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| Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2 |
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| Author(s): Simon DB, Karet FE, Hamdan JM, DiPietro A, Sanjad SA, Lifton RP |
| Source: NATURE GENETICS Volume: 13 Issue: 2 Pages: 183-188 Published: JUN 1996 |
| Times Cited: 410 References: 46 |
| Abstract: Inherited hypokalaemic alkalosis with low blood pressure can be divided into two groups - Gitelman's syndrome, featuring hypocalciuria, hypomagnesaemia and milder clinical manifestations, and Bartter's syndrome, featuring hypercalciuria and early presentation with severe volume depletion. Mutations in the renal Na-Cl cotransporter have been shown to cause Gitelman's syndrome. We demonstrate linkage of Bartter's syndrome to the renal Na-K-2Cl cotransporter gene NKCC2, and identify frameshift or non-conservative missense mutations for this gene that co-segregate with the disease. These findings demonstrate the molecular basis of Bartter's syndrome, provide the basis for molecular classification of patients with inherited hypokalaemic alkalosis, and suggest potential phenotypes in heterozygous carriers of NKCC2 mutations. |
| Document Type: Article |
| Language: English |
Addresses:
1. YALE UNIV, SCH MED, BOYER CTR MOLEC MED, HOWARD HUGES MED INST, DEPT MED, NEW HAVEN, CT 06510 USA
2. YALE UNIV, SCH MED, BOYER CTR MOLEC MED, DEPT GENET, NEW HAVEN, CT 06510 USA
3. DHARAN HLTH CTR, SPECIALTY PEDIAT SERV DIV, DHAHRAN 31311, SAUDI ARABIA
4. OSPED ANTONIO CARDARELLI, DIV PEDIAT 28, I-80131 NAPLES, ITALY
5. KING FAISAL SPECIALIST HOSP & RES CTR, DEPT PEDIAT, RIYADH 11211, SAUDI ARABIA |
| Publisher: NATURE PUBLISHING CO, 345 PARK AVE SOUTH, NEW YORK, NY 10010-1707 |
| Subject Category: Genetics & Heredity |
| IDS Number: UN395 |
| ISSN: 1061-4036 |
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| | | | | | | | | Record from Web of Science® | | | | | | | | | |