Papillorenal syndrome

Papillorenal Syndrome

Diagram illustrating autosomal dominant inheritance.

Papillorenal syndrome, also known as renal-coloboma syndrome, is a rare genetic disorder characterized by abnormalities of the kidneys and the eyes. It is an autosomal dominant condition, meaning that a mutation in just one of the two copies of the responsible gene is sufficient to cause the disorder.

Genetics

Papillorenal syndrome is primarily caused by mutations in the PAX2 gene, which plays a crucial role in the development of the kidneys and eyes during embryogenesis. The PAX2 gene is located on chromosome 10q24.31. As an autosomal dominant disorder, an affected individual has a 50% chance of passing the mutation to each offspring.

Clinical Features

Ocular Abnormalities

Individuals with papillorenal syndrome often present with coloboma, a defect in the structure of the eye, which can affect the iris, retina, choroid, or optic nerve. This can lead to vision problems, including visual field defects and decreased visual acuity.

Renal Abnormalities

The renal manifestations of the syndrome include renal hypoplasia, where the kidneys are underdeveloped, and renal dysplasia, where the kidneys have an abnormal structure. These abnormalities can lead to chronic kidney disease and renal failure in severe cases.

Diagnosis

Diagnosis of papillorenal syndrome is based on clinical findings and can be confirmed by genetic testing for mutations in the PAX2 gene. Imaging studies such as ultrasound or MRI may be used to assess kidney structure, while ophthalmologic examination can identify ocular abnormalities.

Management

Management of papillorenal syndrome is symptomatic and supportive. Regular monitoring of kidney function and blood pressure is essential. Vision problems may require corrective lenses or surgery, depending on the severity of the coloboma.

Related Pages

• Coloboma
• Chronic kidney disease
• Autosomal dominant
• PAX2