Primary renal tubular hypokalemic hypomagnesemia with hypocalciuria
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 syndrome.
Specialty
Nephrology
Causes
Mutations in SLC12A3, CLCKNB, MT-TI, MT-TF
Anatomy of a Nephron; functional unit of the kidney[1]
Gitelman syndrome (GS) is an autosomal recessive kidney tubule disorder characterized by low blood levels of potassium and magnesium, decreased excretion of calcium in the urine, and elevated blood pH.[2] It is the most frequent hereditary salt-losing tubulopathy. Gitelman syndrome is caused by disease-causing variants on both alleles of the SLC12A3 gene. The SLC12A3 gene encodes the thiazide-sensitive sodium-chloride cotransporter (also known as NCC, NCCT, or TSC), which can be found in the distal convoluted tubule of the kidney.[2][3]
Disease-causing variants in SLC12A3 lead to a loss of NCC function, i.e., reduced transport of sodium and chloride via NCC. The effect is an electrolyte imbalance similar to that seen with thiazide diuretic therapy (which causes pharmacological inhibition of NCC activity).[4]
Gitelman syndrome was formerly considered a subset of Bartter syndrome until the distinct genetic and molecular bases of these disorders were identified.
^Fischer H (2013-01-31), English: This is an image of a kidney nephron and its structure., retrieved 2020-04-01
^ abNakhoul F, Nakhoul N, Dorman E, Berger L, Skorecki K, Magen D (February 2012). "Gitelman's syndrome: a pathophysiological and clinical update". Endocrine (Review). 41 (1): 53–57. doi:10.1007/s12020-011-9556-0. PMID 22169961. S2CID 5820317.
^Seyberth HW, Schlingmann KP (October 2011). "Bartter- and Gitelman-like syndromes: salt-losing tubulopathies with loop or DCT defects". Pediatric Nephrology. 26 (10): 1789–1802. doi:10.1007/s00467-011-1871-4. PMC 3163795. PMID 21503667.
^Nijenhuis T, Vallon V, van der Kemp AW, Loffing J, Hoenderop JG, Bindels RJ (June 2005). "Enhanced passive Ca2+ reabsorption and reduced Mg2+ channel abundance explains thiazide-induced hypocalciuria and hypomagnesemia". The Journal of Clinical Investigation. 115 (6): 1651–1658. doi:10.1172/JCI24134. PMC 1090474. PMID 15902302.
Gitelmansyndrome (GS) is an autosomal recessive kidney tubule disorder characterized by low blood levels of potassium and magnesium, decreased excretion...
of Bartter syndrome: neonatal and classic. A closely associated disorder, Gitelmansyndrome, is milder than both subtypes of Bartter syndrome.[citation...
(1917–2008), Soviet army officer Hana GitelmanGitelmansyndrome This page lists people with the surname Gitelman. If an internal link intending to refer...
Ochronosis Hypophosphatasia Hypothyroidism Hyperoxalemia Acromegaly Gitelmansyndrome Chondrocalcinosis does not always lead to symptoms. However, chondrocalcinosis...
syndrome and Gitelmansyndrome – syndromes with presentations analogous to taking diuretics characterized with normotensive patients Liddle syndrome –...
hyperaldosteronism can also be a symptom of genetic conditions Bartter's Syndrome and Gitelman'sSyndrome.[citation needed] When taking a blood test, the aldosterone-to-renin...
dehydrogenase and cause similar symptoms as PA. Chrétien syndrome, Gitelmansyndrome, and Liddle syndrome can cause secondary aldosteronism or pseudohyperaldosteronism...
[verification needed] Metabolic alkalosis with hypokalemia like Gitelmansyndrome and Bartter syndrome can cause tetany. Vomiting induced alkalosis and hyperventilation...
Encapsulating peritoneal sclerosis (EPS) is a chronic clinical syndrome with an insidious onset that manifests as chronic undernourishment accompanied...
coupled receptors Gilbert's syndrome, a liver enzyme disorder which can cause elevated levels of serum bilirubin Gitelmansyndrome, an autosomal recessive...
haploinsufficiency). A disease that is caused by a loss-of-function mutation is Gitelmansyndrome and cystic fibrosis. Gain-of-function mutations also called activating...
dietary sodium causes hypocalciuria. It is also common in patients with Gitelmansyndrome. Kazerooni, T (2003). "Calcium to creatinine ratio in a spot sample...
Epilepsy, Ataxia, Sensorineural deafness and Tubulopathy, the EAST syndrome (Gitelmansyndrome phenotype) reflecting roles for KCNJ10 gene products in the brain...
Yeshivas Knesses Hagedolah Hillel Jonathan Gitelman (1932-2015), American nephrologist who described GitelmanSyndrome Hillel Furstenberg (born 1935), American-Israeli...
syndrome patients. The salt wasting tubulopathy of EAST syndrome most closely resembles that of Gitelmansyndrome which is the most common syndrome affecting...
Lustig, RH; Mathias, RS; Portale, AA; Miller, WL; Gitelman, SE (5 May 2005). "Nephrogenic syndrome of inappropriate antidiuresis". The New England Journal...
results in disruptions of renal reabsorption. Examples of these disorders include Iminoglycinuria, renal tubular acidosis and Gitelmansyndrome. v t e...
PMC 3082683. PMID 21193933. Gitelman A, Hishmeh S, Morelli BN, Joseph SA, Casden A, Kuflik P, et al. (November 2008). "Cauda equina syndrome: a comprehensive review"...
also increases the preference for salt. Some diseases, including Gitelmansyndrome and the salt-wasting variant of Congenital adrenal hyperplasia, impair...
who has a translocation of the chromosomes 9 and X. Bartter's syndromeGitelmansyndrome Hypomagnesemia Hypocalcemia Konrad M, Schlingmann K, Gudermann...
expression of thiazide-sensitive Na-Cl cotransporter as a cause of Gitelman'ssyndrome Shanti Kunchaparty, Matthew Palcso, Jennifer Berkman, Heino Velázquez...
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