Learn More
BACKGROUND Gitelman syndrome (GS) most often results from mutations in the thiazide-sensitive sodium chloride cotransporter (NCC). Although the severity of symptoms may vary in patients who have the same mutations, a markedly different clinical presentation in family members with identical mutations is truly rare. METHODS Five patients (3 women and 2 men)(More)
BACKGROUND Thyrotoxic periodic paralysis (TPP) commonly precedes the overt symptoms and signs of hyperthyroidism and may be misdiagnosed as other causes of paralysis (non-TPP). Because the cardiovascular system is very sensitive to elevation of thyroid hormone, we hypothesize that electrocardiographic manifestations may aid in early diagnosis of TPP. (More)
Hypokalemic periodic paralysis (hypoKPP) is characterized by episodic flaccid paralysis of muscle and acute hypokalemia during attacks. Familial forms of hypoKPP are predominantly caused by mutations of either voltage-gated Ca(2+) or Na(+) channels. The pathogenic gene mutation in non-familial hypoKPP, consisting mainly of thyrotoxic periodic paralysis(More)
BACKGROUND Insulin resistance, a strong risk factor for atherosclerotic vascular disease, is present in uremic patients without diabetes on continuous ambulatory peritoneal dialysis (CAPD) therapy. Amelioration of insulin resistance may reduce associated long-term cardiovascular complications. The aim of the study is to investigate the effects of(More)
Potassium supplements have been recommended to hasten recovery and prevent cardiopulmonary complications in patients with thyrotoxic periodic paralysis (TPP). However, this recommendation has not yet been proven efficacious. Thirty-two patients with acute attacks of TPP over a 3-year-period were divided into 2 groups. Group A (n = 12) was a control group(More)
CONTEXT AND OBJECTIVE Genotype, phenotype, and follow-up analysis is rarely performed in a large number of patients with Gitelman's syndrome (GS) caused by mutations in SLC12A3 encoding the thiazide-sensitive NaCl cotransporter. DESIGN, SETTING, AND PATIENTS One hundred seventeen Taiwanese GS patients (70 males and 47 females, age 24 ± 10 yr) with SLC12A3(More)
BACKGROUND Adiponectin, a novel adipocytokine with antiinflammatory and antiatherosclerosis properties, has been found to be an inverse predictor of cardiovascular outcomes among uremic patients on hemodialysis. However, its role in uremic patients on continuous ambulatory peritoneal dialysis (CAPD) remains unclear. The aim of the study was to evaluate the(More)
Mammalian TRP channel proteins form six-transmembrane cation-permeable channels that may be grouped into six subfamilies on the basis of amino acid sequence homology (TRPC, TRPV, TRPM, TRPA, TRPP, and TRPML). Recent studies of TRP channels indicate that they are involved in numerous fundamental cell functions and are considered to play an important role in(More)
Inactivation mutations of the luminal thiazide-sensitive NaCl cotransporter (NCC) in the distal convoluted tubules or the basolateral chloride channel (CLCNKB) in the distal nephron are the most common genetic mutations in Gitelman's syndrome (GS) or Bartter's syndrome (BS). We conducted clinical and molecular studies in Chinese patients with GS or BS.(More)
Inactivation of the thiazide-sensitive sodium chloride cotransporter (NCC) due to genetic mutations in Gitelman's syndrome (GS) or pharmacological inhibition with thiazide diuretics causes hypocalciuria and increased bone mineral density (BMD) with unclear extrarenal calcium (Ca(2+) ) regulation. We investigated intestinal Ca(2+) absorption and bone Ca(2+)(More)