Papillorenal syndrome medical therapy: Difference between revisions
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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. | 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. | * 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. | |||
ESRD if develops patients are managed with the help of dialysis, and/or renal transplantation. | * Vision experts or ophthalmologist are helpful in correcting the vision and help in the occurrence of significant vision loss. | ||
Revision as of 23:27, 28 September 2020
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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
Medical Management
The medical management for the patients suffering from Renal-coloboma syndrome consist of combination of preventive as well as curative component for the complications or the clinical manifestations happening in patients clinically. The most important component is clinical evaluation of patient symptoms and signs. Most common evaluation involves the careful assessment of Renal and optical manifestations. The following test and work up 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 for the presence of vesicoureteral reflux.
4) Measurement of renal function by renal by checking serum electrolyte concentration, creatinine and BUN conc. levels.
4) Voiding Cystourethrogram
5) Eye and ear examination- Audiologic testing to look for the presence of hearing loss.
6) Genetic counselling
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 the 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
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 ophthalmologist are helpful in correcting the vision and help in the occurrence of significant vision loss.
E
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.