scholarly journals Genetic Analysis of SLC12A3 Gene in Chinese Patients with Gitelman Syndrome

2019 ◽  
Vol 25 ◽  
pp. 5942-5952 ◽  
Author(s):  
Yanmei Zeng ◽  
Ping Li ◽  
Shu Fang ◽  
Chunyan Wu ◽  
Yudan Zhang ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Gitelman Syndrome ◽  
Chinese Patients ◽  
Slc12a3 Gene

Gitelman syndrome DD thiazide diuretics abuse

Open Medicine ◽  
2014 ◽  
Vol 9 (3) ◽  
pp. 495-499
Author(s):  
Karsten Keller ◽  
Johannes Beule ◽  
Wolfgang Dippold
Keyword(s):  
Genetic Analysis ◽  
Obese Woman ◽  
Gitelman Syndrome ◽  
Thiazide Diuretics ◽  
Case Presentation ◽  
Slc12a3 Gene ◽  
Causal Therapy ◽  
Normal Urine ◽  
Urine Concentrating Ability

AbstractIntroduction. Gitelman syndrome (GS) is a rare inherited disorder. Mutations in SLC12A3 gene that encode tubular Na+Cl-cotransporter (NCCT) cause hypokalemic metabolic alkalosis, salt loss, hypomagnesaemia and hypocalciuria. The symptoms include weakness, vertigo, hypotension, tetany, paresthesia and nausea. Diagnostic criteria are a normal urine concentrating ability, normal glomerular filtration rate (GFR), hypomagnesaemia (<0,65mmol/l), hypokalemia (<3,6mmol/l) and hypocalciuria (<0,1mmol/mmol creatinine). Previously, the diagnosis was made by exclusion. Today, genetic analysis can ensure diagnosis. Thiazide diuretics (TD) abuse with similar abnormalities can make the differential diagnosis difficult. Causal therapy of GS does not exist. The substitution of potassium and magnesium are therapeutic strategies. Case presentation. A 41-year-old obese woman presented at the emergency department with recurrent episodes of hypokalemia with concomitant weakness, muscle cramps, polyuria and collapse. The results of laboratory testing of blood and urine led to the suspected diagnosis of GS. In the follow-up examinations, the results were inconsistent. Therefore, a transient thiazide diuretics abuse was assumed. Discussion. This case demonstrates the difficulties in making the diagnosis of GS on the basis of only clinical and laboratory tests, without the use of genetic analysis. The differentiation between GS and thiazide diuretic abuse is especially difficult.

Genetic analysis of SLC12A3 gene and diagnostic process in patients with Gitelman syndrome

2021 ◽  
Author(s):  
Xinyi Zheng ◽  
Shunlai Shang ◽  
Guangyan Cai ◽  
Xiangmei Chen ◽  
Qinggang Li
Keyword(s):  
Genetic Analysis ◽  
Gitelman Syndrome ◽  
Diagnostic Process ◽  
Slc12a3 Gene

Genetic Features of Chinese Patients with Gitelman Syndrome: Sixteen Novel SLC12A3 Mutations Identified in a New Cohort

2016 ◽  
Vol 44 (2) ◽  
pp. 113-121 ◽  
Author(s):  
Jun Ma ◽  
Hong Ren ◽  
Li Lin ◽  
Chunli Zhang ◽  
Zhaohui Wang ◽  
...  
Keyword(s):  
Direct Sequencing ◽  
Mainland China ◽  
Clinical Manifestations ◽  
Gitelman Syndrome ◽  
Chinese Patients ◽  
Slc12a3 Gene ◽  
Urine Protein Excretion ◽  
Pathogenic Mutations ◽  
Genetic Features ◽  
Gender Based

Background: Gitelman syndrome (GS) is an autosomal recessive renal tubulopathy caused by inactivating mutations in the SLC12A3 gene. Although hundreds of different mutations across the SLC12A3 gene have been reported worldwide, data from mainland China are limited. We investigated the clinical manifestations and genetic features of Chinese patients with GS. Methods: Fifty-four unrelated Chinese patients with clinically diagnosed GS were included. Clinical manifestations and biochemical parameters were collected and analyzed. All exons and flanking regions of the SLC12A3 and CLCNKB genes were screened by direct sequencing. Results: Weakness was the most commonly reported symptom in this cohort of patients with GS. In gender-based analyses, higher systolic blood pressure and urine protein excretion were observed in male patients. For genetic screening, 2 pathogenic SLC12A3 mutations were identified in 38 patients (70.4%), 1 mutation in 11 patients (20.4%) and no mutation in 5 patients (9.3%). In total, 42 distinct pathogenic mutations throughout SLC12A3 were identified; 16 were novel, including 9 missense, 1 deletion, 1 insertion, 3 splice site and 2 nonsense mutations. Eleven mutations were recurrently found in different patients. Among them, T60M and D486N were identified in 11 individuals. No CLCNKB mutations were found. Conclusion: Sixteen novel SLC12A3 pathogenic mutations were identified in a cohort of Chinese patients with GS. T60M and D486N were most frequent and appear to be important candidate alleles in Chinese patients with GS.

Genetic analysis of the Gitelman syndrome coexisting with Osteogenesis imperfecta

2021 ◽  
Vol 518 ◽  
pp. 116-122
Author(s):  
Se Jin Park ◽  
Ju Young Kim ◽  
Hye-Jeong Ahn ◽  
Haing-Woon Baik ◽  
Ju Hyung Kang
Keyword(s):  
Genetic Analysis ◽  
Osteogenesis Imperfecta ◽  
Gitelman Syndrome

Identification of five novel variants in the thiazide-sensitive NaCl co-transporter gene in Chinese patients with Gitelman syndrome

Nephrology ◽  
2009 ◽  
Vol 14 (1) ◽  
pp. 52-58 ◽  
Author(s):  
LING QIN ◽  
LEPING SHAO ◽  
HONG REN ◽  
WEIMING WANG ◽  
XIAOXIA PAN ◽  
...  
Keyword(s):  
Gitelman Syndrome ◽  
Chinese Patients ◽  
Transporter Gene ◽  
Novel Variants

scholarly journals A case report of Gitelman syndrome resulting from two novel mutations in SLC12A3 gene

2016 ◽  
Vol 36 (3) ◽  
pp. 304-309 ◽  
Author(s):  
Wojciech Wolyniec ◽  
Sonia Kaniuka- Jakubowska ◽  
Mato Nagel ◽  
Zuzanna Wolyniec ◽  
Lukasz Obolonczyk ◽  
...  
Keyword(s):  
Case Report ◽  
Gitelman Syndrome ◽  
Novel Mutations ◽  
Slc12a3 Gene

Novel SLC12A3 mutation in Gitelman syndrome

2021 ◽  
Vol 14 (1) ◽  
pp. e238097
Author(s):  
Rita Veríssimo ◽  
Luís Leite de Sousa ◽  
Tiago J Carvalho ◽  
Pedro Fidalgo
Keyword(s):  
Metabolic Alkalosis ◽  
Autosomal Recessive ◽  
Novel Mutation ◽  
Gene Mutations ◽  
Urinary Calcium ◽  
Gitelman Syndrome ◽  
Renal Ultrasound ◽  
Calcium Excretion ◽  
Slc12a3 Gene ◽  
Specific Symptoms

Gitelman syndrome (GS) is an autosomal recessive disease characterised by the presence of hypokalaemic metabolic alkalosis with hypomagnesaemia and hypocalciuria. The prevalence of this disease is 1–10/40 000. GS is usually associated with mild and non-specific symptoms and many patients are only diagnosed in adulthood. The disease is caused by mutations in the SLC12A3 gene. We present the case of a 49-year-old man referred to a nephrology appointment due to persistent hypokalaemia and hypomagnesaemia. Complementary evaluation revealed hypokalaemia, hypomagnesaemia, metabolic alkalosis, hyperreninaemia, increased chloride and sodium urinary excretion, and reduced urinary calcium excretion. Renal function, remainder serum and urinary ionogram, and renal ultrasound were normal. A diagnosis of GS was established and confirmed with genetic testing which revealed a novel mutation in SLC12A3 (c.1072del, p.(Ala358Profs*12)). This novel mutation extends the spectrum of known SLC12A3 gene mutations and further supports the allelic heterogeneity of GS.

scholarly journals Arg913Gln variation of SLC12A3 gene is associated with diabetic nephropathy in type 2 diabetes and Gitelman syndrome: a systematic review

2019 ◽  
Vol 20 (1) ◽  
Author(s):  
Eduardo De la Cruz-Cano ◽  
Cristina del C. Jiménez-González ◽  
Vicente Morales-García ◽  
Conny Pineda-Pérez ◽  
Juan G. Tejas-Juárez ◽  
...  
Keyword(s):  
Systematic Review ◽  
Type 2 Diabetes ◽  
Diabetic Nephropathy ◽  
Renal Disease ◽  
End Stage Renal Disease ◽  
Gitelman Syndrome ◽  
Slc12a3 Gene ◽  
Stage Renal Disease ◽  
End Stage

Abstract Background Diabetic nephropathy is a global common cause of chronic kidney disease and end-stage renal disease. A lot of research has been conducted in biomedical sciences, which has enhanced understanding of the pathophysiology of diabetic nephropathy and has expanded the potential available therapies. An increasing number of evidence suggests that genetic alterations play a major role in development and progression of diabetic nephropathy. This systematic review was focused on searching an association between Arg913Gln variation in SLC12A3 gene with diabetic nephropathy in individuals with Type 2 Diabetes and Gitelman Syndrome. Methods An extensive systematic review of the literature was completed using PubMed, EBSCO and Cochrane Library, from their inception to January 2018. The PRISMA guidelines were followed and the search strategy ensured that all possible studies were identified to compile the review. Inclusion criteria for this review were: 1) Studies that analyzed the SLC12A3 gene in individuals with Type 2 Diabetes and Gitelman Syndrome. 2) Use of at least one analysis investigating the association between the Arg913Gln variation of SLC12A3 gene with diabetic nephropathy. 3) Use of a case–control or follow-up design. 4) Investigation of type 2 diabetes mellitus in individuals with Gitelman’s syndrome, with a history of diabetic nephropathy. Results The included studies comprised 2106 individuals with diabetic nephropathy. This review shows a significant genetic association in most studies in the Arg913Gln variation of SLC12A3 gene with the diabetic nephropathy, pointing out that the mutations of this gene could be a key predictor of end-stage renal disease. Conclusions The results showed in this systematic review contribute to better understanding of the association between the Arg913Gln variation of SLC12A3 gene with the pathogenesis of diabetic nephropathy in individuals with T2DM and GS.

scholarly journals Identification of compound mutations of SLC12A3 gene in a Chinese pedigree with Gitelman syndrome exhibiting Bartter syndrome-liked phenotypes

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Bingzi Dong ◽  
Ying Chen ◽  
Xinying Liu ◽  
Yangang Wang ◽  
Fang Wang ◽  
...  
Keyword(s):  
Bartter Syndrome ◽  
Gitelman Syndrome ◽  
Slc12a3 Gene

A novel heterozygous duplication of the SLC12A3 gene in two Gitelman syndrome pedigrees: indicating a founder effect

2019 ◽  
Vol 98 (1) ◽  
Author(s):  
Pavlos Fanis ◽  
Elisavet Efstathiou ◽  
Vassos Neocleous ◽  
Leonidas A. Phylactou ◽  
Adamos Hadjipanayis
Keyword(s):  
Founder Effect ◽  
Gitelman Syndrome ◽  
Slc12a3 Gene
Sign in / Sign up

Export Citation Format

Share Document