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a pattern of symptoms indicative of some disease
a complex of concurrent things; "every word has a syndrome of meanings"

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(疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/05/29 16:00:15」(JST)

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Gitelman syndrome is an autosomal recessive kidney disorder characterized by hypokalemic metabolic alkalosis with hypocalciuria, and hypomagnesemia. It is caused by loss of function mutations of the thiazide sensitive sodium-chloride symporter (also known as NCC, NCCT, or TSC) located in the distal convoluted tubule.^[1]

Gitelman syndrome was formerly considered a subset of Bartter syndrome until the distinct genetic and molecular bases of these disorders were identified. Bartter syndrome is also an autosomal recessive hypokalemic metabolic alkalosis, but it derives from a mutation to the NKCC2 found in the thick ascending limb of the loop of Henle.^[2]

Cause

A model of transport mechanisms in the distal convoluted tubule. Sodium-chloride (NaCl) enters the cell via the apical thiazide-sensitive NCC and leaves the cell through the basolateral Cl⁻ channel (ClC-Kb), and the Na+/K+-ATPase. Indicated also are the recently identified magnesium channel TRPM6 in the apical membrane, and a putative Na/Mg exchanger in the basolateral membrane. These transport mechanisms play a role in familial hypokalemia-hypomagnesemia or Gitelman's syndrome.

Gitelman syndrome has an autosomal recessive pattern of inheritance.

Gitelman's syndrome is linked to inactivating mutations in the SLC12A3 gene resulting in a loss of function of the encoded thiazide-sensitive sodium-chloride co-transporter (NCCT). This cell membrane protein participates in the control of ion homeostasis at the distal convoluted tubule portion of the nephron.

Gitelman's syndrome is an autosomal-recessive disorder: one defective allele has to be inherited from each parent.

Presentation

People suffering from Gitelman's syndrome present symptoms which are identical to those of patients who are on thiazide diuretics^[3]

Clinical symptoms for this disease are hypochloremic metabolic alkalosis, hypokalemia, and hypocalciuria. Hypomagnesemia is present in many but not all cases. In contrast to patients with Gordon's syndrome, those suffering from Gitelman's syndrome are generally normotensive. Carriers of Gitelman's syndrome-linked mutations are often asymptomatic while some complain of mild muscular cramps or weakness expressed as fatigue or irritability. More severe symptoms such as tetany and paralysis have however also been reported. Phenotypic variations observed among patients probably result from differences in their genetic background and may depend on which particular amino acid in the NCCT protein has been mutated.

See Naesens et al. for a recent review.^[4]

Eponym

It is named for Hillel J. Gitelman (1932–2015), an American physician.^[5]^[6]^[7]

References

^ Simon DB, Nelson-Williams C, Bia MJ, Ellison D, Karet FE, Molina AM, Vaara I, Iwata F, Cushner HM, Koolen M, Gainza FJ, Gitleman HJ, Lifton RP (Jan 1996). "Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter.". Nat. Genet. 12 (1): 24–30. doi:10.1038/ng0196-24. PMID 8528245.
^ Simon DB, Karet FE, Hamdan JM, DiPietro A, Sanjad SA, Lifton RP (June 1996). "Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2". Nat. Genet. 13 (2): 183–8. doi:10.1038/ng0696-183. PMID 8640224.
^ O'Shaughnessy KM, Karet FE (2004). "Salt handling and hypertension". J. Clin. Invest. 113 (8): 1075–81. doi:10.1172/JCI200421560. PMC 385413. PMID 15085183.
^ Naesens M, Steels P, Verberckmoes R, Vanrenterghem Y, Kuypers D (2004). "Bartter's and Gitelman's syndromes: from gene to clinic". Nephron. Physiology 96 (3): p65–78. doi:10.1159/000076752. PMID 15056980.
^ synd/2329 at Who Named It?
^ Gitelman HJ, Graham JB, Welt LG (1966). "A new familial disorder characterized by hypokalemia and hypomagnesemia". Trans. Assoc. Am. Physicians 79: 221–35. PMID 5929460.
^ Unwin RJ, Capasso G (2006). "Bartter's and Gitelman's syndromes: their relationship to the actions of loop and thiazide diuretics" (PDF). CURRENT OPINION IN PHARMACOLOGY 6 (2): 208–213. doi:10.1016/j.coph.2006.01.002. PMID 16490401.

External links

The Bartter Site

UpToDate Contents

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1. バーター症候群およびギテルマン症候群 bartter and gitelman syndromes
2. 成人における低カリウム血症の原因 causes of hypokalemia in adults
3. 低マグネシウム血症の原因 causes of hypomagnesemia
4. 代謝性アルカローシスの原因 causes of metabolic alkalosis
5. 成人における低カリウム血症の臨床症状および治療 clinical manifestations and treatment of hypokalemia in adults

English Journal

Quantitation of Plasma Renin Activity in Plasma Using Liquid Chromatography-Tandem Mass Spectrometry (LC-MS/MS).

Van Der Gugten JG1,2, Holmes DT3,4.
Methods in molecular biology (Clifton, N.J.).Methods Mol Biol.2016;1378:243-53. doi: 10.1007/978-1-4939-3182-8_26.
Accurate determination of plasma renin activity (PRA) is essential for the development and maintenance of an effective screening program for primary aldosteronism (PA). PRA measurement can also be useful in the investigation of renal artery stenosis, syndrome of mineralocorticoid excess, Addison's d
PMID 26602136

Renal involvement in primary Sjögren syndrome.

François H1, Mariette X2.
Nature reviews. Nephrology.Nat Rev Nephrol.2015 Nov 16. doi: 10.1038/nrneph.2015.174. [Epub ahead of print]
Primary Sjögren syndrome (pSS) is an autoimmune disorder characterized by lymphoplasmacytic infiltration of the exocrine (salivary and lachrymal) glands that results in sicca symptoms (dryness of the eyes and mouth). Systemic complications can occur in pSS, but renal involvement is rare, affecting
PMID 26568188

Bartter/Gitelman syndromes as a model to study systemic oxidative stress in humans.

Maiolino G1, Azzolini M1, Paolo Rossi G1, Davis PA2, Calò LA3.
Free radical biology & medicine.Free Radic Biol Med.2015 Nov;88(Pt A):51-8. doi: 10.1016/j.freeradbiomed.2015.02.037. Epub 2015 Mar 12.
Reactive oxygen species (ROS) are intermediates in reduction-oxidation reactions that begin with the addition of one electron to molecular oxygen, generating the primary ROS superoxide, which in turn interacts with other molecules to produce secondary ROS, such as hydrogen peroxide, hydroxyl radical
PMID 25770663

Japanese Journal

Bartter症候群とGitelman症候群 (特集水電解質代謝異常と遺伝疾患)

Fluid management renaissance 5(3), 233-238, 2015-07
NAID 40020549186

症例報告 Gitelman症候群に合併した乾癬様皮疹に対してマグネシウム補充療法が著効した1例

臨床皮膚科 = Japanese journal of clinical dermatology 69(4), 343-347, 2015-04
NAID 40020414349

Bartter症候群/Gitelman症候群 (特集遺伝性腎疾患)

The Japanese journal of nephrology = 日本腎臓学会誌 57(4), 743-750, 2015
NAID 40020503155

「ギテルマン症候群」

Gitelman syndrome
Classification and external resources
ICD-10	N25.8 + E87.6 + E83.4
OMIM	263800
DiseasesDB	31860
eMedicine	article/238670
MeSH	D053579

　　[★]

英: Gitelman's syndrome、Gitelman syndrome
同: Gitelman症候群
関: 利尿薬。バーター症候群、Bartter症候群

概念

チアジド系利尿薬感受性Na-Cl co transporter(NCCT)の機能変異により、ナトリウム吸収が障害される疾患である。ナトリウムと塩素イオンの喪失によるhypovolemiaによりRAA系が亢進し、高アルドステロン血症を呈するが、高血圧とはならない。アルドステロンによるカリウム排泄の亢進と、集合管でのナトリウム再吸収亢進によりカリウムイオン・水素イオン排泄亢進により低カリウム血症、代謝性アルカローシスをきたす。バーター症候群と異なり、低マグネシウム血症をきたすのが特徴的である。

バーター症候群とギテルマン症候群

出典不明

	バーター症候群	ギテルマン症候群
異常部位	ヘンレの太い上行脚	遠位曲尿細管
共通点病態	二次性アルドステロン症
	低カリウム性アルカローシス
	RAA系亢進
	正常血圧
診断時年齢	6歳以下	学童～成人
成長障害	多い	無し～少ない
羊水過多	44%	0%
テタニー	少ない	多い
尿中カルシウム	正常～増加	減少
低マグネシウム血症	40%	100%
低ナトリウム血症	多い	少ない
遠位尿細管Cl再吸収	高度低下	軽度～中等度低下
多飲・多尿・脱水	中等度～高度	無～中等度

参考

1. GITELMAN SYNDROME - OMIM

http://omim.org/entry/263800

2. [charged] Bartter and Gitelman syndromes - uptodate [1]
3. [charged] Regulation of magnesium balance - uptodate [2]

「syndrome」

　　[★]

n.

症候群

[pmid8528245-1] Simon DB, Nelson-Williams C, Bia MJ, Ellison D, Karet FE, Molina AM, Vaara I, Iwata F, Cushner HM, Koolen M, Gainza FJ, Gitleman HJ, Lifton RP (Jan 1996). "Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter.". Nat. Genet. 12 (1): 24–30. doi:10.1038/ng0196-24. PMID 8528245.

[pmid8640224-2] Simon DB, Karet FE, Hamdan JM, DiPietro A, Sanjad SA, Lifton RP (June 1996). "Bartter's syndrome, hypokalaemic alkalosis with hypercalciuria, is caused by mutations in the Na-K-2Cl cotransporter NKCC2". Nat. Genet. 13 (2): 183–8. doi:10.1038/ng0696-183. PMID 8640224.

[pmid15085183-3] O'Shaughnessy KM, Karet FE (2004). "Salt handling and hypertension". J. Clin. Invest. 113 (8): 1075–81. doi:10.1172/JCI200421560. PMC 385413. PMID 15085183.

[pmid15056980-4] Naesens M, Steels P, Verberckmoes R, Vanrenterghem Y, Kuypers D (2004). "Bartter's and Gitelman's syndromes: from gene to clinic". Nephron. Physiology 96 (3): p65–78. doi:10.1159/000076752. PMID 15056980.

[5] synd/2329 at Who Named It?

[pmid5929460-6] Gitelman HJ, Graham JB, Welt LG (1966). "A new familial disorder characterized by hypokalemia and hypomagnesemia". Trans. Assoc. Am. Physicians 79: 221–35. PMID 5929460.

[7] Unwin RJ, Capasso G (2006). "Bartter's and Gitelman's syndromes: their relationship to the actions of loop and thiazide diuretics" (PDF). CURRENT OPINION IN PHARMACOLOGY 6 (2): 208–213. doi:10.1016/j.coph.2006.01.002. PMID 16490401.

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案内

案内

Gitelman syndrome