Gitelman syndrome (GS) is a renal tubular disorder of the thiazide-sensitive sodium chloride cotransporter, which is located in the distal tubule of the loop of Henle. We present a rare case of GS complicated by severe hyponatraemia and hypophosphataemia. A 17-year-old boy was admitted to our institution with fever and lethargy. The workup revealed typical features of GS, i.e. hypokalaemia, hypomagnesaemia and metabolic alkalosis. In this report, we discuss the differential diagnoses and rationale for accepting GS as the most likely diagnosis. This case was complicated by severe hyponatraemia (115 mmol/L) and hypophosphataemia (0.32 mmol/L). We concluded that the syndrome of inappropriate secretion of antidiuretic hormones could not be ruled out and that respiratory alkalosis was the most likely aetiology of hypophosphataemia. This case report also generates an interesting discussion on water and electrolyte metabolism.
Adolescent ; Alkalosis, Respiratory ; diagnosis ; Electrolytes ; Fever ; Gitelman Syndrome ; complications ; diagnosis ; Humans ; Hyponatremia ; complications ; diagnosis ; Hypophosphatemia ; complications ; diagnosis ; Lethargy ; Male ; Vasopressins ; secretion

No abstract available.
Acidosis, Respiratory* ; Alkalosis, Respiratory*

BACKGOUND: Gitelman's syndrome is manifested by hypokalemia, metabolic alkalosis, normal blood pressure, hyperreninemic hyperaldosteronism, hypomagnesemia and hypocalciuria. This study was carried out to investigate the effects of magnesium supplementation for correcting hypokalemia in Gitelman syndrome. METHODS: A Gitelman patient without hyperaldosteronism in our hospital was studied, oral supplementation periods of regimens for 60 days were divided into eight stages (each stage is at least over 5 days) such as 1 stage:no regimen supplementation period 2 stage:spironolactone 100 mg, alone period 3 stage:spironolactone 100 mg, MgO 1 g mixed period, 4 stage:spironolactone 100 mg, alone period, 5 stage:spironolactone 100 mg, MgO 1 g mixed period, 6 stage:spironolactone 150 mg, MgO 1 g mixed period, 7 stage: spironolactone 150 mg, MgO 1.5 g mixed period, 8 stage:spironolactone 150 mg, MgO 1.5 g, KCl 3.6 g mixed period. RESULTS: The highest value of plasm [K] was 3.3 mEq/L, the lowest value of TTKG was 2.6 during 3 stage, plasm [K] had tendency to increased and TTKG decreased, however next during 4 stage, the tendency of correcting hypokalemia diminished. The highest value of plasm [K] was only 3.3 mEq/L during 7 stage, the highest value of plasm [K] was 4.6 mEq/L during 8 stage. And the highest value of plasm ionized [Mg++] was 0.44 mmol/L during MgO 1.5 g supplementation. CONCLUSION: Magnesium alone fails to completely correct potassium and magnesium depletion despite tendency of correcting. Therefore, the optimal therapeutic regimens for correcting hypokalemia in Gitelman syndrome without hyperaldosteronism would be the magnesium and additional K supplementation.
Alkalosis ; Blood Pressure ; Gitelman Syndrome* ; Humans ; Hyperaldosteronism ; Hypokalemia* ; Magnesium* ; Potassium ; Spironolactone ; Gitelman Syndrome

No abstract available.
Niemann-Pick Disease, Type A*

No abstract available.
Niemann-Pick Disease, Type A*

Acquired renal tubular disorder can be observed in various disease processes, especially autoimmune diseases. Gitelman syndrome is an autosomal recessive disease characterized by hypokalemic metabolic alkalosis, hypomagnesemia, and hypocalciuria. This disorder is caused by mutation in the SLC12A3 gene, which encodes the thiazide - ensitive NaCl cotransporter (NCCT). Acquired Gitelman syndrome has been reported and the majority has been associated with Sjogren's syndrome. The presence of circulating auto - antibodies to NCCT was suggested as a mechanism of acquired Gitelman syndrome. Treatment of acquired Gitelman syndrome was done with supplements of potassium and magnesium and prednisone was effective in some cases. Acquired Gitelman syndrome should be included in the differential diagnosis of renal involvement in patients with autoimmune diseases, especially Sjogren's syndrome.
Alkalosis ; Antibodies ; Autoimmune Diseases ; Diagnosis, Differential ; Gitelman Syndrome ; Humans ; Magnesium ; Potassium ; Prednisone ; Sjogren's 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

Gitelman syndrome is an autosomal recessive renal tubular disorder characterized by hypokalemic metabolic alkalosis, and it is distinguished from Batter syndrome by hypomagnesemia and hypocalciuria. This disorder is caused by mutation in SLC12A3 gene which encodes thiazide-sensitive Na(+)-Cl(-)cotransporter (NCCT) which is expressed in the apical membrane of cells, lining distal convoluted tubule. A 8-year old boy who presented with Rolandic epilepsy, and horseshoe kidney accidentally showed clinical features of metabolic alkalosis, hypokalemia, hypocalciuria without hypomagnesemia. So we identified a heterozygote mutation and an abnormal splicing in the SLC12A3 gene, encoding NCCT. The mutation was detected in the exon 15 and 22 of SLC12A3 gene.
Alkalosis ; Epilepsy, Rolandic ; Exons ; Gitelman Syndrome ; Heterozygote ; Hypokalemia ; Kidney ; Magnesium ; Membranes

We have experienced two patients who had hypokalemic metabolic alkalosis as well as hypomagnesemia and hypocalciuria with elevated plasma renin activity. We have performed renal clearance study after water loading, administration of furosemide and thiazide in two patients and two normal controls. Maximal free water clearance per 100 mL glomerular filtration rate(CH2O) and distal fractional chloride reabsorption[CH2O/(CH2O+CCl)] in our patients were reduced than the controls. Chloride clearance(CCl) was increased after furosemide administration but not after thiazide administration. Distal fractional chloride reabsorption[CH2O/(CH2O+CCl)] was dramatically decreased by furosemide administration in our patients, whereas thiazide had little effect on it. Fractional excretion of sodium, chloride, magnesium, calcium was increased by furosemide administration, whereas thiazide administration had little effect on this parameters. These findings suggested the presence of a defect in the distal convoluted tubule rather than in the thick ascending loop of Henle. Herein, we report two cases of Gitelman's syndrome diagnosed by renal clearace study after water loading, administration of furosemide and thiazide.
Alkalosis ; Calcium ; Filtration ; Furosemide ; Gitelman Syndrome* ; Humans ; Loop of Henle ; Magnesium Chloride ; Plasma ; Renin ; Sodium ; Water

Gitelman's syndrome is an autosomal recessive disorder characterized by hypokalemic metabolic alkalosis, hypomagnesemia, and hypocalciuria that has recently been reported to be linked to thiazide-sensitive Na-Cl cotransporter gene mutation. We have experienced one patient whose initial complaint was paresthesia of hand and feet, who had hypokalemic metabolic alkalosis, hypomagnesemia, and hypocalciuria. We report the case of Gitelman's syndrome with a brief review of related literature.
Alkalosis ; Foot ; Gitelman Syndrome ; Hand ; Humans ; Hypokalemia ; Paresthesia ; Receptors, Drug ; Sodium Chloride Symporters