Evaluating PVALB as a candidate gene for SLC12A3-negative cases of Gitelman's syndrome. (9/47)

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A novel initial codon mutation of the thiazide-sensitive Na-Cl cotransporter gene in a Japanese patient with Gitelman's syndrome. (10/47)

We here report a novel mutation of the thiazide-sensitive Na-Cl cotransporter (TSC) (SLC12A3) gene in a Japanese patient with Gitelman's syndrome (GS). GS is characterized by a renal disorder and is associated with hypokalemia, hypomagnesemia, metabolic alkalosis and hypocalciuria arising from the defective tubular reabsorption of magnesium and potassium. This disease is reportedly caused by mutations in the TSC gene. A 52-year-old man was referred to our hospital because of sleeplessness and tinnitus. He exhibited hypokalemia, hypomagnesemia, hypocalciuria, metabolic alkalosis and hyperreninemic hyperaldosteronism. A renal clearance study revealed that the administration of furosemide decreased chloride reabsorption; however, the ingestion of thiazide failed to decrease chloride reabsorption. A diagnosis of GS was made based on the clinical features, laboratory data and renal function test results. Sequencing of the patient's genomic DNA revealed an A to T transition at the initial codon of exon 1 of the TSC gene (c1A>T). Knowledge of this novel mutation may be helpful for understanding the pathophysiology of GS and the function of TSC as well as for providing genetic counseling.  (+info)

Gitelman syndrome. (11/47)

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Tight junction claudins and the kidney in sickness and in health. (12/47)

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Function and regulation of claudins in the thick ascending limb of Henle. (13/47)

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Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis (FHHNC): compound heterozygous mutation in the claudin 16 (CLDN16) gene. (14/47)

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How much is blood pressure in the general population determined by rare mutations in renal salt-transporting proteins? (15/47)

Rare mutations in genes affecting renal salt handling cause various syndromes of hypotension and hypertension and have produced important insights into major physiological processes and their regulation. However, the question arises whether these mutations may also affect blood pressure in a more general population and may contribute to the complex control of arterial blood pressure. The group of R. Lifton has demonstrated in a large cohort from the Framingham Heart Study that inactivating mutations in several proteins mediating renal salt reabsorption in the heterozygous state are associated with significantly lower blood pressure. The frequency of such alleles may be much higher in the general population than previously anticipated and may explain at least in part the complex genetics of human hypertension.  (+info)

Heterozygous mutations of the sodium chloride cotransporter in Chinese children: prevalence and association with blood pressure. (16/47)

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