- Clinical Study of a Newly Diagnosed Case of Gitelman Syndrome in a Patient Monitored for Liddle Syndrome
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Park JH, Kim HY, Kim DH, Kim JW, Kim SH, Park WD
- KMID: 2387007
- Soonchunhyang Med Sci.
- 2016 Dec;22(2):136-140.
- doi: 10.0000/sms.2016.22.2.136
A 55-year-old man who had been monitored for Liddle syndrome in the nephrology division for 15 years visited again Inje University Sanggye Paik Hospital for a newly developed electrolyte disorder.... -
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- A Pedigree with c.179 Cytosine to Threonine Missense Mutation of SLC12A3 Gene Presenting Gitelman's Syndrome
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Kim Y, Kang SS, Park WY, Jin K, Kim DK, Han S
- KMID: 2328426
- Electrolyte Blood Press.
- 2016 Jun;14(1):16-19.
- doi: 10.5049/EBP.2016.14.1.16
A 42-year-old man came to the hospital presenting chest discomfort and general weakness. He had come to the hospital with the same symptoms 3 months ago and 12 years prior.... -
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- Mutations in SLC12A3 and CLCNKB and Their Correlation with Clinical Phenotype in Patients with Gitelman and Gitelman-like Syndrome
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Lee JW, Lee J, Heo NJ, Cheong HI, Han JS
- KMID: 2359991
- J Korean Med Sci.
- 2016 Jan;31(1):47-54.
- doi: 10.3346/jkms.2016.31.1.47
Gitelman's syndrome (GS) is caused by loss-of-function mutations in SLC12A3 and characterized by hypokalemic metabolic alkalosis, hypocalciuria, and hypomagnesemia. Long-term prognosis and the role of gene diagnosis in GS are... -
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- Rheumatoid arthritis accompanied by Gitelman syndrome
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Park MG, Lee JH, Kim SJ, Park SH, Park SK, Choi JS, Hwang JY
- KMID: 2400338
- Yeungnam Univ J Med.
- 2017 Jun;34(1):101-105.
- doi: 10.12701/yujm.2017.34.1.101
Gitelman syndrome is a condition caused by a mutation of the thiazide sensitive Na-Cl cotransporter gene on the distal convoluted tubule. It results in a variety of clinical features, including... -
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- Two Cases of Gitelman's Syndrome Diagnosed by Renal Clearance Study
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Kim TH, Kim SJ, Seo YK, Shim JY, Jung HL, Park MS, Kum DH
- KMID: 2335609
- J Korean Pediatr Soc.
- 2002 Mar;45(3):413-417.
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. In... -
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- Absence of intact thiazide-sensitive sodium-chloride cotransporter in the renal tissue of a Gitelman's syndrome patient
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Jang HR, Heo NJ, Son MJ, Lee JW, Lee JH, Jeon US, Shin SJ, Na KY, Joo KW, Lee JS, Cheong HI, Kim J, Han JS
- KMID: 2081172
- Korean J Med.
- 2005 Dec;69(6):642-650.
BACKGROUND: Gitelman's syndrome is an autosomal recessive renal tubular disorder characterized by hypokalemic metabolic alkalosis, hypomagnesemia, and hypocalciuria. It is known to be caused by a mutation of SLC12A3 gene... -
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