Bartter Syndrome: Symptoms, Causes, Diagnosis, Treatment

Medically Reviewed by Dr. K on 13 May 2022

What Is Bartter Syndrome?

Bartter syndrome is a set of kidney-related diseases that affects a small number of people. It's inherited, which suggests a problem with a gene.

Too much salt and calcium escape the body as you urinate. It may also cause low potassium levels and high acid levels in the blood. If all of these are out of balance, you can face a number of health issues.

Bartter syndrome is divided into two types. Antenatal Bartter syndrome begins before the baby is born. It can be very dangerous, even fatal. Babies may not develop naturally in the womb or may be born prematurely.

The other type of Bartter syndrome is classified as classic. It normally begins in puberty and is less serious than the antenatal form. However, it has the potential to impair growth and trigger developmental delays.

Bartter syndrome has a subtype called Gitelman syndrome. It typically happens later in life, between the ages of 6 to adulthood.

Symptoms

Symptoms range from individual to person, even for others who have the same disorder. Among the most popular are:

  • Constipation
  • Frequent urination
  • Generally unwell
  • Muscle tremors and cramps
  • Salt cravings
  • Extreme thirst
  • Disrupted growth and development

Antenatal Bartter syndrome is a disorder that can be detected when a baby is born. If there are indications that the baby's kidneys aren't functioning well because there is so much fluid in the womb, it can be detected.

This sort of condition causes newborns to urinate a lot and may cause:

  • High fevers are very dangerous.
  • Dehydration
  • Diarrhea
  • Vomiting
  • Face shapes that are unusual, triangle-shaped face, a high nose, and large pointed ears
  • Disrupted growth
  • Deafness at birth

 

Causes

Genes provide instructions that help your body function properly. Where a gene is impaired, genetic disorders may develop (called a mutation).

At least five genes have been related to Bartter syndrome, and they all play a role in the way your kidneys work, including your ability to absorb salt. Salt waste (losing so much salt by urination) will influence how your kidneys take in other nutrients including potassium and calcium.

A lack of balance in these components may trigger serious issues, including:

  • Salt deficiency can cause dehydration, constipation, and excessive urination
  • Calcium deficiency can damage bones and lead to kidney stones.
  • Potassium deficiency may cause muscle weakening, cramping, and fatigue.

Diagnosis and Treatment

A specialist will do a thorough examination as well as blood and urine tests for children who have signs of classic Bartter syndrome. Checking the amniotic fluid in the foetus will detect the antenatal form before delivery.

It is also possible to do genetic tests. Blood and possibly small samples of tissue may be taken by your child's doctor so that a specialist will look for mutations.

When the child has been hospitalised, a team of clinicians, including paediatricians, renal specialists, and health professionals, will be interested in their recovery. One or more of the following can be proposed to ensure that they achieve a healthy balance of fluids and other important factors:

  • Indomethacin – an anti-inflammatory medication that helps to produce less urine
  • Potassium-sparing diuretics – helps to retain potassium
  • RAAS inhibitors – prevents potassium loss
  • Calcium, potassium or magnesium supplements or a combination
  • Food high in salt, water, and potassium
  • Fluids given directly via IV line

People with Bartter syndrome will continue to take those drugs or supplements for the rest of their lives as there is no treatment.

Sources

Referenced on 2.3.2021:

  1. National Organization for Rare Disorders: “Bartter's Syndrome."
  2. National Institutes of Health/Genetics Home Reference: “Bartter Syndrome."
  3. Merck Manual, Consumer Version: “Bartter Syndrome and Gitelman Syndrome."
  4. https://www.webmd.com/children/bartter-syndrome-facts#1

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