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Background <p>Gitelman syndrome (GS) is a rare autosomal recessive renal tubular disorder characterized by hypokalemia, metabolic alkalosis, and hypomagnesemia.While gastrointestinal polyps are common in children, their co-occurrence with GS is exceedingly rare. This report presents the first documented pediatric case in China of GS associated with ileocecal polyps.</p> Case presentation <p>A 5-year-old male presented with paroxysmal periumbilical abdominal pain and persistent hypokalemia (2.72 mmol/L). Imaging revealed a 4&#xa0;cm × 3&#xa0;cm × 3&#xa0;cm ileocecal mass, initially suspected as lymphoma. Colonoscopy identified a pedunculated polyp, excised via electrocoagulation. Histopathology confirmed a juvenile polyp. Genetic testing identified compound heterozygous mutations in the SLC12A3 gene (paternally inherited c.923dup and maternally inherited c.2521 + 253&#xa0;C &gt; T),confirming GS. Postoperative potassium supplementation stabilized serum potassium (3.27 mmol/L at discharge).</p> Conclusion <p>This report underscores the importance of genetic testing in cases with complex presentations, such as the rare association described here, and raises awareness of potential gastrointestinal comorbidities in GS. Further research is needed to explore shared pathophysiological mechanisms between renal tubular disorders and intestinal polyps.</p>

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First case report in China of Gitelman syndrome associated with ileocecal polyps in a child: a case report

  • 期刊论文

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  • 发表日期：

    2025年8月7日

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  • Yue Wang,
  • Haiyan Lei,
  • Haibin Wang,
  • Jun Yang,
  • Hongxi Guo

摘要

Background

Gitelman syndrome (GS) is a rare autosomal recessive renal tubular disorder characterized by hypokalemia, metabolic alkalosis, and hypomagnesemia.While gastrointestinal polyps are common in children, their co-occurrence with GS is exceedingly rare. This report presents the first documented pediatric case in China of GS associated with ileocecal polyps.

Case presentation

A 5-year-old male presented with paroxysmal periumbilical abdominal pain and persistent hypokalemia (2.72 mmol/L). Imaging revealed a 4 cm × 3 cm × 3 cm ileocecal mass, initially suspected as lymphoma. Colonoscopy identified a pedunculated polyp, excised via electrocoagulation. Histopathology confirmed a juvenile polyp. Genetic testing identified compound heterozygous mutations in the SLC12A3 gene (paternally inherited c.923dup and maternally inherited c.2521 + 253 C > T),confirming GS. Postoperative potassium supplementation stabilized serum potassium (3.27 mmol/L at discharge).

Conclusion

This report underscores the importance of genetic testing in cases with complex presentations, such as the rare association described here, and raises awareness of potential gastrointestinal comorbidities in GS. Further research is needed to explore shared pathophysiological mechanisms between renal tubular disorders and intestinal polyps.