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Novel SLC12A3 mutation in Gitelman syndrome.

Rita Veríssimo¹, Luís Leite de Sousa², Tiago J Carvalho²

¹Nephrology Department, Centro Hospitalar de Lisboa Ocidental EPE, Carnaxide, Portugal rita.pverissimo@gmail.com.

BMJ Case Reports

|January 19, 2021

Summary

This summary is machine-generated.

Gitelman syndrome, a genetic kidney disorder, often goes undiagnosed until adulthood. This case highlights a new mutation in the SLC12A3 gene, expanding the known genetic causes of this condition.

Keywords:

fluid electrolyte and acid-base disturbances genetics renal medicine

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Area of Science:

Nephrology
Medical Genetics

Background:

Gitelman syndrome (GS) is an autosomal recessive renal tubulopathy.
It is characterized by hypokalemia, metabolic alkalosis, hypomagnesemia, and hypocalciuria.
GS is caused by mutations in the SLC12A3 gene, encoding the thiazide-sensitive Na-Cl cotransporter.

Observation:

A 49-year-old man presented with persistent hypokalemia and hypomagnesemia.
Investigations revealed characteristic electrolyte and acid-base abnormalities of GS, including increased urinary sodium and chloride excretion and reduced urinary calcium excretion.
Renal function and imaging were normal.

Findings:

Genetic testing identified a novel mutation, c.1072del (p.(Ala358Profs*12)), in the SLC12A3 gene.
This finding confirms the diagnosis of Gitelman syndrome.
The novel mutation expands the spectrum of known pathogenic variants in SLC12A3.

Implications:

This case contributes to understanding the genetic heterogeneity of Gitelman syndrome.
Early diagnosis and genetic confirmation are crucial for managing GS.
Further research into SLC12A3 mutations can improve diagnostic yield and genetic counseling.