1.Disorders of Electrolyte Metabolism, Bartter Syndrome and Gitelman Syndrome.
KyoSun KIM ; Kee Hyuck KIM ; Pyung kil KIM
Korean Journal of Pediatrics 2004;47(Suppl 4):S772-S784
No abstract available.
Bartter Syndrome*
;
Gitelman Syndrome*
;
Metabolism*
2.The Effects of Magnesium Supplementation for Correcting Hypokalemia in Gitelman Syndrome.
Joong Don MOON ; Sang Woong HAN ; Ho Jung KIM
Korean Journal of Nephrology 2006;25(2):213-220
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
3.A Case of Atypical Gitelman's Syndrome with Normomagnesemia and Normal Magnesium Excretion.
Jin Seok JEON ; Young Min KIM ; Hyunjin NOH ; Dong Cheol HAN
Korean Journal of Nephrology 2004;23(4):626-629
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*
4.A case of Gitelman's Syndrome with Chronic Hypotension and Normomagnesemia.
Hae Jung JUN ; Su Kyung CHO ; Sang Bun CHOI ; Jeong Sook SEO ; Sun Woo KANG ; Yeung Hoon KIM ; Mi Seon KANG ; Wan Young KIM ; Jin KIM ; Yang Wook KIM
Korean Journal of Nephrology 2007;26(4):460-464
Gitelman's syndrome is a heritable renal disorder characterized by hypomagnesemia, hypokalemia and hypocalciuria. Interestingly, we have experienced one patient who had chronic hypotension, normal serum magnesium level, normal plasma ionized magnesium level, hypokalemia and hypocalciuria. Immunohistochemistry showed the absence of NCCT staining in renal tissues of the patient. We report the case of atypical Gitelman's syndrome with a brief review of related literature.
Gitelman Syndrome*
;
Humans
;
Hypokalemia
;
Hypotension*
;
Immunohistochemistry
;
Magnesium
;
Plasma
5.Clinical Analysis of a Hypokalemic Salt-losing Tubulopathy Case.
Wei ZHENG ; Quan HONG ; Xue-Guang ZHANG ; Xiao-Dong GENG ; Guang-Yan CAI ; Xiang-Mei CHEN ; Di WU
Chinese Medical Journal 2016;129(5):601-603
Adult
;
Female
;
Gitelman Syndrome
;
therapy
;
Humans
;
Hypokalemia
;
therapy
6.Recurrent hypokalemia in an adult male: A case report on gitelman’s syndrome
Ralph Philip C. Nierre, MD ; Bayani Pocholo T. Maglinte, MD ; Jeremyjones F. Robles, MD
Philippine Journal of Internal Medicine 2023;61(2):72-76
Introduction:
Gitelman Syndrome (GS), a rare autosomal recessive inherited disorder, is frequently unrecognized in the
clinical setting. GS typically manifests with severe hypokalemia with debilitating and potentially fatal consequences if
untreated. As of writing, confirmatory genetic assays are currently unavailable in the country, and the diagnosis of GS is
primarily based on several biochemical laboratory tests. This results in the difficulty with prompt diagnosis of GS in the
locality.
Case:
We present a 52-year-old male who came in with chronic, intermittent paraparesis associated with persistent
hypokalemia. A diagnosis of GS was made biochemically based on renal wasting of potassium and magnesium,
hypocalciuria, and metabolic alkalosis. Electrolyte correction with lifelong supplementation, and administration of
Spironolactone resulted in the resolution of bilateral leg weakness. Electrolyte levels were maintained within normal limits
in the outpatient setting.
Conclusion
GS is an uncommon potentially debilitating disorder that may lead to problematic, potentially fatal
consequences to electrolyte abnormalities if left untreated. The lack of awareness and consequent delay in the diagnosis,
and the unavailability of confirmatory genetic testing remains a clinical challenge. Timely recognition and initiation of
treatment leads to early control of electrolyte levels, and better prognosis.
Gitelman&rsquo
;
s Syndrome
;
Paraparesis
;
Hypokalemia
;
Hypomagnesemia
;
Spironolactone
;
Case Report
7.Acquired Gitelman Syndrome.
Yong Kyun KIM ; Ho Cheol SONG ; Yong Soo KIM ; Euy Jin CHOI
Electrolytes & Blood Pressure 2009;7(1):5-8
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
8.A Case of Gitelman Syndrome Presented with Epileptic Seizure.
Jee Min PARK ; Jeong Tae KIM ; Jae Il SHIN ; Heung Dong KIM ; Tae Young KIM ; Hae Il CHEONG ; Jae Seung LEE
Journal of the Korean Society of Pediatric Nephrology 2004;8(1):68-73
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
9.Gitelman Syndrome with Normal Serum Magnesium.
Younghee CHEON ; Ji Hye SEO ; Hae Il CHEONG ; Yong Hoon PARK
Journal of the Korean Society of Pediatric Nephrology 2012;16(2):121-125
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
10.Two Cases of Gitelman's Syndrome Diagnosed by Renal Clearance Study.
Ju Young KI ; Hye Young KIM ; Jung Muk IM ; Kwang Sik OH ; Young Sun PARK ; Sun Gil KWON ; Jung Sung SHIN ; Mi Sung KIM ; Jung Hun JI ; Jae Ho EARM
Korean Journal of Nephrology 2001;20(6):1064-1069
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