Bartter syndrome history and symptoms

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Tayyaba Ali, M.D.[2]

Overview

Bartter syndrome is an autosomal recessive disorder that often presents in childhood and may be associated with stunted growth, mental retardation, hypokalemia, metabolic alkalosis, polyuria and polydipsia, normal to increased urinary calcium excretion, normal or mildly decreased serum magnesium concentration, hypophosphatemia and hypercalciuria.

Bartter syndrome is an autosomal recessive disorder that often presents in childhood and may be associated with the following clinical features:

Stunted growth and mental retardation^[1]^[2]
Hypokalemia
Metabolic alkalosis
Polyuria and polydipsia due to decreased urinary concentrating ability^[1]^[2]
Normal to increased urinary calcium excretion
Normal or mildly decreased serum magnesium concentration^[2]
Hypophosphatemia in occasional patients^[2]^[3]^[4], with secondary hyperparathyroidism being a possible mechanism.^[4]
Large amounts of calcium are lost through the urine (hypercalciuria), which can cause weakening of the bones (osteopenia).^[5]

The clinical manifestations are much less pronounced in heterozygotes.

Researchers induced mutations in the loop diuretic-sensitive sodium-potassium- chloride cotransporter (NKCC2). They found a normal range of blood pressure and fluid balance among heterozygous mice.^[6]

↑ ^1.0 ^1.1 Stein JH (1985). “The pathogenetic spectrum of Bartter’s syndrome”. Kidney Int. 28 (1): 85–93. doi:10.1038/ki.1985.123. PMID 4046329.
↑ ^2.0 ^2.1 ^2.2 ^2.3 Bettinelli A, Bianchetti MG, Girardin E, Caringella A, Cecconi M, Appiani AC; et al. (1992). “Use of calcium excretion values to distinguish two forms of primary renal tubular hypokalemic alkalosis: Bartter and Gitelman syndromes”. J Pediatr. 120 (1): 38–43. doi:10.1016/s0022-3476(05)80594-3. PMID 1731022.
↑ Dillon MJ, Shah V, Mitchell MD (1979). “Bartter’s syndrome: 10 cases in childhood. Results of long-term indomethacin therapy”. Q J Med. 48 (191): 429–46. PMID 120550.
↑ ^4.0 ^4.1 Sann L, David L, Bernheim J, François R (1978). “Hypophosphatemia and hyperparathyroidism in a case of Bartter’s syndrome”. Helv Paediatr Acta. 33 (3): 299–310. PMID 711493.
↑ “Bartter syndrome – Genetics Home Reference – NIH”.
↑ Takahashi N, Brooks HL, Wade JB, Liu W, Kondo Y, Ito S; et al. (2002). “Posttranscriptional compensation for heterozygous disruption of the kidney-specific NaK2Cl cotransporter gene”. J Am Soc Nephrol. 13 (3): 604–10. PMID 11856763.