Name
BARTTER SYNDROME
DESCRIPTION
DETAIL
CAUSE : INHERITED AS AUTOSOMAL RECESSIVE TRAIT* URINARY CALCIUM- HYPERCALCIURIA CAUSING NEPHROCALCINOSIS * SERUM POTASSIUM - HYPOKALEMIA * PROSTAGLANDIN E PRODUCTION IS VERY HIGH
TYPENOTES
o Bartter syndrome is an autosomal recessive disorder. Both parents carry at least 1 gene for the disorder. Statistically, only 1 of 4 siblings is completely healthy.Medical Care: " Since first described in 1962, several types of medical treatment have been used. o Sodium and potassium supplements are used for the electrolyte imbalances, and aldosterone antagonists and diuretic spironolactone are mainstays of therapy. o ACE inhibitors are used to counteract the effects of ANG II and aldosterone. o Indomethacin is used to decrease prostaglandin excretion. " Growth hormone (GH) is used to treat short stature. " Calcium or magnesium supplements may occasionally be needed if tetany or muscle spasms are present. Surgical Care: " Bartter and Gitelman syndromes, by themselves, do not lead to chronic renal insufficiency; however, in patients with these syndromes who develop end-stage renal disease (ESRD) for other reasons, transplants from living relatives are an option and result in normal urinary handling of sodium, potassium, calcium, and magnesium. o Reports of renal transplants from living relatives in ESRD patients with Bartter syndrome suggest that many endocrinologic abnormalities in Bartter syndrome improve or normalize after transplantation. o Because the genetic abnormality in Bartter syndrome may be found only in the kidneys (which is certain in Na-K-Cl cotransporter but may not be the case for some of the other mutations), transplantation corrects the problem by replacing unhealthy kidneys with normal ones. o Bartter syndrome is an autosomal recessive disorder. Both parents carry at least 1 gene for the disorder. Statistically, only 1 of 4 siblings is completely healthy. o Whether carrying 1 gene for this abnormality leads to long-term problems late in life if 1 kidney is removed is unknown. " Transplants from living unrelated persons or cadavers are options for patients with ESRD. Diet: " Adequate salt and water intake are necessary to prevent hypovolemia. " Adequate potassium intake is essential to replace urinary potassium losses. " With growth retardation, adequate overall nutritional balance (protein-calorie intake) is important. Whether other diet supplements (eg, citrate, magnesium, vitamins) are helpful is not clear.
RELATED DISEASE
Not Available Disease
DISEASE
INVESTIGATION
SERUM POTASSIUM, COMPLETE BLOOD COUNT