Papillorenal syndrome laboratory findings: Difference between revisions
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==Overview== | ==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]]. | |||
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==Laboratory Findings== | ==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=== | ===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. | *[[Hypodysplasia]] (RHD): Characterized histologically by reduced number of [[nephrons]], smaller [[kidney]] size, or disorganized [[tissue]]. | ||
*Oligomeganephronia: Fewer than normal glomeruli, with a notable size increase. | *[[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. | |||
==References== | ==References== | ||
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[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Syndromes]] | [[Category:Syndromes]] | ||
[[Category: | [[Category:Needs content]] | ||
[[Category:Disease]] | |||
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Latest revision as of 22:29, 28 September 2020
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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.