NUR 641E WK3 DQ1 Essay

Week 3 DQ1

Gitelman’s syndrome is a genetic disorder of the SLC12A3 gene that primarily leads to the reabsorption of urinary salt back into the bloodstream (NIH, 2020). The SLC12A3 gene that triggers the several circumstances of Gitelman syndrome produces a protein called thiazide-sensitive NaCl cotransporter (NCC) that aids in the transportation of salts across the kidney’s ion pathways (NORD, 2018). The mutation causes an irregular activity of the NCC protein, which carries electrolytes across the ion pathways, resulting in wastage of water and salt that leads to volume reduction. As the transportation of electrolytes is disrupted, the mismatch of the body’s main electrolytes leads to symptoms related to the imbalance. This condition does not occur until late childhood and probably into puberty. It is a recessive autosomal gene and, signs and symptoms can differ significantly between affected individuals, even those of the same family. NUR 641E WK3 DQ1 Essay

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Signs and symptoms of this condition are closely linked to the disease it causes. Signs and symptoms of Gitelman Syndrome typically occur in late childhood or puberty. Specific characteristics of this disorder include tetany, muscle fatigue or cramping, drowsiness, and salt craving. Many typical signs involve a tingling or prickling feeling in the skin, most commonly involving the neck. Any persons with Gitelman syndrome undergo excessive fatigue, hypotension, and a debilitating joint condition called chondrocalcinosis (NIH, 2020). Consideration should also be provided to life-threatening heart riffs caused by a lack of critical electrolytes such as magnesium, potassium, and calcium.

Unfortunately, there is no solution to this disease, and the recovery relies on the management of pain. Joint measures would be needed across a variety of disciplines (nephrology, car, etc.). Genetic tests will be suggested in families with this disorder. Education can play a vital role in the management of these people. A cohesive family / patient-centered solution is required. Education topics should include the symptoms of electrolyte deficiency, appropriate administration of medicines, and the pharmacological management of pain (NORD, 2018)

References

National Institute of Health. (2020). Your guide to understanding genetic conditions: Gitelman syndrome. Retrieved from https://ghr.nlm.nih.gov/condition/gitelman-syndrome#genes

National Organization for Rare Disorders. (2018). Gitelman Syndrome. Retrieved from https://rarediseases.org/rare-diseases/gitelman-syndrome/ NUR 641E WK3 DQ1 Essay