Bark syndrome

Bark syndrome's disease overview

Bark syndrome is a group of similar rare diseases that affect the kidneys. The cause of the disease is genetic, which means caused by the problem with the gene.

If the patient has Bark's syndrome, a lot of salt and calcium leave the body when the patient urinates, causing low potassium concentrations and high acidic concentrations in the blood. These symptoms will imbalance in the body and cause patients with many different health problems.

There are two main types of Bark syndrome, including the pre -birth bartter syndrome, this is a serious form, even life -threatening, children may not develop as usual in the womb or have or have The premature birth. The second type is called classic, usually starting from childhood and not as serious as pre -production, but it can affect the growth of children and cause developmental delays.

Glistman syndrome is a small branch of Bark syndrome, tending to occur later, usually from 6 years of age to adulthood.

What is Bardtter syndrome and how to treat it, there will be details in the article below.

Causes of Bark syndrome's disease

Bark's syndrome caused by a genetic mutation during the child's birth and the cause of Bark's syndrome is still unknown.

At least five genes are related to Bark's syndrome and they all play an important role in how the kidneys work, especially the body's ability to absorb salt. Losing too much salt through urination can affect the absorption of other substances, including potassium and calcium. The lack of balance in these factors can lead to serious problems:

  • Too little salt can cause dehydration, constipation and frequent urination.

    • Too little calcium can weaken bones and cause kidney stones regularly.

  • Low blood potassium concentration can cause muscle, cramps and fatigue.

    • Symptoms of Bark syndrome's disease

    Symptoms may vary among different patients, even for people with the same condition. Some common symptoms include:

  • Constipation
  • urinate regularly
  • Feeling unwell

    • muscle weakness and cramps

  • Salt cravings
  • Heavy thirst
  • Leaper development than children of the same age

    • Prenatal bark syndrome can be diagnosed before birth with the symptoms of the fetal kidneys that do not work properly or have too many fluids in the uterus. >

    Bartter's infants can urinate very often and have other symptoms such as:

  • Critical high fever

    • Dehydration vomiting and diarrhea

  • Unusual facial features such as a triangular face, large forehead, large ears with sharp shape
  • Deaf at birth

    • Transmission route of Bark syndrome's diseaseBark syndrome

    Bark's syndrome is not infectious, so it is not possible to transmit from patients to healthy people. 

    People at risk for Bark syndrome's disease

    Bark's syndrome is often inherited in a diving homozygous style, which means that both copies of the pathogenic gene (a disease gene from the father and a disease gene from the mother) leads to the birth of children with symptoms. Beartter's syndrome, although parents carry a disease gene, have no signs or symptoms of Bark's syndrome. With the probability of being ill when both parents carry the gene and transmission to their children is 25% of children risk, 50% are at risk of becoming pathogens like parents and 25% of children are not infected and this child also There is no disease gene.

    The V Bardtter type syndrome is inherited by dominant gene, which means that a copy of the changing gene is enough to cause this syndrome with a probability of 50% of children.

    Prevention of Bark syndrome's disease

    Bark's syndrome is inherited, so it is difficult to take initiative in preventing it. Experts recommend avoiding getting married in case the boyfriend's family and the girlfriend's family are sick. Early detection and treatment is important, helping to ensure the best health for children.

    Diagnostic measures for Bark syndrome's disease

    Doctors suspect Bark's syndrome or gelelman syndrome in children with specific symptoms or have abnormal electrolytes in the blood and urine. Sometimes, the abnormal electrolyte concentration is found when the laboratory test is done for other examination.

    The diagnosis of one of two syndrome is confirmed by finding high levels of renin and aldosterone in the blood and high sodium, chloride and potassium levels in urine. 

    For children with symptoms of classic bark syndrome, the doctor will carefully check with blood and urine tests. For pre -birth pre -producing formula by checking the amniotic fluid in the womb.

    The genetic test can also be done. The doctor will take blood and may be small tissue samples for experts to search for genetic mutations.

    Bark syndrome's disease treatments

    When children are diagnosed to take care of their children, they need a group of experts, including pediatricians, kidney experts and social staff. To ensure the child's body balance the liquid and other important substances, one or several of the treatment can be indicated as:

  • Indomethacin, an anti -inflammatory drug that helps the child release less urine
  • Diuretics help him keep potassium
  • RAAS inhibitors, helping children not to lose potassium

    • Calcium, potassium or supplemented magnesium or combined drugs

  • Foods high in salt, water and potassium

    • Liquid directly placed into the veins (for severe infants)

  • Because there is no complete cure, people with Bardtter syndrome will need to use some lifetime drugs or supplements.

    • See also:

  • New advances in constipation treatment
  • Things to know for patients with constipation, hemorrhoids >
  • Treatment of constipation in children

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