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. Uncover what these are now.
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.
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