From the Guidelines
Gitelman syndrome has a familial inheritance pattern, specifically an autosomal recessive genetic disorder, as indicated by the involvement of the SLC12A3 gene, as listed in the genetic testing recommendations for Bartter syndrome and related disorders 1. The disorder is caused by mutations in the SLC12A3 gene, which encodes the thiazide-sensitive sodium-chloride cotransporter in the distal convoluted tubule of the kidney. Some key points to consider include:
- Parents who are carriers (having one mutated copy) typically do not show symptoms but have a 25% chance of having a child with Gitelman syndrome if both parents are carriers.
- Siblings of affected individuals have a 25% chance of being affected and a 50% chance of being asymptomatic carriers.
- Genetic counseling is recommended for families with a history of Gitelman syndrome to understand inheritance risks. The autosomal recessive inheritance pattern explains why the condition may appear to skip generations and why it can affect both males and females equally, as supported by the genetic information provided in the study 1.
From the Research
Gitelman Syndrome Inheritance
- Gitelman syndrome (GS) is an autosomal recessive disorder, meaning that it is inherited in an autosomal recessive pattern 2, 3, 4.
- The syndrome is caused by mutations in the SLC12A3 gene, which encodes the thiazide-sensitive sodium-chloride cotransporter (NCC) 2, 3, 5, 6, 4.
- GS is characterized by hypokalemic metabolic alkalosis, hypomagnesemia, and hypocalciuria, and is one of the most common inherited renal tubulopathies 2, 3.
Familial Inheritance
- The majority of GS patients have a family history of the disorder, and genetic counseling is recommended 3, 4.
- Compound heterozygous mutations in the SLC12A3 gene have been identified in some GS patients, resulting in a variable disease phenotype 5, 4.
- Family members with at least one wild-type copy of the SLC12A3 gene typically have normal biochemistry 5.