Papillorenal syndrome medical therapy

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Shivam Singla, M.D.[2]

Medical Management

Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with PAX2-related disorder, the following are recommended if they have not already been completed:

Evaluation of renal structure by renal ultrasound examination Measurement of renal function by serum electrolyte concentrations, BUN, and creatinine Urinalysis to evaluate for the presence of blood and protein Evaluation for vesicoureteral reflux, by voiding cystourethrogram (VCUG) Dilated eye examination Audiologic assessment (See Deafness and Hereditary Hearing Loss Overview for details of audiological assessment.) Consultation with a clinical geneticist and/or genetic counselor Treatment of Manifestations A team approach that includes specialists in ophthalmology, nephrology, audiology, and clinical genetics is recommended.

Management is focused on preventing complications of end-stage renal disease (ESRD) and/or vision loss resulting from retinal detachment.

Ongoing treatment of hypertension and/or vesicoureteral reflux (if present) may preserve renal function. ESRD is treated with renal replacement therapy (i.e., dialysis and/or renal transplantation). Low vision experts can assist with the adaptive functioning of those with significant vision loss. Prevention of Secondary Complications Prevention of retinal detachment in those with congenital optic nerve abnormalities includes close follow up with an ophthalmologist and use of protective eyewear.

Surveillance No disease-specific guidelines have been developed. The following ongoing evaluations are recommended in all individuals with PAX2-related disorder.

Follow up by a nephrologist to monitor renal function and blood pressure Follow up by an ophthalmologist to monitor vision. Any change in vision could indicate a retinal detachment and should be treated as a medical emergency. Audiometric evaluation with periodic follow-up Agents/Circumstances to Avoid Avoid the following:

Use of medications known to affect renal function (requires consultation with a specialist in nephrology) Contact sports Evaluation of Relatives at Risk It is appropriate to clarify the genetic status of apparently asymptomatic at-risk relatives of an affected individual by molecular genetic testing of the PAX2 pathogenic variant in the family in order to identify as early as possible those who would benefit from prompt initiation of treatment and preventive measures.

See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes.

Pregnancy Management It is important that a female with PAX2-related disorder have a thorough renal evaluation prior to becoming pregnant. Individuals with clinical renal disease should consult with appropriate professionals including nephrologists and maternal-fetal medicine specialists to establish a plan for medical management during pregnancy.

Therapies Under Investigation Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.