The other types of Bartter syndrome usually have an earlier onset and a more severe phenotype. Ada Hamosh, MD, MPH If symptomatic hypokalemia is not corrected by MgCl2 administration, it can be treated by drugs that antagonize the activity of aldosterone or block the sodium channel ENaC in the collecting duct. The severity of fatigue in GS is not completely related to the degree of hypokalemia. OMIM #: #263800 (Click to access OMIM database) Disorder: Gitelman Syndrome : Also known as: HYPOMAGNESEMIA-HYPOKALEMIA, PRIMARY RENOTUBULAR, WITH HYPOCALCIURIA, POTASSIUM AND MAGNESIUM DEPLETION : Clinical; Phenotype: hypokalemic alkalosis, hypocalciuria, hypomagnesemia, renal insufficiency : Seen In: Amish Old Order Mennonite Old … GS is an autosomal recessive disorder caused by loss-of-function mutations in SLC12A3 (24), and the majority of patients exhibit homozygous or compound heterozygous mutations of SLC12A3. No use, distribution or reproduction is permitted which does not comply with these terms. Ji W, Foo JN, O'Roak BJ, Zhao H, Larson MG, Simon DB, et al. In case of acute tetany, 20% MgCl2 should be administered intravenously (0.1 mmol Mg/kg per dose) and can be repeated every 6 hours. 1.4 OMIM# of the gene(s) 600968, 602023. syndrome, Gitelman (GTLMNS) OMIM ID: 263800: Human Phenotype Ontology Project (HPO) HPO: Inheritance: Autosomal recessive: Individuals reported having this disease: 34: Phenotype entries for this disease: 5: Associated with 1 gene: SLC12A3: Associated tissues … (2008) 3:22. doi: 10.1186/1750-1172-3-22, 4. Genetic counseling is important. Gitelman syndrome has an autosomal recessive pattern of inheritance. However, with the introduction of NGS, the establishment of a GS diagnosis is becoming easier in young children. doi: 10.3760/cma.j.issn.0578-1426.2017.02.005, 27. It causes swelling, local heat, and tenderness over the affected joints. The two latter conditions can be confirmed by measuring of low urinary excretion of Cl-. Gitelman syndrome (OMIM 263800) affects 1 in 40 000 individuals [] and is an autosomal recessive inherited renal disease caused by mutations in the SLC12A3 gene [], which codes for the thiazide-sensitive sodium chloride symporter (NCC) in the distal convoluted tubule [2, 3].Affected individuals typically present in late adolescence or adulthood and have a metabolic … (2008) 40:592–9. The results from a recent study in 35 GS-carriers (with one mutant gene allele) suggest that GS carriers also have lower blood pressure and may be protected from hypertension [6]. All variations and related diseases were annotated using dbSNP, 1000 Genomes Project, ExAC, ESP, OMIM, Swiss-var, HGMD, ClinVar SNP, and/or disease databases. Studies in lager cohorts are necessary to confirm this assumption. science writers and biocurators. Schwartz GJ, Gauthier B. Most patients have onset of symptoms as adults, but some can present in childhood. Kidney Int. |, https://www.frontiersin.org/articles/10.3389/fped.2021.544925/full#supplementary-material, Creative Commons Attribution License (CC BY). Introduction. Kidney Int. Found insidePathogenesis Gitelman syndrome (OMIM #263800), a milder disorder than Bartter syndrome,255 is usually diagnosed in adolescents and adults.255 It is an ... 8. Primary forms of renal hypomagnesemia can be distinguished from GS by the absence of hypokalemia.
1 GS is the most frequently occurring renal tubular disorder with a prevalence of 1:40 000 in the Caucasian population … Front. 2000, 20: 347-350. [10]. our revenue stream. Found inside – Page 38Paracellin-1 (PCLN1 — OMIM 603959, chromosome 3q27) is a member of the claudin family ... OMIM 600986, chromosome 16p13) leading to the Gitelman syndrome of ... In this study, we assessed the genotype–phenotype correlations based on the medical histories, clinical symptoms, laboratory test results, and whole-exome sequencing profiles from pediatric patients with GS. SummarySummary. Found inside – Page 223... reduced TRPM6 activity or abundance and the Gitelman syndrome (OMIM ID: 263800) of hypomagnesemia, hypocalciuria, and hypokalemic metabolic alkalosis. Google Scholar. In earlier clinical reports additional symptoms, such as ataxia, vertigo, and blurred vision have been reported. Increased plasma renin appeared in some patients (cases 1, 16, 23, 25, 27, 30, and 32). and CLCNKB genes (OMIM #602024) [3–7]. Only 3 of the 36 cases exhibited a single heterozygous mutation, which were all frameshift or splicing mutations (cases 13, 18, and 26). Definition. The 11 different types of novel mutations identified in this study are marked in red. information that you need at your fingertips. 2007, 1: 1271-1283. Amiloride should be started with caution in order to avoid hypotension. 1.3 Name of the analysed genes or DNA/chromosome segments. 1 Department of Nephrology, The Children's Hospital of Zhejiang University School of Medicine, Hangzhou, China. Articles, Stony Brook Children's Hospital, United States, College of Medicine, Eulji University, South Korea. doi: 10.1046/j.1523-1755.1998.00070.x, 15. The authors contributed to this review article. GS, which is typically detected in adolescence or adulthood, has long been considered a benign tubular lesio … volume 3, Article number: 22 (2008) Primer6 software was used for primer design, and polymerase chain reaction was performed using the QIAquick PCR Purification Kit (Qiagen, Milano, Italy). Gitelman syndrome is an autosomal recessive renal tubular salt-wasting disorder characterized by hypokalemic metabolic alkalosis with hypomagnesemia and hypocalciuria. Lü Q. Ranade VV, Somberg JC. Google Scholar. 2 Department of Endocrinology, The Children's Hospital of Zhejiang University School of Medicine, Hangzhou, China. Important acquired conditions which should be differentiated from GS are diuretic and laxative abuse and chronic vomiting. Syrén M-L, Tedeschi S, Cesareo L, Bellantuono R, Colussi G, Procaccio M, et al. However, the incidence of GS in the Chinese population is currently unclear (4). ORPHA: 358; All remaining children carried compound heterozygous mutations (24/31, 77.4%) (Table 2 and Figure 1). Multicenter study of the clinical features and mutation gene spectrum of Chinese children with dent disease. The whole-exome library was constructed using the Roche Nimble Gen Seq EZ Exome Enrichment Kit with capturing probes V2.0 (Roche, USA), and the DNA of total exons and their flanking introns were enriched. OMIM Number. The majority of these patients were male and carried at least one allele of a splice defect, resulting in a truncating transcript, or a non-functional intracellularly retained mutation (see below). Am J Physiol Renal Physiol. Salt-losing nephropathies should also be considered as possible causes of electrolyte loss. Homozygous, compound heterozygous, and heterozygous mutations in SLC12A3 were detected in 4, 24, and 3 patients, respectively. Genomic DNA was extracted from the peripheral blood of the patients using QIAamp Blood DNA Mini Kit (Qiagen, Milano, Italy) according to the manufacturer's instructions. Cite this article. The DNA samples were then stored at −20°C until analysis. J Am Soc Nephrol. Found inside – Page 750... SDHD CHR Gene/Nearest Gene Syndrome GWAS Pathway Liddle syndrome OMIM #177200 Renal electrolyte balance Gitelman syndrome OMIM #263800 Renal electrolyte ... Clinical and genetic characteristics of Gitelman syndrome in 5 pedigrees. In 1966, Gitelman et al. (2009) 161:275–83. Int J Clin Exp Pathol. All patients with GS are encouraged to maintain a high-sodium and high potassium diet. A minority of patients with the Gitelman phenotype has been shown to have mutations in the CLCNKB gene, encoding the renal chloride channel ClC-Kb, located in basolateral membrane of cells of the thick ascending limb of Henle's loop (TAL) and the distal tubules. doi: 10.1093/ndt/gfh239, 14. Correspondence to The prevalence is estimated at ~25 per million and accordingly, the prevalence of heterozygotes is approximately 1% in Caucasian populations, making it one of the most frequent inherited renal tubular disorders. Three of them were found in homozygous state; the majority were in compound heterozygotes with Gitelman syndrome. Knoers NVAM. Many mutations have been detected in the SLC12A3 gene of Gitelman syndrome (GS, OMIM 263800) patients. It is now evident that the clinical phenotype in patients with CLCNKB mutations can be highly variable, from an antenatal onset of Bartter syndrome on one side of the spectrum, to a phenotype closely resembling Gitelman syndrome at the other side (review in [9]). - Caused by mutation in the thiazide-sensitive Na-Cl cotransporter (SLC12A3, Cassandra L. Kniffin - updated : 11/5/2012, Cassandra L. Kniffin - updated : 1/11/2010, [HPO: HP:0000007 UMLS: C0441748, C4020899], [UMLS: C4554323, C0000737 HPO: HP:0002027], [SNOMEDCT: 56574000, 28442001, 718402002], [SNOMEDCT: 201637001, 239832006, 239838005], [UMLS: C0553730, C0033802 HPO: HP:0000934], [UMLS: C0746674, C4552811 HPO: HP:0003324], [UMLS: C0037763, C0026821 HPO: HP:0003394], [HPO: HP:0001250 UMLS: C0014544, C0036572], [UMLS: C0004775, C0085570 HPO: HP:0001949], [UMLS: C4553966, C0020621 HPO: HP:0002900], [UMLS: C0151723, C4552839 HPO: HP:0002917], - Onset in childhood (later than in antenatal Bartter syndrome 241200), - Caused by mutation in the thiazide-sensitive Na-Cl cotransporter (SLC12A3, 600968.0001). 10.1053/j.ajkd.2003.10.018. In patients from multiple kindreds with Gitelman syndrome , Simon et al. While the OMIM database is open to the public, users seeking information about a personal SLC12A3, CLCNKB. Listen. The clinical features typically include renal salt-wasting, elevated levels of PRA and aldosterone, hypokalemia, metabolic alkalosis, hypomagnesemia, and hypocalciuria.162,163 The clinical distinction from Bartter syndrome is usually obvious. J Biol Chem. Simon DB, Nelson-Williams C, Bia MJ, Ellison D, Karet FE, Molina AM, et al. Therefore, early diagnosis of GS is important in young children to reduce the possibility of growth retardation, tetany, and seizures. This study was supported by the National Natural Foundation of China (U20A20351, 81770710), Key Research and Development Plan of Zhejiang Province (2021C03079, 2019C03028), Major projects jointly constructed by Zhejiang province and the National Health Commission (WKJ-ZJ-1908), and Natural Science Foundation of Zhejiang Province (LQ18H050001). To see all annotations for a disease, click the disease name. Part of Cookies policy. Most patients have onset of symptoms as adults, but some can present in childhood. Found inside – Page 801DISORDER INHERITANCE OMIM* PROXIMAL TUBULE Renal glucosuria AR 233100 Proximal ... DISTAL TUBULE Gitelman's syndrome AR 263800 Familial hypomagnesemia with ... Found inside – Page 77Wilms tumors can also occur as a feature ofDenys-Drash syndrome ... as well as the mild Gitelman syndrome of adolescence and adulthood (OMIM 607364). Kidney Int. In general, growth is normal in GS patients, however, it can be delayed in patients with severe hypokalemia and hypomagnesemia [2]. “True” Bartter syndrome and Gitelman syndrome have in common a markedly reduced salt transport in the distal renal nephron. Therefore, there is an indication to screen the CLCNKB gene in patients with the Gitelman phenotype who do not have mutations in the SLC12A3 gene. (1998) 9:819–26. (2007) 18:2649–52. 2004, 287: F195-F203. Arch Dis Child. Methods: Five patients (3 women and 2 men) … The sodium chloride symporter is a protein made up of 1021 amino acids and 12 transmembrane domains. GATK software was used to call single nucleotide polymorphisms and indels (<50 bp), and non-synonymous variations with a minor allele frequency <5% were screened using SIFT. Clinical features and genetic findings in Chinese children with distal renal tubular acidosis. However, the severity of fatigue may seriously hamper some patients in their daily activities. The predicted protein changes caused by the 11 novel mutations are summarized in Figure 2: p.D323E, p.G362S, p.M143I, p.M143Ffs*10, p.W558R, p.579_580del, p.A264Gfs*47, p.T163Rfs*7, p.G720V, and p.T185Hfs*74 are indicated in hot pink, and p.I324N is marked in light pink. J Am Soc Nephrol. Sanger sequencing was used to confirm the candidate variations associated with GS. The diagnosis of Gitelman syndrome is based on the clinical symptoms and biochemical abnormalities. 2004, 19: 1398-1402. Gitelman syndrome is characterized with clinical fea-tures including hypokalemia, renal potassium wasting, metabolic alkalosis, hypomagnesemia, hypocalciuria, and RAAS activation with normal blood pressure [1]. Above all, GS patients often present with muscle weakness and fatigue caused by hypokalemia and hypomagnesemia, which contribute to a significant reduction in quality of life. 10.1053/ajkd.2001.25210. #263800 Shao L, Liu L, Miao Z, Ren H, Wang W, Lang Y, Yue S, Chen N: A novel SLC12A3 splicing mutation skipping of two exons and preliminary screening for alternative splice variants in human kidney. Found inside – Page 801DISORDER INHERITANCE OMIM* MAJOR RENAL FEATURES PROXIMAL TUBULE Renal ... 602522 AD Type V: 601199 DISTAL TUBULE Gitelman's syndrome AR 263800 Hypokalemic, ... Found inside – Page 557Gitel- man's syndrome (OMIM 263800) is an autosomal recessive ... has been described in one patient with Gitelman's syndrome.18 This syndrome is due to a ... Intrafamilial phenotype variability in patients with Gitelman syndrome having the same mutations in their thiazide-sensitive sodium/chloride cotransporter. Blood pressure is lower than that in the general population. component of our efforts to ensure long-term funding to provide you the Cardiac work-up should be offered to screen for risk factors of cardiac arrhythmias. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. A model of transport mechanisms in the DCT. PubMed Google Scholar. 2007, 22: 326-332. GS, which is typically detected in adolescence or adulthood, has long been considered a benign tubular lesion; however, the disease is associated with a significant decrease in the quality of life. A key feature differentiating Gitelman syndrome from Bartter syndrome is the urine calcium level, which will typically be high-normal in BS and low in GS. GS is arguably the most frequent inherited tubulopathy. Gitelman syndrome. Genetics Home Reference. The amniotic fluid contains high chloride levels but normal concentrations of sodium, potassium, calcium, and prostaglandin E2. Knoers NVAM, Levtchenko EN. It is the most common renal tubular disorder among … Gitelman syndrome, also referred to as familial hypokalemia-hypomagnesemia (OMIM 263800), is known as the hypomagnesemic and hypocalciuric form of Bartter-like syndromes. PubMed Bartter’s syndrome (OMIM #s: type 1, 60678; type 2, 241200; type 3, 607364; type 4a, 602522; type 4b, 613090; type 5, 300971) and Gitelman’s syndrome (OMIM # 263800) are autosomal recessive tubulopathies characterized by hypokalemia, metabolic alkalosis, activation of the renin–angiotensin–aldosterone system, high levels of angiotensin II (Ang II), but normo- or … (2001) 59:710–7. Eur J Endocrinol. Am J Kidney Dis. Google Scholar. Recently, another class of mutations in GS was identified by Riveira-Munoz et al. Endocrine and metabolic disease. This study protocol was approved by the Ethics Committee of the Children's Hospital of Zhejiang University School of Medicine. Gitelman syndrome is characterized by renal potassium loss, hypokalemia, metabolic alkalosis, hypocalciuria, hypomagnesemia, and hyperreninemic hyperaldosteronism with normal blood pressure. Furthermore, a series of drugs should be avoided for patients with GS, including drugs that slow down the sinus rhythm or influence the QT interval, drugs that can potentially exacerbate hypomagnesemia, and acetazolamide. (2017) 91:24–33. 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. In general, the long-term prognosis of Gitelman syndrome is excellent. Gitelman syndrome. Especially type III Bartter syndrome, which is caused by mutations in the CLCNKB gene, is clinically and biochemically overlapping with Gitelman syndrome. Foglia PEG, Bettineli A, Tosetto C, Cortesi C, Crosazzo L, Edefonti A, Bianchetti MG: Cardiac work up in primary hypokalemia-hypomagnesemia (Gitelman syndrome). 2008, 17: 413-8. 3 Chigene (Beijing) Translational Medical Research Center, Yizhuang, China. In GS patients with hypomagnesemia, magnesium supplementation should be considered first, which can accelerate potassium repletion to reduce the risk of tetany and other complications (29, 30). Gitelman syndrome. Found inside – Page 1409It is caused by inactivating mutations in one of at Gitelman Syndrome Pathogenesis Gitelman syndrome ( OMIM 263800 ) " is a milder disorder compared with ... The current vocabulary contains human disease, syndrome, and condition terms from Online Mendelian Inheritance in Man (OMIM database) . Found inside – Page 694Familial hypomagnesaemia (OMIM 602014) with secondary hypocalcaemia is an ... Gitelman's syndrome (OMIM 263800) is an autosomal recessive disorder of ... described a small subgroup of patients with a remarkable severe phenotype, including an early onset, severe neuromuscular manifestations, growth retardation and ventricular arrhythmias [2]. de Jong JC, Willems PHGM, Goossens M, VandeWalle A, Heuvel van den LPWJ, Knoers NVAM, Bindels RJM: Effects of chemical chaperones on partially retarded NaCl cotransporter mutants associated with Gitelman's syndrome in a mouse cortical collecting duct cell line. Found inside – Page 75The Gitelman variant is caused by a mutation in the thiazide sensitive Na-Cl co-transporter, SLC12A3, OMIM 600968. The Bartter syndrome may be due to ... Journal of endocrinological investigation. All GS patients are encouraged to maintain a high-sodium and high potassium diet. Thus, the majority of mutations belong to the so-called type 2 mutations which, in contrast to type 1 mutations that impair protein synthesis, lead to fully synthesized proteins. These type 2 mutant proteins, however, do not traffic appropriately to the plasma membrane, primarily due to protein misfolding and retention in the endoplasmic reticulum, followed by rapid proteoasomal degradation. Found inside – Page 203Mutations of the hNCC gene cause Gitelman's syndrome (GS, OMIM #263800, 600968), a condition similar to Bartter's syndrome (see section II. Gitelman et al. 9. The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. Gitelman syndrome (GS) (MIM No. Antenatal diagnosis for GS is technically feasible but not advised because of the good prognosis in the majority of patients. All patients harboring the novel mutations presented with hypokalemic metabolic alkalosis, hypomagnesemia, salt craving, and muscle weakness. Riveira-Munoz E, Chang Q, Bindels RJ, Devuyst O: Gitelman's syndrome: towards genoype-phenotype correlations?. 10.1093/ndt/gfg474. Found inside – Page 949Gitelman Syndrome detail above. Isolated Dominant Hypomagnesemia Isolated ... Only two IDH families have been Disorder OMIM # described so far (233, 234). These mutations include missense-, nonsense-, frame-shift-, and splice-site mutations and are distributed throughout the whole protein. Found insideGitelman syndrome (GS) (OMIM #263,800), also referred to as familial hypokalaemia-hypomagnesemia, is characterized by hypokalaemic metabolic alkalosis in ... Gitelman syndrome [GS; OMIM #263800] is a rare inher-ited salt-losing tubulopathy characterized by hypokalaemic metabolic alkalosis, hypomagnesemia, hypocalciuria, and hypereninemic hyperaldosteronism with normal blood pressure. Some patients experience severe fatigue interfering with daily activities, while others never complain of tiredness. accessible. Background: Gitelman syndrome (GS) most often results from mutations in the thiazide-sensitive sodium chloride cotransporter (NCC). DIAGNOSIS OF GITELMAN SYNDROME • CentoGenome® Trio identified homozygous deep intronic variant in SLC12A3 • Inherited from parents, heterozygous carriers • Disorder: Gitelman syndrome (OMIM # 263800, autosomal recessive) TESTING IMPACT • CentoGenome® Trio provided a successful diagnosis of Gitelman syndrome because it covers … Sudden cardiac arrest reported in few patients with GS [2, 5], warrants systematic cardiac screening for identifying other possible triggering mechanisms or underlying conditions. J Clin Invest. Miao Z, Gao Y, Bindels RJM, Yu W, Lang Y, Chen N, et al. Initial daily dose is 3 mmol Mg/m2/24 hrs or 4–5 mg/kg/24 hrs. All patients presented with hypokalemic metabolic alkalosis, normal blood pressure, hyperaldosteronism, and a preserved glomerular filtration rate, and 24 of the 31 (77.4%) patients had hypomagnesemia. All patients presented with hypokalemic metabolic alkalosis, normal blood pressure, hyperaldosteronism, and a preserved glomerular filtration rate, and 24/31 (77.4%) patients had hypomagnesemia. Copyright © 2021 Zhang, Huang, Wang, Fu, Wang, Shen, Lu, Chen, Bao, Feng, Dong and Mao. Peripheral blood mononuclear cells express mutated NCCT mRNA in Gitelman's syndrome: evidence for abnormal thiazide-sensitive NaCl cotransport. Between January 2014 and December 2020, 31 probands (18 male and 13 female) with a clinical diagnosis of GS were recruited from the Children's Hospital of Zhejiang University School of Medicine. Three-dimensional model of sodium chloride cotransporter (NCCT) showing the locations of the 11 novel SLC12A3 mutations, including missense, non-sense, deletion, and frameshift mutations, which resulted in the following amino acid variations: p.D323E, p.G362S, p.M143I, p.M143Ffs*10, p.W558R, p.579_580del, p.A264Gfs*47, p.T163Rfs*7, p.G720V, and p.T185Hfs*74 (hot pink), and p.I324N (light pink). BS type III, often known as classic BS (CBS), is caused by loss-of-function mutations in CLCNKB (chloride voltage-gated … Some people do not develop any symptoms (asymptomatic), while others can develop chronic issues that can impact their quality of life. Autosomal recessive. We are determined to keep this website freely In the majority of cases, symptoms do not appear before the age of six years and the disease is usually diagnosed during adolescence or adulthood. Found inside – Page 179Pseudohypoaldosteronism type IIB Gordon's syndrome OMIM #614491 16 ... Hypokalaemia Gitelman syndrome OMIM #263800 Apparent mineralocorticoid excess OMIM ... doi: 10.1007/s10157-011-0542-x, 8. 1. (2017) 56:104–11. Whole-exome sequencing identified 4 cases with homozygous mutations, 3 cases with a single heterozygous mutation, and 24 cases with compound heterogeneous mutations in the causal gene SLC12A3. Bartter syndrome (especially type III) is the most important genetic disorder to consider in the differential diagnosis of GS. Sixteen patients demonstrated growth retardation, and five patients presented with nocturia and constipation. However, plasma renin and aldosterone were not detected in every patient at diagnosis. Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy. PubMed Central We acknowledge all patients for participating in the present study. Vargas-Poussou R, Dahan K, Kahila D, Venisse A, Riveira-Munoz E, Debaix H, et al. Transient receptor potential channel subfamily M, member 6. Zhonghua Nei Ke Za Zhi. Gitelman syndrome, also referred to as familial hypokalemia-hypomagnesemia (OMIM 263800), is known as the hypomagnesemic and hypocalciuric form of Bartter-like syndromes. In addition, hypomagnesemia or hypocalciuria was not described in the records of some genetically confirmed cases; therefore, we did not confirm all of the classical GS diagnostic criteria before genetic testing. Orphanet J Rare Dis. doi: 10.1097/00045391-200109000-00008, Keywords: Gitelman's syndrome, congenital tubulopathy, genotype, mutation-genetics, phenotype [mesh], Citation: Zhang L, Huang K, Wang S, Fu H, Wang J, Shen H, Lu Z, Chen J, Bao Y, Feng C, Dong G and Mao J (2021) Clinical and Genetic Features in 31 Serial Chinese Children With Gitelman Syndrome. In contrast to BS type III, Gitelman syndrome is caused by mutations in a single gene, SLC12A3 (OMIM #263800), encoding the thiazide-sensitive sodium chloride co-transporter (NCCT) in the distal convoluted tubule [8, 9]. All authors participated in drafting of the article or key modifications of important content and approved the final version to be published. Found inside – Page 67Gitelman syndrome differs from Bartter syndrome due to the presence of ... EAST syndrome (alias SeSAME, OMIM #612780) is causes by mutations in KCNJ10, ... Sinha A, Lněnička P, Basu B, Gulati A, Hari P, Bagga A. Gitelman syndrome: novel mutation and long-term follow-up. Figure 1. Figure 2. It is the most common renal tubular disorder among Caucasians (prevalence of 1 in 40,000). No significant difference was observed in the year at diagnosis, serum potassium, serum magnesium, blood pH value, epidermal growth factor receptor (eGFR), standard base excess, plasma renin activity, and plasma aldosterone concentration between patients under or above 7 years according to age of onset (Table 1). In the great majority of cases GS is caused by mutations in the solute carrier family 12, member 3, SLC12A3 gene, which encodes the renal thiazide-sensitive sodium-chloride co-transporter NCC that is specifically expressed in the apical membrane of cells in the first part of the distal convoluted tubule (DCT) (reviewed in [9]). (2004) 43:304–12. (2005) 90:2500–7. The prevalence is estimated at approximately 1:40,000 and accordingly, the prevalence of heterozygotes is approximately 1% in Caucasian populations, making it one of the most frequent inherited renal tubular disorders. Found insideGenetic Diseases of the Kidney offers expert insight into the role of genetic abnormalities in the pathogenesis of abnormal kidney function and kidney disease. Growth retardation was present in case 25, and tetany and hyperuricemia were found in case 30. Potassium and magnesium depletion prolong the duration of the action potential of cardiomyocytes and consequently increase the risk for development of ventricular arrhythmia. Recently, next-generation sequencing (NGS) has begun to play an increasingly important role in the diagnosis of GS. This article is published under license to BioMed Central Ltd. Hum Mol Genet. Nijenhuis T, Vallon V, Kemp van der AWCM, Loffing J, Hoenderop JG, Bindels RJ: Enhanced passive Ca2+ reabsorption and reduced Mg2+ channel abundance explains thiazide-induced hypocalciuria and hypomagnesemia. Pediatr. Mutations that occur on the SLC12A3 gene range from missense, nonsense, frame-shift and splice-site mutations which occur throughout the gene. Mutations in the CLCNKB gene were previously found to be the cause of classic Bartter syndrome. Am J Kidney Dis. Fundamental data and laboratory findings in 31 consecutive children with Gitelman syndrome. doi: 10.1007/s10157-016-1284-6, 5. Gitelman syndrome is a kidney disorder that causes an imbalance of charged atoms (ions) in the body, including ions of potassium, magnesium, and calcium. Both loss-of-function mutations in NCC and mutations in CLC-Kb lead to disruption of NaCl reabsorption in the DCT (figure 1).
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