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

• Hypodysplasia (RHD): Characterized histologically by reduced number of nephrons, smaller kidney size, or disorganized tissue.
• Multicystic Dysplastic Kidney: Characterized histologically, displaying cysts or dysplasia. Shows disorganization of kidneys, and occurs in about 10% of patients with papillorenal syndrome.
• Oligomeganephronia: Fewer than normal glomeruli, with a notable size increase.