Thursday, 27 February 2014 05:56

Bartter & Gitelman Syndrome Awareness Day

Written by  EthansCure
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Bartter syndrome is not a single disorder but rather a set of closely related kidney disorders that cause an imbalance of potassium, sodium, chloride, and related molecules in the body. It is thought to be caused by a genetic mutation in the kidneys, resulting in the body's inability to reabsorb potassium. Symptoms and their intensity, vary among the different types of bartter syndrome. In general, the syndrome is characterized by growth deficiency, potentially resulting in short stature and dwarfism; muscle weakness, dehydration and severe cramps due to loss of potassium and chloride in the urine.

 

Of the various types of this syndrome, the one known as gitelman syndrome appears generally to be the mildest and to present later in life.  The type called classic bartter syndrome usually presents in infants. Symptoms of the classic type may include salt craving, fatigue, muscle weakness, growth retardation and developmental delay. The type known as antenatal bartter syndrome is the most severe and may become life-threatening. In the newborn, it may present with fever, vomiting, diarrhea, failure to thrive, growth retardation, facial anomalies such as a triangular face, prominent forehead, large eyes, protruding ears, and drooping mouth, severe electrolyte imbalance; and high potassium and chloride excretion in the urine.

The medical community and general public offer limited support and education involving these disorders. The initial symptoms are often overlooked and can be easily confused with other illnesses and disorders. Bartter syndrome can easily be misdiagnosed and is often confused with cyclic vomiting, acid reflux, eating disorders or gastrointestinal problems. The time period from inception to diagnosis is critical. An individual that does not receive treatment will be fatal and a lag period with no treatment can cause kidney damage. It is imperative that individuals who present with bartter and gitelman syndrome symptoms be placed on proper medication. Both disorders are chronic and require lifelong treatment. Unfortunately, there has been a number of persons that have lost the battle with bartter syndrome due to misdiagnosis or lack of treatment.

The Bartter Syndrome Foundation was started to inform others about this rare and potentially fatal disorder, to offer funding into clinical research associated with bartter syndrome and help others cope with the difficulties and financial burdens associated with battling this disorder. It is the mission, duty and purpose of the Bartter Syndrome Foundation to address, educate, coordinate, and promote awareness and research of bartter syndrome. The awareness of the condition is important for early recognition; if the diagnosis gets delayed, infants may present with poor feeding, dehydration, and severe electrolyte imbalance; which can lead to dwarfism and/or mild mental retardation. The adoption a day of awareness for bartter and gitelman syndrome will ultimately promote education and advocacy to both the medical field and the community, thus increasing the understanding of this illness by the population and decreasing bartter syndrome morbidity and kidney related illnesses.

Read 58204 times Last modified on Friday, 28 February 2014 07:21

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