Warning Signs Of Bartter Syndrome
Bartter syndrome is a group of disorders characterized by genetically precipitated kidney function defects. The defects in Bartter syndrome make the kidney unable to effectively reabsorb salt from the blood, causing numerous electrolyte imbalances in the affected individual's body. Calcium, sodium, potassium, magnesium, and chloride are the mineral salts most commonly affected in individuals with Bartter syndrome. Mutations in one of several different genes can cause an individual to have Bartter syndrome, including the SLC12A1, KCNJ1, CLCNKB, BSND, CLCNKA, CLCNKB, and MAGED2 genes.
Diagnosis of Bartter syndrome is made with the use of a thorough clinical evaluation, blood tests, urine analysis, and molecular genetic testing. Each patient is treated differently according to their specific symptoms. Symptoms of Bartter syndrome range widely from one affected individual to the next and may have an onset anywhere from before birth through mid-adulthood.
Slower Growth And Development
Individuals who have Bartter syndrome can exhibit slower growth and development. Many subtypes of Bartter syndrome develop before the affected individual's birth. In the antenatal Bartter syndromes, abnormal functioning of the kidneys while in utero can cause excessive production of urine, leading to an accumulation of amniotic fluid around the unborn child that can cause complications like pre-term birth. Prematurity causes infants to experience a slower rate of cognitive and motor development. Issues linked to Bartter syndrome, such as frequent dehydration, vomiting, and constipation, can contribute to slower growth and development because they cause a decrease in appetite and weight loss.
Children affected by Bartter syndrome often do not reach developmental milestones as quickly as peers of the same age do. Many infants diagnosed with Bartter syndrome experience failure to thrive or fail to gain weight as expected. Delays in growth and development tend to worsen progressively as patients progress into adulthood. In affected individuals, Bartter syndrome has been implicated in the cause of adulthood short stature.
Constipation
Individuals affected by Bartter syndrome can experience constipation. When an individual is constipated, their stool is usually dry and hard, painful to pass, and may cause tissue injury. Bartter syndrome patients have a defect in the tubes of the kidneys causes too much salt excretion and subsequent fluid loss. Fluid volume depletion in the blood triggers the Renin-angiotensin-aldosterone system. Increased aldosterone levels cause hydrogen ion accumulation that results in the depletion of potassium. Low blood potassium draws more potassium out of the intestinal muscle cells into the blood. Low potassium in the intestinal muscle cells causes them to have more resistance to membranous electrical current passage.
A reduction in muscle cell contraction in the intestinal tissues results from the decreased passage of electrical currents. An individual's stool stagnates when it does not have enough contraction to move it through the gastrointestinal tract. Stagnation in the large intestine causes the colon to absorb too much fluid from the stool inappropriately. When the stool passes infrequently, is dry, and is hard, the individual experiences constipation.
