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

The medical management 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 early evaluation and workup should be done in patients to cover up all the possible aspects of clinical manifestations. The prevention of secondary complications is usually important in patients with Renal-coloboma syndrome. The ongoing treatment for hypertension or any other medical illness should be provided to the patients that will further help in the prevention of the development of End-stage renal disease. Evaluation of family members is also important and must be done to detect any asymptomatic individual in the family so he can be managed at the earliest possible time and severe complications in those patients can be avoided.

Medical Management

The medical management 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.

• Managing the patients for 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 - 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 usually performed for the patients having some form of congenital abnormalities.

• If patient is having congenital optic disc abnormalities the secondary prevention is done
• 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 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
• To identify asymptomatic family members so a to identify any family member that could be benefited from the therapy.