papillorenal syndrome

Approximately half of patients with papillorenal syndrome do not have defects in the Pax2.

Treatment plans seem to be limited, as there is a large focus on the prevention of papillorenal syndrome and its implications.

Shows disorganization of kidneys, and occurs in about 10% of patients with papillorenal syndrome.

These models along with the continued investigation of the syndrome may help to shed light on the mechanisms involved with papillorenal syndrome.

This condition may be associated with brain and kidney disorders including papillorenal syndrome, a PAX2 gene mutation.

Papillorenal syndrome is an autosomal dominant disorder that results from a mutation of one copy of the Pax2 gene, located on chromosome 10q24.3-q25.1.

For future work, papillorenal syndrome can be better understood by examining other affected human families as well as animal models that have the mutant form of Pax2.

Additionally, preimplantation genetic diagnosis (PGD) should be considered for families where papillorenal syndrome is known to be an issue.

Papillorenal syndrome, also called Renal-coloboma syndrome or isolated renal hypoplasia, is an autosomal dominant genetic disorder marked by underdevelopment (hypoplasia) of the kidney and colobomas of the optic nerve.

Homozygous negative Pax2 mutation is lethal, but heterozygote mutants showed many symptoms of papillorenal syndrome, including optic nerve dysplasia with abnormal vessels emerging from the periphery of the optic cup and small dysplasic kidneys.