Papillorenal syndrome other diagnostic studies
Overview
The exact criteria for Renal-coloboma syndrome have not been established so far however by seeing the patients clinically the findings of optic nerve coloboma and hypo dysplasia of kidneys are the characteristic abnormalities seen in patients with Renal coloboma syndrome. and out of that nearly half of the patients have a mutation in PAX2 Gene. It was first observed and concluded by Bower and Schimmenti.
Diagnostic Studies
To make the exact diagnosis of this syndrome is always a challenging task for health care professionals. The exact criteria for Renal coloboma syndrome[1] has not been established so far, however by seeing the patients clinically ad looking for the 2 most important characteristic findings - optic nerve coloboma and Kidney hypodysplasia can help make the diagnosis of Renal-coloboma syndrome. And out of that, nearly half of the patients have a mutation in PAX 2 Gene. It was first observed and concluded by Bower and Schimmenti.
The combination of finings in History, physical examination, and lab findings along with genetic testing all help in making the diagnosis of Renal-coloboma syndrome.
The recommendation for physical examination is that the patients with Renal-coloboma syndrome should be evaluated with by an ophthalmologist with the eye examination mainly for retinal examination and optic nerve malformations. The patients with findings of optic nerve dysplasia should further undergo evaluation for blood pressure, serum electrolytes, Renal function test, and/or urinalysis for proteinuria and renal ultrasound.
Testing Resources
Genetic testing registry GTR- This body usually provides information about the genetic testing that is required to be done for these patients. The patients with any questions related to the test should contact the health care providers and doctors reserved to this testing.
'Orphanet' provides the information about the international laboratories laboratories offering it the diagnostic testing at various regions.
References
- ↑ Schimmenti LA (December 2011). "Renal coloboma syndrome". Eur. J. Hum. Genet. 19 (12): 1207–12. doi:10.1038/ejhg.2011.102. PMC 3230355. PMID 21654726.