No abstract available.
Bartter Syndrome*

No abstract available.
Bartter Syndrome*

No abstract available.
Bartter Syndrome*

No abstract available.
Bartter Syndrome* ; Indomethacin

No abstract available.
Bartter Syndrome* ; Gitelman Syndrome* ; Metabolism*

Gitelman's sydnrome is a heritable renal disorder characterized by hypomagnesemia, hypokalemia and hypocalciuria. As compared to those with Bartter's syndrome, reduced urinary excretion of calcium and magesium wasting are essential features of Gitelman's syndrome. Interestingly, we have experienced a case of 32-year old man with a mixed type of Gitelman's syndrome and Bartter's syndrome, which includes normomagnesemia, normal renal magnesium excretion, and hypocalciuria. Herein we report the case of atypical Gitelman's syndrome with brief review of related literature.
Adult ; Bartter Syndrome ; Calcium ; Gitelman Syndrome* ; Humans ; Hypokalemia ; Magnesium*

Bartter Syndrome ; complications ; Diarrhea ; etiology ; Female ; Humans ; Infant ; Male ; Syndrome

Bartter Syndrome ; complications ; physiopathology ; Hoarseness ; etiology ; Humans ; Infant ; Male

A woman aged 45 years was presented with hypokalemic metabolic alkalosis and hypomagnesemia associated with renal potassium and magnesium wasting. Her 24-hour urinary calcium excretion was strikingly low despite normocalcemia and normal creatinine clearance, which is one of characteristic findings of Gitelman's syndrome (GS). She was evaluated for the responses following Mg supplementation for 10 days, which showed marked increments in serum potassium and magnesium as well as improvements of the degree of renal potassium wasting and hypocalciuria. This amelioration of abnormal biochemical pictures in this patient after Mg supplementation proposes that the hypokalemia with renal potassium wasting and hypocalciuria may be caused by abnormal Mg metabolism.
Bartter's Disease/urine ; Bartter's Disease/therapy* ; Bartter's Disease/blood ; Calcium/urine* ; Case Report ; Female ; Food, Fortified ; Human ; Hypokalemia/therapy* ; Magnesium/blood* ; Middle Age ; Syndrome

Both Gitelman syndrome and Bartter syndrome are autosomal recessively inherited renal tubular disorders characterized by hypokalemic metabolic alkalosis, salt wasting and normal to low blood pressure. Gitelman syndrome is caused by mutations in the thiazide-sensitive Na- Cl cotransporter (NCCT) and distinguished from Bartter syndrome, which is associated with mutations of several genes, by the presence of hypomagnesemia and hypocalciuria. In most of the patients with Gitelman syndrome, the disease manifests with transient episodes of muscular weakness and tetany in the adult period, but, often, is asymptomatic. We report here an 11 years-old female with Gitelman syndrome who presented with aggravation of epileptic seizure. The diagnostic work-up showed typical clinical features of metabolic alkalosis, hypokalemia, hypomagnesemia and hypocalciuria. We also identified a heterozygote mutation(642CGC(Arg)>TGC(Cys)) and an abnormal splicing in the SLC12A3 gene encoding NCCT.
Adult ; Alkalosis ; Bartter Syndrome ; Child ; Epilepsy* ; Female ; Gitelman Syndrome* ; Heterozygote ; Humans ; Hypokalemia ; Hypotension ; Muscle Weakness ; Tetany