Three Cases of Gitelman's Syndrome Possibly Caused by Different Mutations in the Thiazide-Sensitive Na-Cl Cotransporter

Internal Medicine

Volumn 36, Issue 8, 1997, Pages 582-585

  Takeuchi, Kazuhisa ^a   Kato, Taro ^a   Taniyama, Yoshihiro ^a   Tsunoda, Kazuo ^a   Takahashi, Nobuyuki ^a   Ikeda, Yukio ^a   Omata, Ken ^a   Imai, Yutaka ^a   Saito, Takao ^a   Ito, Sadayoshi ^a   Abe, Keishi ^a  

^a TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Bartter's syndrome; Missense mutation; Restriction fragment length polymorphism; Secondary aldosteronism

Indexed keywords

BENZOTHIADIAZINE DERIVATIVE; CARRIER PROTEIN; DIURETIC AGENT; SODIUM POTASSIUM CHLORIDE COTRANSPORTER; THIAZIDE DIURETIC AGENT;

AGED; ARTICLE; BARTTER SYNDROME; CASE REPORT; DRUG EFFECT; FEMALE; GENETICS; HUMAN; MIDDLE AGED; MUTATION; PEDIGREE; RESTRICTION FRAGMENT LENGTH POLYMORPHISM;

AGED; BARTTER SYNDROME; BENZOTHIADIAZINES; CARRIER PROTEINS; DIURETICS; FEMALE; HUMANS; MIDDLE AGED; MUTATION; PEDIGREE; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; SODIUM CHLORIDE SYMPORTER INHIBITORS; SODIUM-POTASSIUM-CHLORIDE SYMPORTERS;

EID: 0031202897     PISSN: 09182918     EISSN: None     Source Type: Journal    
DOI: 10.2169/internalmedicine.36.582     Document Type: Article

References (18)

1. Bettinelli A, Bianchetti MG, Girardin E, et al. Use of calcium excretion values to distinguish two forms of primary renal tubular hypokalemic alkalosis: Bartter and Gitelman syndromes. J Pediatr 120: 38, 1992.
2. Sutton RA, Mavichak V, Halabe A, Wilkins GE, Bartter's syndrome: evidence suggesting a distal tubular defect in a hypocalciuric variant of the syndrome. Miner Electrolyte Metab 18: 43, 1992.
3. Bartter FC, Pronove P, Gill JR Jr, MacCardle RC. Hyperplasia of juxtaglomerular complex with hyperaldosleronism and hypokalemic alkalosis. Am J Med 33: 811, 1962.
4. Gitelman HJ, Graham JB, Welt LG. A new familial disorder characterized by hypokalemia and hypomagnesemia. Trans Assoc Am Physicians 79: 221, 1966.
5. Simon DB, Karet FE, Hamdan JM, DiPietro AD, et al. Batter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2. Nat Genet 13: 183, 1996.
6. + channel, ROMK. Nat Genet 14: 152, 1996.
7. Simon DB, Nelson-Williams C, Bia MJ, et al. Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter. Nat Genet 12: 24, 1996.
8. Takeuchi K, Kure S, KatoT, etal. Association of a mutation in thiazide-sensitive Na-Cl cotransporter with familial Gitelman's syndrome. J Clin Endocrinol Metab 81: 4496, 1996.
9. Kaplan NM, Silah JG. The effect of angiotensin II on the blood pressure in humans with hypertensive diseases. J Clin Invest 43: 659, 1964.
10. Takeuchi K, Imai Y, Omata K, et al. A case of secondary aldosteronism similar to Bartter's syndrome with no abnormality in renal chloride reabsorption. Tohoku J Exp Med 169: 141, 1993.
11. Costanzo LS. Localization of diuretic action in microperfused rat distal tubules: Ca and Na transport. Am J Physiol 248: F527, 1985.
12. Stanton BA. Cellular actions of thiazide diuretics in the distal tubule. J Am Soc Nephrol 1: 832, 1990.
13. Plotkin MD, Kaplan MR, Verlander JW, et al. Localization of the thiazide sensitive Na-Cl cotransporter, rTSC1, in the kidney. Kidney Int 50: 174, 1996.
14. Middler S. Pak CY, Murad F, Bartter FC. Thiazide diuretics and calcium metabolism. Metabolism 22: 139, 1973.
15. Gesek FA, Friedman PA. Mechanism of calcium transport stimulated by chlorothiazide in mouse distal convoluted tubule cells. J Clin Invest 90: 429, 1992.
16. Bettinelli A, Bianchetti M, Borella P, et al. Genetic heterogeneity in tubular hypomagnesemia-hypokalemia with hypocalcuria (Gitelman's syndrome). Kidney Int 47: 547, 1995.
17. Shimket RA, Warnock DC, Bositis CM, et al. Liddle's syndrome: heritable human hypertension caused by mutations in β subunit of the epithelial sodium channel. Cell 79: 407, 1994.
18. + channel. Cell 83: 969, 1995.