Finnish Type Sialuria, also known as Salla disease, is a rare genetic disorder that affects the body's ability to regulate the balance of electrolytes in the kidneys. It is an autosomal recessive disorder, meaning that an individual must inherit two copies of the mutated gene, one from each parent, in order to develop the condition.
This condition is characterized by excessive loss of salt (sodium) through the urine, leading to low levels of sodium in the body (hyponatremia). It is caused by mutations in the SLC9A1 gene, which encodes a protein involved in the reabsorption of sodium in the kidneys. The impaired function of this protein results in increased excretion of sodium, causing electrolyte imbalance.
The symptoms of Finnish Type Sialuria usually appear in infancy or early childhood. They may include excessive thirst and urination, poor feeding and growth, dehydration, fatigue, muscle weakness, and low blood pressure. Individuals with this condition may also experience developmental delays and intellectual disabilities.
Treatment for Finnish Type Sialuria mainly focuses on managing the symptoms and maintaining electrolyte balance. This may involve fluid and salt supplementation, as well as medications to regulate sodium levels. Regular monitoring of electrolyte levels and close medical supervision are essential to prevent complications associated with hyponatremia.
Finnish Type Sialuria is an extremely rare disorder, with only a few cases reported in the medical literature. Research on this condition is ongoing, aiming to further understand its underlying mechanisms and explore potential treatments.
