The least severe form of papillorenal disease shown in the eye is the exiting of blood vessels from the periphery that do not disturb the shape of the eye. Other eye malformations include scleral staphyloma, which is the bulging of the eye wall. There can also be retinal thinning and myopia. Additionally, there can be an optic nerve cyst, which is dilation of the optic nerve posterior to the globe; which most likely results from incomplete regression of the primordial optic stalk and the filling of this area with fluid. Retinal coloboma is also common, which is characterized by the absence of retinal tissue in the nasal ventral portion of the retina. However, this is an extremely rare finding. Molecular genetic testing
Sequence analysis shows that Pax2 is the only known gene associated with the disease. Mutations in Pax2 have been identified in half of renal coloboma syndrome victims. Treatment
Management of the disease should be focused on preventing end-stage kidney disease (ESKD) and/or vision loss. The treatment of hypertension may also preserve renal function. Renal replacement therapy is recommended, and vision experts may provide assistance to adapt to continued vision loss. Kidney transplant is also an option. Treatment plans seem to be limited, as there is a large focus on the prevention of papillorenal syndrome and its implications. People with congenital optic nerve abnormalities should seek ophthalmologists regularly and use protective lenses. If abnormalities are present, a follow up with a nephrologist should be achieved to monitor renal function and blood pressure.
It is given slowly from one to three hours under the supervision of a physician. Mechanism
Sacituzumab govitecan is a conjugate of the humanized anti-Trop-2 monoclonal antibody linked with SN-38, the active metabolite of irinotecan. Each antibody having on average 7.6 molecules of SN-38 attached. SN-38 is too toxic to administer directly to patients, but linkage to an antibody allows the drug to specifically target cells containing Trop-2.Sacituzumab govitecan is a Trop-2-directed antibody and topoisomerase inhibitor drug conjugate, meaning that the drug targets the Trop-2 receptor that helps the cancer grow, divide and spread, and is linked to topoisomerase inhibitor, which is a chemical compound that is toxic to cancer cells. Approximately two of every ten breast cancer diagnoses worldwide are triple-negative. Triple-negative breast cancer is a type of breast cancer that tests negative for estrogen receptors, progesterone receptors and human epidermal growth factor receptor 2 (HER2) protein. Therefore, triple-negative breast cancer does not respond to hormonal therapy medicines or medicines that target HER2. Development
Immunomedics announced in 2013, that it had received fast track designation from the US Food and Drug Administration (FDA) for the compound as a potential treatment for non-small cell lung cancer, small cell lung cancer, and metastatic triple-negative breast cancer. Orphan drug status was granted for small cell lung cancer and pancreatic cancer.