Gitelman Syndrome in a School Boy Who Presented with Generalized Convulsion and Had a R642H/R642W Mutation in the<i>SLC12A3</i>Gene

Makino, Seiya; Tajima, Toshihiro; Shinozuka, Jun; Ikumi, Aki; Awaguni, Hitoshi; Tanaka, Shinichiro; Maruyama, Rikken; Imashuku, Shinsaku

doi:10.1155/2014/279389

Cited by 3 publications

(3 citation statements)

References 19 publications

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“…Makino, et al reported the case of a school boy who initially presented with a generalized convulsion that the patient has persistent hypokalemia and metabolic alkalosis. They confirmed that the patient actually had GS, based on the two mutations of the SLC12A3 gen and they claimed that a patient showing persistent hypokalemia and metabolic alkalosis should be tested for GS and, if possible, diagnosed at the genetic level, even if the patient exhibits atypical clinical symptoms [10].…”

Section: Case Reportmentioning

confidence: 90%

A Rare Cause of Seizure: Gitelman Syndrome

Nh¹,

Ea²,

Gürbüz³

et al. 2017

Journal of Neuroscience and Neuropsychology

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Section: Case Reportmentioning

confidence: 90%

A Rare Cause of Seizure: Gitelman Syndrome

Nh¹,

Ea²,

Gürbüz³

et al. 2017

Journal of Neuroscience and Neuropsychology

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“…Notably, certain individuals may remain asymptomatic, often leading to misdiagnoses as sporadic hypokalemia or hypomagnesemia. [ 3 ] Nonetheless, Severe adverse events have also been reported in the literature, encompassing growth retardation, [ 2 , 4 ] chondrocalcinosis, [ 5 ] generalized seizures, [ 6 , 7 ] non-periodic paralysis, [ 2 ] rhabdomyolysis, [ 8 ] and even cardiac arrest. [ 9 ] The course of GS typically follows a mild trajectory, characterized by predominantly modest clinical symptoms.…”

Section: Discussionmentioning

confidence: 99%

Gitelman syndrome combined with diabetes mellitus: A case report and literature review

Huang,

Wu,

Mou

et al. 2023

Medicine

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Rationale: Gitelman syndrome (GS) is an uncommon autosomal recessive tubulopathy resulting from a functional deletion mutation in the SLC12A3 gene. Its onset is typically insidious and challenging to discern, and it is characterized by hypokalemia, metabolic alkalosis, and reduced urinary calcium excretion. There is limited literature on the diagnosis and management of GS in individuals with concomitant diabetes. Patient concerns: A 36-year-old male patient with a longstanding history of diabetes exhibited suboptimal glycemic control. Additionally, he presented with concurrent findings of hypokalemia, hypomagnesemia, hypocalciuria, and metabolic alkalosis. Diagnosis: Building upon the patient’s clinical manifestations and extensive laboratory evaluations, we conducted thorough genetic testing, leading to the identification of a compound heterozygous mutation within the SLC12A3 gene. This definitive finding confirmed the diagnosis of GS. Interventions: We have formulated a detailed medication regimen for patients, encompassing personalized selection of hypoglycemic medications and targeted electrolyte supplementation. Outcomes: Following 1 week of comprehensive therapeutic intervention, the patient’s serum potassium level effectively normalized to 3.79 mmol/L, blood glucose parameters stabilized, and there was significant alleviation of clinical symptoms. Lessons: GS has a hidden onset and requires early diagnosis and intervention based on patient related symptoms and laboratory indicators in clinical practice, and personalized medication plans need to be provided according to the specific situation of the patient.

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“…Sequences were aligned to human reference genome hg19 using the Burrows-Wheeler Aligner[13]. The duplicate reads were removed by the Samblaster[14]. The INDEL was re-aligned using GATK realignment and base quality score recalibration was performed.…”

Section: Case Presentationmentioning

confidence: 99%

Novel heterozygous missense mutation of SLC12A3 gene in Gitelman syndrome: A case report

Wang¹

2019

WJCC

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BACKGROUNDTo screen for possible pathogenic loci in a patient with Gitelman syndrome by high-throughput exome sequencing and to explore the relationship between genotype and phenotype.CASE SUMMARYThe clinical data of the patient were collected. Peripheral blood samples were obtained to isolate white blood cells and extract genomic DNA. High-throughput whole exome sequencing for candidate pathogenic genes in the proband was completed by the Huada Gene Technology Co. Ltd (Shenzhen, China). Sequencing showed a novel heterozygous missense mutation (a G to A transition at nucleotide 2582) in exon 22 of the SLC12A3 gene, which resulted in a substitution of histidine for arginine at position 816 of the LRP1B protein and caused the occurrence of disease.CONCLUSIONThis is the first report of a new pathogenic mutation in SLC12A3. Further functional studies are particularly necessary to explore potential molecular mechanisms.

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Gitelman Syndrome in a School Boy Who Presented with Generalized Convulsion and Had a R642H/R642W Mutation in theSLC12A3Gene

Cited by 3 publications

References 19 publications

A Rare Cause of Seizure: Gitelman Syndrome

A Rare Cause of Seizure: Gitelman Syndrome

Gitelman syndrome combined with diabetes mellitus: A case report and literature review

Novel heterozygous missense mutation of SLC12A3 gene in Gitelman syndrome: A case report

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