Bartter syndrome - Dr Bhatia

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Bartter syndrome (BS) is a hereditary condition transmitted as an autosomal recessive (Bartter type 1 to 4) or
dominant trait (Bartter type 5). The disease associates hypokalemic alkalosis with varying degrees of
hypercalciuria. It is a consequence of abnormal function of the kidneys, which become unable to properly
regulate the volume and composition of body fluids due to defective reabsorption of NaCl in a specific structure
of the kidney called the " loop of Henle ". A first consequence of the tubular defect in BS is polyuria. Indeed,
high urine volume is already present during fetal life, and is responsible for particular complications of
pregnancy, i.e. polyhydramnios and premature delivery. Low potassium levels in the blood may result from
overactivity of the renin-angiotensin II-aldosterone hormone system that is essential in controlling blood
pressure. To date, at least five genes have been linked to BS, and characterize five types of BS. BS type 1 is
linked to mutations of the gene SLC12A1 (Solute carrier family 12 sodium/potassium/chloride transporters,
member 1) on chromosome 15 (15q15-q21.1). BS type 2 is linked to a gene called KCNJ1 (mapped to
chromosome 11q21-25), BS type 3 is linked to the gene ClCNKb (mapped to chromosome 1p36) while BS type
4 is linked to gene BSND (mapped to chromosome 1p31). BS type 5 is associated with activating mutations of
the CASR gene (mapped to chromosome 3q13.3-q21). Patients with BS are usually symptomatic early in life
(occasional patients with BS type 3 or type 4 may even reach adulthood with few if any manifestations), growth
is usually below the age standards and final height may also be compromised. At present, BS cannot currently
be cured, and treatment is mainly directed at correcting electrolyte disturbances, i.e. hypokalemia and possibly
hypomagnesemia.