A novel homozygous mutation in the solute carrier family 12 member 3 gene in a Chinese family with Gitelman syndrome

Zhang, Y.; Zhang, F.; Chen, Dong; Lü, Qing; Tang, Lei; Yang, Chao; Liu, Ming; Tong, Nanwei

doi:10.1590/1414-431x20165261

Cited by 4 publications

(2 citation statements)

References 22 publications

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“…Moreover, the severity of GS is closely related to gender differences. Previous studies indicated that female GS patients had milder clinical symptoms than male GS patients even if the mutations were identical [ 12 , 13 ]. This feature was also observed in our case.…”

Section: Discussionmentioning

confidence: 99%

Gitelman syndrome with Graves’ disease leading to rhabdomyolysis: a case report and literature review

et al. 2023

BMC Nephrol

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A 14-year-old male patient who suffered from limb numbness, fatigue, and hypokalemia was considered Graves’ disease (GD) complicated with thyrotoxic periodic paralysis (TPP) at the first diagnosis. Although with the treatment of antithyroid drugs, he developed severe hypokalemia and rhabdomyolysis (RM). Further laboratory tests revealed hypomagnesemia, hypocalciuria, metabolic alkalosis, hyperrenin, and hyperaldosteronemia. Genetic testing revealed compound heterozygous mutations in the SLC12A3 gene (c.506-1G > A, c.1456G > A) encoding the thiazide-sensitive sodium-chloride cotransporter, which presented a definitive diagnosis of Gitelman syndrome (GS). Moreover, gene analysis revealed his mother diagnosed with subclinical hypothyroidism due to Hashimoto’s thyroiditis carried the c.506-1G > A heterozygous mutation in the SLC12A3 gene and his father carried the c.1456G > A heterozygous mutation in the SLC12A3 gene. His younger sister who had hypokalemia and hypomagnesemia carried the same compound heterozygous mutations as the proband and was diagnosed with GS as well, but with a much milder clinical presentation and better treatment outcome. This case suggested the potential relationship between GS and GD, clinicians should strengthen the differential diagnosis to avoid missed diagnosis.

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Section: Discussionmentioning

confidence: 99%

Gitelman syndrome with Graves’ disease leading to rhabdomyolysis: a case report and literature review

et al. 2023

BMC Nephrol

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“…Besides the Gitelman syndrome, many other clinical features like hyperthyroidism and primary hyperaldosteronism may also occur with hypokalemia and episodic muscular weakness (Zhang et al, 2016). Hyperthyroidism leads to muscular weakness which is associated with electrolyte disturbances and shows signs of throtoxicosis, whereas the muscular weakness of hyperthyroidism would also lead to hypertension, hypokalemia and increased aldosterone levels (Oguz et al, 2014).…”

Section: Introductionmentioning

confidence: 99%

Research Article A novel homozygous stop gain mutation in SLC12A3 gene cause Gitelman syndrome in Saudi consanguineous family

Naseer¹,

Muthaffar²,

Rasool³

et al. 2018

Genet. Mol. Res.

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Gitelman Syndrome: A Rare Cause of Seizure Disorder and a Systematic Review

Shahzad

Mukhtar

Ahmed

et al. 2019

Case Reports in Medicine

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Gitelman syndrome is one of the few inherited causes of metabolic alkalosis due to salt losing tubulopathy. It is caused by tubular defects at the level of distal convoluted tubules, mimicking a thiazide-like tumor. It usually presents in late childhood or in teenage as nonspecific weakness, fatigability, polyuria, and polydipsia but very rarely with seizures. It is classically associated with hypokalemia, hypomagnesemia, hypocalciuria, hyperreninemia, and hyperaldosteronism. However, less frequently, it can present with normal magnesium levels. It is even rarer to find normomagnesemic patients of GS who develop seizures as the main complication since hypomagnesemia is considered the principal etiology of abnormal foci of seizure-related brain activity in GS cases. Interestingly, patients with GS are oftentimes diagnosed during pregnancy when the classic electrolyte pattern consistent with GS is noticed. Our case presents GS with normal serum magnesium in a patient, with seizures being the main clinical presentation. We also did a comprehensive literature review of 122 reported cases to show the prevalence of normal magnesium in GS cases and an overview of clinical and biochemical variability in GS. We suggest that further studies and in-depth analysis are required to understand the pathophysiology of seizures in GS patients with both normal and low magnesium levels.

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A novel homozygous mutation in the solute carrier family 12 member 3 gene in a Chinese family with Gitelman syndrome

Cited by 4 publications

References 22 publications

Gitelman syndrome with Graves’ disease leading to rhabdomyolysis: a case report and literature review

Gitelman syndrome with Graves’ disease leading to rhabdomyolysis: a case report and literature review

Research Article A novel homozygous stop gain mutation in SLC12A3 gene cause Gitelman syndrome in Saudi consanguineous family

Gitelman Syndrome: A Rare Cause of Seizure Disorder and a Systematic Review

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