Papillorenal syndrome medical therapy: Difference between revisions
| Line 27: | Line 27: | ||
7) Team approach that usually includes ophthalmologist, nephrologist, audiologist along with clinical genetic specialist. | 7) Team approach that usually includes ophthalmologist, nephrologist, audiologist along with clinical genetic specialist. | ||
<u>Prevention of complications</u> | <u>Prevention of complications</u> | ||
| Line 34: | Line 35: | ||
Most importantly focuses on the prevention of | Most importantly focuses on the prevention of | ||
*Development of ESRD | |||
*Vision Loss resulting from the detachment of retinal epithelium. | |||
<u>Treatment for ongoing symptoms and complications</u> | <u>Treatment for ongoing symptoms and complications</u> | ||
| Line 47: | Line 49: | ||
''E'' | ''E'' | ||
''Ongoing treatment of hypertension and/or vesicoureteral reflux (if present) may preserve renal function. | ''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). | 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. | Low vision experts can assist with the adaptive functioning of those with significant vision loss. | ||
Prevention of Secondary Complications | 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. | Prevention of retinal detachment in those with congenital optic nerve abnormalities includes close follow up with an ophthalmologist and use of protective eyewear. | ||
''Surveillance | ''Surveillance'' | ||
No disease-specific guidelines have been developed. The following ongoing evaluations are recommended in all individuals with PAX2-related disorder. | 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 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. | 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 | Audiometric evaluation with periodic follow-up | ||
Agents/Circumstances to Avoid | Agents/Circumstances to Avoid | ||
Avoid the following: | Avoid the following: | ||
''Use of medications known to affect renal function (requires consultation with a specialist in nephrology) | ''Use of medications known to affect renal function (requires consultation with a specialist in nephrology)'' | ||
Contact sports | Contact sports | ||
Evaluation of Relatives at Risk | 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. | 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.'' | ''See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes.'' | ||
''Pregnancy Management | ''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. | 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 | ''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. | 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. | ||
==References== | ==References== | ||
Revision as of 23:10, 28 September 2020
|
Papillorenal syndrome Microchapters |
|
Diagnosis |
|---|
|
Treatment |
|
Case Studies |
|
Papillorenal syndrome medical therapy On the Web |
|
American Roentgen Ray Society Images of Papillorenal syndrome medical therapy |
|
Risk calculators and risk factors for Papillorenal syndrome medical therapy |
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
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.