Papillorenal syndrome

Papillorenal syndrome, also known as Renal-Coloboma syndrome, is a rare genetic disorder characterized by ocular dysgenesis and renal hypodysplasia. The syndrome is caused by mutations in the PAX2 gene, which is involved in the development of the eyes and kidneys.

Symptoms and Signs

The primary symptoms of Papillorenal syndrome include coloboma of the optic nerve, which can lead to vision loss, and renal hypodysplasia, which can lead to chronic kidney disease. Other symptoms may include high blood pressure, proteinuria, and hearing loss. The severity of symptoms can vary widely among individuals with the syndrome.

Genetics

Papillorenal syndrome is caused by mutations in the PAX2 gene. This gene provides instructions for making a protein that is involved in the formation of the eyes and kidneys during embryonic development. Mutations in the PAX2 gene disrupt the normal development of these organs, leading to the characteristic features of Papillorenal syndrome.

Diagnosis

The diagnosis of Papillorenal syndrome is based on clinical findings, including the presence of coloboma and renal hypodysplasia. Genetic testing can confirm the diagnosis by identifying a mutation in the PAX2 gene.

Treatment

There is currently no cure for Papillorenal syndrome. Treatment is symptomatic and supportive, and may include management of chronic kidney disease and vision loss.

Prognosis

The prognosis for individuals with Papillorenal syndrome varies depending on the severity of symptoms. Some individuals may have mild symptoms and live a normal lifespan, while others may develop end-stage renal disease and require dialysis or a kidney transplant.

See Also

• PAX2
• Coloboma
• Renal hypodysplasia
• Chronic kidney disease

NIH genetic and rare disease info

• NIH info on Papillorenal syndrome

Papillorenal syndrome is a rare disease.

Papillorenal syndrome Resources
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