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Related Experiment Video

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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

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Gitelman syndrome with mental retardation: a case report.

Gonca Aylin Tuhta¹, Alparslan Tuhta, Murat Erdogan

¹Department of Internal Medicine, General Hospital of Siirt, Siirt, Turkey. atuhta@yahoo.com

Journal of Nephrology

|July 27, 2010

Summary

Gitelman syndrome, a genetic disorder affecting the Na-Cl cotransporter, caused a young patient

Area of Science:

Nephrology
Medical Genetics

Background:

Gitelman syndrome (GS) is an inherited renal tubular disorder.
It results from mutations in the gene for the distal convoluted tubule sodium-chloride cotransporter (NCCT).
GS is clinically defined by hypokalemia, metabolic alkalosis, hypomagnesemia, and hypocalciuria.

Observation:

An 18-year-old female presented with muscle weakness and recurrent transient tetanic episodes.
Initial laboratory findings included hypokalemia, hypomagnesemia, metabolic alkalosis, and hypocalciuria.
Intravenous magnesium and potassium corrected tetanic episodes but not plasma levels.

Findings:

Administration of indomethacin and triamterene led to normalization of plasma magnesium and potassium levels.
This treatment resolved the electrolyte imbalances characteristic of Gitelman syndrome.

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The patient was successfully discharged after achieving normalized levels.

Implications:

This case highlights a potential therapeutic approach for managing severe Gitelman syndrome.
Combined treatment with indomethacin and triamterene may be effective in normalizing electrolyte disturbances.
Further research could explore the long-term efficacy and safety of this therapeutic strategy.