Papillorenal syndrome laboratory findings

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

The diagnosis of Renal coloboma syndrome is mainly limited to renal and optical anomalies along with the presence of PAX2 gene mutation. So there is not many roles studied in terms of lab findings except doing the genetic workup for PAX2 Gene mutation. Some rare and variant cases of PAX2 gene may also have the Renal histological findings similar to FSGS and that can be further studied and explored in lab conditions.

Laboratory Findings

The diagnosis of Renal-coloboma syndrome is mainly limited to renal and optical anomalies along with the presence of PAX2 gene mutation. So there is not many roles studied in terms of lab findings except doing the genetic workup for PAX2 Gene mutation. Some rare and variant cases of PAX2 gene may also have the Renal histological findings similar to FSGS and that can be further studied and explored in lab conditions.

Histological Renal Findings

References

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