Erikohustusi

Erikohustusi, also known as Erikohustusi syndrome, is a rare genetic disorder characterized by the absence of the right kidney and the presence of a single, enlarged left kidney. This condition is caused by a mutation in the PAX2 gene, which is responsible for the development of the kidneys and other organs. Erikohustusi syndrome is typically diagnosed in infancy or early childhood, and it is often associated with other congenital anomalies, such as heart defects and abnormalities of the urinary tract.

The exact prevalence of Erikohustusi syndrome is unknown, but it is estimated to affect fewer than 1 in 100,000 individuals. The condition is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is sufficient to cause the disorder. Individuals with Erikohustusi syndrome may experience a range of symptoms, including recurrent urinary tract infections, hypertension, and kidney failure. In some cases, surgical intervention may be necessary to correct the abnormalities of the urinary tract and prevent complications.

Erikohustusi syndrome is named after the Finnish physician Erik Ohustusi, who first described the condition in 1965. The syndrome is also known by other names, including unilateral renal agenesis with contralateral renal dysplasia and unilateral renal agenesis with contralateral renal dysplasia and other anomalies. Despite its rarity, Erikohustusi syndrome is an important area of research, as it provides insights into the genetic and developmental mechanisms underlying kidney formation.