, cramping,

spasms, or fatigue.

 Children may have excessive thirst, may produce large amounts of urine, and may have

nausea and vomiting. The loss of sodium and chloride leads to chronic mild

dehydration.

 Hypotension

Diagnosis

Diagnosis is based on history, physical examination and measurement of electrolyte

levels in the blood and urine. The diagnosis of either syndrome is confirmed by finding high

levels of renin and aldosterone in the blood and high levels of sodium, chloride, and potassium

in the urine.

Genetic testing is available but usually is not done.

Treatment
 Because the defective functions of the tubule cells in the kidneys cannot be corrected.

Therefore, the focus of the treatment is symptomatic and supportive. Treatment is lifelong and

is aimed at correcting the hormonal, fluid, and electrolyte abnormalities.

o Supplements containing the substances that are lost in the urine, such as

potassium and magnesium, and also increase their fluid intake.

o Certain drugs can be helpful. People with Bartter syndrome are given

nonsteroidal anti-inflammatory drugs (NSAIDs), such as indomethacin.

o A drug that reduces excretion of potassium into the urine, such

as spironolactone (which also blocks the action of aldosterone) or amiloride, is

also needed. 

o Angiotensin-converting enzyme (ACE) inhibitors, may be advised which block

the increased production of aldosterone.

o Growth hormones for children with retarded growth.