Gitelman syndrome with diabetes and kidney stones: A case report

When unexplained hypokalemia is observed, the HCT test can help with the diagnosis of GS. When genetic testing reveals that a patient only carries only 1 SLC12A3 mutant allele, he requires further genetic evaluation. The patient's combination of kidney stones and cysts could not exclude the diagnosis of GS. Patients with GS and diabetes should be monitored for the development of diabetic ketoacidosis.

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Publication Details

Journal
Medicine
Published
2025-01-10
DOI
https://doi.org/10.1097/md.0000000000041207
Primary Topic
Ion Transport and Channel Regulation
Type
article
Field-Weighted Citation Impact
0.00
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article

Gitelman syndrome with diabetes and kidney stones: A case report

Xiongwei Ye, Meng Li, Hansheng Wu
Medicine
Ion Transport and Channel Regulation
article

Gitelman syndrome with diabetes and kidney stones: A case report

Xiongwei Ye, Meng Li, Hansheng Wu
article en

Abstract

When unexplained hypokalemia is observed, the HCT test can help with the diagnosis of GS. When genetic testing reveals that a patient only carries only 1 SLC12A3 mutant allele, he requires further genetic evaluation. The patient's combination of kidney stones and cysts could not exclude the diagnosis of GS. Patients with GS and diabetes should be monitored for the development of diabetic ketoacidosis.

MedicineVol. 104(2)
Zhejiang Chinese Medical University (CN), Zhejiang Hospital (CN)
Good health and well-being
Openalex Percentile: Top 100%
Ion Transport and Channel Regulation
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