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Bartter syndrome is a rare genetic disorder that causes specific defects in kidney function. Over the past few years, it is observed that different terminologies have been used to describe Bartter syndrome. Some classify Bartter syndrome on the basis of its clinical appearance, whereas others classify it on the basis of its underlying mutated gene. On the basis of the underlying gene mutation, Bartter syndrome can be classified as Bartter syndrome type 1, type 2, type 3, type 4a and 4b and Gitelman syndrome.The Market Research Survey by “Fact.MR, A Market Research and Competitive Intelligence Provider” highlights the key reasons behind the increasing demand for Bartter Syndrome Treatment Market.

Presently, according to the National Organization for Rare Disorders (NORD), Bartter syndrome is classified under a new classification system, which is based upon the specific part of the kidney affected. This includes loop disorders, DCT disorders and combined DCT and loop disorders. Loop disorders include Bartter syndrome type 1 and type 2 and DCT disorders include Gitelman syndrome. Combined DCT and loop disorders include Bartter syndrome type 3, type 4a and 4b.

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The defects caused by Bartter syndrome impair the kidney’s ability to reabsorb salt and imbalance the fluid concentrations of various electrolytes in the body. The electrolytes affected by Bartter syndrome are generally mineral salts such as calcium, potassium, sodium, chloride and magnesium. Bartter syndrome is caused by alteration in one of the several different genes. Most of the subtypes of Bartter syndrome are inherited in an autosomal recessive manner. Bartter syndrome symptoms vary from person-to-person and its severity ranges from mild to severe. Bartter syndrome treatment aims at correcting electrolyte imbalance and includes the use of supplements and medications such as diuretics and non-steroidal anti-inflammatory drugs (NSAIDs).

The diagnosis of Bartter syndrome includes laboratory tests such as blood tests for determining serum electrolyte levels, especially renin and magnesium and aldosterone levels, and urine tests for determining the presence of prostaglandin E2 and urine electrolytes. In addition, molecular genetic testing is also used for the diagnosis of Bartter syndrome. Molecular genetic testing detects the mutations in specific genes, which causes Bartter syndrome. However, molecular genetic testing is only available at specialized laboratories as a diagnostic service.

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Bartter syndrome treatment requires lifelong administration of certain supplements and medications. Presently, there is no cure for Bartter syndrome; however, restoring the proper balance of fluids and electrolytes in the body with certain medication can effectively work as Bartter syndrome treatment. For instance, indomethacin is a nonsteroidal anti-inflammatory drug which reduces the prostaglandin levels in the body. This further reduces excess urine production and the need for potassium supplements. Indomethacin is usually an effective and well-tolerated Bartter syndrome treatment. Some patients may require medications such as potassium-sparing diuretics such as spironolactone or amiloride. Growth hormone therapy is also considered as a successful Bartter syndrome treatment.