BSND

Bartter syndrome, infantile, with sensorineural deafness
Identifiers
Symbol	?
NCBI gene	55871
HGNC	1136
OMIM	606412
RefSeq	NM_057176
UniProt	Q8WZ55
Search for Structures Swiss-model Domains InterPro

BSND is a gene that encodes the protein barttin, which is essential for the proper functioning of the kidney and inner ear. Mutations in the BSND gene are associated with a rare genetic disorder known as Bartter syndrome type IV, which is characterized by nephrocalcinosis, hypokalemic metabolic alkalosis, and sensorineural deafness.

Function

The BSND gene provides instructions for making the barttin protein, which is a critical component of the chloride channels in the kidney and inner ear. These channels are responsible for the transport of chloride ions, which is essential for maintaining the body's electrolyte balance and proper hearing function.

Clinical Significance

Mutations in the BSND gene lead to Bartter syndrome type IV, also known as Bartter syndrome with sensorineural deafness. This condition is inherited in an autosomal recessive pattern, meaning that both copies of the gene in each cell have mutations. Individuals with this condition typically present with symptoms in infancy, including failure to thrive, polyuria, and sensorineural hearing loss.

Diagnosis and Management

Diagnosis of Bartter syndrome type IV involves genetic testing to identify mutations in the BSND gene. Management of the condition focuses on correcting electrolyte imbalances, using supplements such as potassium and magnesium, and addressing hearing loss with appropriate interventions such as hearing aids or cochlear implants.

Research Directions

Ongoing research is focused on understanding the precise mechanisms by which BSND mutations lead to the symptoms of Bartter syndrome type IV and exploring potential therapeutic approaches to correct or mitigate these effects.

Also see

• Bartter syndrome
• Sensorineural hearing loss
• Electrolyte imbalance
• Genetic testing