Acute pseudogout – Measure serum magnesium

2019 ◽  
Vol 56 (3) ◽  
pp. 411-414
Author(s):  
RM Gama ◽  
N Barkham ◽  
J Ward ◽  
R Gama ◽  
I Borovickova
Keyword(s):  
Metabolic Disease ◽  
Serum Magnesium ◽  
Left Knee ◽  
Gitelman Syndrome ◽  
Homozygous Mutation ◽  
Younger Patients ◽  
Slc12a3 Gene

We report a 49-year-old woman with an acute swollen left knee due to acute pseudogout with chondrocalcinosis as a presenting feature of Gitelman syndrome due a novel homozygous mutation of the SLC12A3 gene. This report highlights the under-recognized importance of excluding metabolic disease, including Gitelman syndrome, in younger patients whose sole presenting feature may be chondrocalcinosis with or without pseudogout, as this may impact on management and risk of further episodes. We also suggest that chondrocalcinosis and hypomagnesaemia with or without hypokalaemia are diagnostic of Gitelman syndrome.

scholarly journals Gitelman Syndrome: A Rare Cause of Persistent Hypokalemia

2020 ◽  
Vol 3 (4) ◽  
pp. 146-149
Author(s):  
Silva Duarte ◽  
◽  
Pinto Pedro ◽  
Costa Miguel ◽  
Barreiros Catia ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Disease Recurrence ◽  
Gitelman Syndrome ◽  
Homozygous Mutation ◽  
Slc12a3 Gene ◽  
Sodium Chloride Cotransporter ◽  
Risk Of Disease ◽  
Secondary Hyperaldosteronism ◽  
Renal Tubular ◽  
Renal Tubular Disease

Gitelman syndrome is a rare autosomal recessive renal tubular disease, caused by mutations in the SLC12A3 gene, which encodes the renal thiazide-sensitive sodium-chloride cotransporter (NCCT) in the distal renal convoluted tubule. We present a 48-years-old male referred to our observation after being considered not suitable to a previous proposed surgery due to persistent hypokalemia. No valued symptoms were described. Laboratory tests showed metabolic alkalosis, hypomagnesemia, hypokalemia and secondary hyperaldosteronism. Genetic test was performed and sequence analysis of the SLC12A3 gene revealed a homozygous mutation confirming this disease. The aim of this report is to remind and increase awareness of the existence of GS, manage the condition properly and consider the risk of disease recurrence to the next generations.

scholarly journals SUN-LB133 Analysis of Clinical Characteristics and Gene Mutation in Four Cases of Gitelman Syndrome

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Bin Yao
Keyword(s):  
Gene Mutation ◽  
Metabolic Alkalosis ◽  
Clinical Characteristics ◽  
Gene Mutations ◽  
Gitelman Syndrome ◽  
Compound Heterozygous ◽  
Homozygous Mutation ◽  
Slc12a3 Gene ◽  
Renal Tubular Disorder ◽  
Renal Tubular

Abstract Gitelman syndrome is an autosomal recessive renal tubular disorder characterized by renal salt wasting with secondary hyperreninemia and hyperaldosteronism, chronic hypokalemia with renal K wasting and metabolic alkalosis, and hypomagnesemia, and hypocalciuria. GS was found to be caused by mutations in SLC12A3 encoding the thiazide-sensitive sodium chloride cotransporter (NCCT) on the apical membrane of distal convoluted tubule. The prevalence worldwide is estimated at approximately 1:40,000, making it one of the most frequent inherited renal tubular disorders. To date, over 400 mutations scattered throughout SLC12A3 have been identified in GS patients. The majority of patients are compound heterozygous for SLC12A3 mutations, but a significant number of GS patients are found to carry only a single SLC12A3 mutation. The type of the SLC12A3 mutation may be a determinant factor in the severity of GS. The purpose of this study is to analyze clinical characteristics and gene mutation in four cases of GS. Methods: Four patients with closely resembling Gitelman syndrome was selected. Results: Six SLCl2A3 gene mutations were found in these four patients. There were one SLCl2A3 homozygous mutation in case 1 and case 3, and two SLCl2A3 heterozygous mutations in case 2 and case 4, respectively. This six gene mutations include missense mutations, frameshift mutations, and nonsense mutations. Four patients were diagnosed with Gitelman syndrome. Case 4 is the most severe with severe hypokalemia, accompanied by ventricular arrhythmias, which may be related to the presence of two SLC12A3 gene mutations in the patient. Conclusions: Four patients in this study were diagnosed with Gitelman syndrome based on their clinical characteristics and genetic testing results. For patients with hyperreninemia and hyperaldosteronism, chronic hypokalemia with renal K wasting and metabolic alkalosis, and hypomagnesemia, and hypocalciuria need to exclude Gitelman syndrome. Key words: Gitelmen Syndrome, Mutations, SlC12A3 gene

A novel SLC12A3 gene homozygous mutation of Gitelman syndrome in an Asian pedigree and literature review

2015 ◽  
Vol 39 (3) ◽  
pp. 333-340 ◽  
Author(s):  
Q. Lü ◽  
Y. Zhang ◽  
C. Song ◽  
Z. An ◽  
S. Wei ◽  
...  
Keyword(s):  
Literature Review ◽  
Gitelman Syndrome ◽  
Homozygous Mutation ◽  
Slc12a3 Gene

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

Gitelman Syndrome in a Pregnant Woman

2021 ◽  
Author(s):  
Feifei Huo ◽  
Nan Li ◽  
Dong Zhang
Keyword(s):  
Treatment Guidelines ◽  
Case Reports ◽  
Serum Magnesium ◽  
Clinical Manifestations ◽  
Fetal Outcome ◽  
Gitelman Syndrome ◽  
Renal Tubules ◽  
Loss Of Function ◽  
Sodium Chloride Cotransporter ◽  
Laboratory Examinations

Abstract Background: Gitelman syndrome (GS) is an autosomal recessive inherited salt-losing tubulopathy resulted from a loss-of-function mutation in the gene SLC12A3 encoding the thiazide-sensitive sodium-chloride cotransporter (NCCT) protein located in the distal renal tubules. Investigations revealed hypokalemia, metabolic alkalosis, hypomagnesemia, hypocalciuria and increased activity of renin-angiotensin-aldosterone system. There have been very few case reports on Gitelman syndrome in pregnancy, and some cases showed adverse consequences of the fetus.Case presentation: We presented a case report of a pregnant female with hypokalemia, a large amount of intravenous potassium was required to maintain a relatively normal level of serum potassium.Therefore, further laboratory examinations and whole blood DNA sequencing were carried out. The patient was eventually diagnosed with Gitelman syndrome. In terms of treatment, the amount of potassium supplementation was gradually reduced, and magnesium supplementation was intermittently provided at the same time to maintain the patient's serum potassium at about 3.0mmol/L and serum magnesium at about 0.8mmol/L. Obstetric ultrasound during hospitalization indicated normal fetal development, and the patient was discharged from hospital after her condition improved.Conclusions: The clinical manifestations of GS are non-specific, and there is a lack of evidence-based treatment guidelines for pregnant GS patients, so multidisciplinary management of pregnant GS women is essential. Treatment should be cautious and individual, and the electrolytes should be closely monitored to avoid complications caused by electrolyte disturbance and strive to obtain a good maternal and fetal outcome.

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
Sign in / Sign up

Export Citation Format

Share Document