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]
Overview
Management.
Treatment of manifestations: Ongoing treatment of hypertension and/or vesicoureteral reflux; renal replacement therapy (dialysis and/or renal transplantation) for end-stage renal disease; low vision aids for significant visual impairment.
Prevention of secondary complications: Use of protective eyewear to prevent retinal detachment.
Surveillance: Follow up by a nephrologist to monitor renal function and blood pressure and an ophthalmologist to monitor vision, with periodic audiometric evaluations.
Evaluation of relatives at risk: Offer molecular genetic testing if a PAX2 pathogenic variant has been identified in an affected family member. If no PAX2 pathogenic variant has been found, perform dilated ophthalmologic examination, renal ultrasound examination, tests of renal function, uric acid levels, and urinalysis; measure blood pressure.
Medical Management
The medical management[1] for the patients suffering from Renal-coloboma syndrome consists of a combination of preventive as well as a curative component for the complications or the clinical manifestations happening in patients clinically. The most important component is the clinical evaluation of patient symptoms and signs. The most common evaluation involves a careful assessment of Renal and optical manifestations. The following test and workup should be done in patients if not already done to cover up all the possible aspects of clinical manifestations.
Early Evaluation
1) Evaluation of Renal structure by renal ultrasound
2) Urinalyses to look for the presence of blood and proteins
3) Evaluation of the presence of vesicoureteral reflux.
4) Measurement of renal function by renal by checking serum electrolyte concentration, creatinine, and BUN concentration levels.
4) Voiding Cystourethrogram
5) Eye and ear examination- Audiologic testing to look for the presence of hearing loss.
6) Genetic counseling
7) Team approach that usually includes ophthalmologist, nephrologist, audiologist along with clinical genetic specialist.
Prevention of complications
The prevention of complications is the most important component involved in patient care.
Most importantly focuses on the prevention of
- Development of ESRD
- Vision Loss resulting from the detachment of retinal epithelium.
Treatment for ongoing symptoms and complications
The treatment approach for patients with Renal-coloboma syndrome mainly involves the team of Nephrologists, Ophthalmologists, Audiologists. The ongoing treatment helps in the better control of symptoms and giving patients a better quality of life.
- The renal treatment part mainly involves managing the patients of hypertension and the vesicoureteral reflux that might be affecting the long-term renal outcome and the renal function. This helps in preventing the development of end-stage renal disease in patients.
- ESRD if develops patients are managed with the help of dialysis, and/or renal transplantation.
- Vision experts or ophthalmologists are helpful in correcting the vision and help in the occurrence of significant vision loss.
Prevention
Prevention of secondary complications
Prevention of secondary complications is mainly reserved for the patients having some form of congenital abnormalities that can get worse in the future. Like if a patient is having congenital optic disc abnormalities the secondary prevention is done with the help of close follow-up with the ophthalmologist and protective eyewear.
Avoid
Avoid the use of medications and substances that can negatively impact one's kidney function.
- A nephrologist should always be consulted before starting any medication to avoid any impairment in kidney function.
- Patients are also instructed to avoid contact sports.
Evaluation of Relatives at Risk
It is the most important component in patients with renal coloboma syndrome. It is always acceptable to evaluate and clarify the genetic status of asymptomatic relatives of patients with Renal-coloboma syndrome. It is usually done with the help of genetic testing of the PAX2 pathogenic variant in order to identify asymptomatic family members so a to identify any family member that could be benefited from the therapy.