Case Report
Copyright ©The Author(s) 2022. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Mar 26, 2022; 10(9): 2844-2850
Published online Mar 26, 2022. doi: 10.12998/wjcc.v10.i9.2844
Early diagnosis of Gitelman syndrome in a young child: A case report
Chun-Yen Wu, Ming-Hsein Tsai, Chia-Chun Chen, Chuan-Hong Kao
Chun-Yen Wu, Chia-Chun Chen, Chuan-Hong Kao, Department of Pediatrics, Far Eastern Memorial Hospital, New Taipei City 220, Taiwan
Ming-Hsein Tsai, Department of Internal Medicine, Shin-Kong Wu Ho-Su Memorial Hospital, Taipei 111, Taiwan
Author contributions: Wu CY and Tsai MH analyzed the data and wrote the manuscript; Kao CH and Chen CC designed the research study; all authors have read and approved the final manuscript.
Informed consent statement: All study participants, or their legal guardian, provided informed written consent for publication of this report and any accompanying images.
Conflict-of-interest statement: The authors declare that they have no conflict of interest.
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Corresponding author: Chuan-Hong Kao, MD, MS, Attending Doctor, Department of Pediatrics, Far Eastern Memorial Hospital, No. 21 Sec. 2, Nanya S. Road, Banciao District, New Taipei City 220, Taiwan. kche4324@gmail.com
Received: August 23, 2021
Peer-review started: August 23, 2021
First decision: November 17, 2021
Revised: December 11, 2021
Accepted: February 19, 2022
Article in press: February 19, 2022
Published online: March 26, 2022
Processing time: 211 Days and 2.8 Hours
Abstract
BACKGROUND

Gitelman syndrome (GS) is an autosomal recessive renal tubular disorder characterized by renal wasting hypokalemia, metabolic alkalosis, hypomagnesemia, and hypocalciuria. It is usually caused by mutations in the gene SLC12A3, which encodes the thiazide-sensitive Na-Cl cotransporter. GS is not usually diagnosed until late childhood or adulthood.

CASE SUMMARY

Here, we report the case of a one-year-old girl who was brought to the emergency department due to persistent vomiting for two days. On admission to our hospital, generalized weakness was observed, and laboratory investigations revealed severe hypokalemia (1.9 mmol/L). However, persistent hypokalemia was observed during outpatient follow-up. Suspicion of the GS phenotype was assessed via the patient’s clinical presentation, family history, and biochemical analysis of blood and urine. Further genetic analysis was performed for her and her family by exon-wide sequencing analysis of the gene SLC12A3. The genetic diagnosis of GS was established in the Taiwanese family with three affected individuals, two of whom were children (7 years/17 years) without obvious symptoms, with the youngest being only one year old (patient in our case).

CONCLUSION

We successfully demonstrated the early diagnosis of GS using family genetic analysis. Any instances of hypokalemia should not be neglected, as early detection of GS with suitable treatment can prevent patients from potentially life-threatening complications.

Keywords: Children; Hypokalemia; Hypomagnesemia; SLC12A3; Gitelman syndrome; Case report

Core Tip: In this study, the genetic diagnosis of Gitelman syndrome (GS) was established in a Taiwanese family with three affected individuals, two of them being young children without obvious symptoms, with the youngest child being only one year old. We further describe the case of the one-year-old girl brought to the emergency department due to persistent vomiting for two days. We believe that our report makes a significant contribution to the literature because we successfully demonstrated the early diagnosis of a case of GS using family genetic analysis. The early diagnosis and treatment of this condition can help prevent potentially life-threatening conditions.