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==== Historical Perspective ====
{{CMG}} {{AE}} {{Shivam Singla}}
==Overview==
 
[[Papillorenal syndrome]] for which another term is [[Renal-coloboma syndrome|Renal-Coloboma Syndrome (RCS]]). This condition usually consisting of [[renal]] [[anomalies]] plus [[optic nerve]] [[dysplasia]]. It is transmitted to future generations in an [[Autosomal dominant]] fashion. First clearly described by ''Weaver al in 1988''. In two brothers having [[ESRD]] with [[coloboma]] in the [[eyes]]. ''In 1995,'' the association of dominant mutations in [[PAX2 gene]] with [[RCS]] was made. It was studied in a two-generation family having [[renal]] [[dysplasia]], [[coloboma]] of the [[optic nerve]], and also the presence of [[vesicoureteral reflux]]. There are different opinions regarding the name of this condition between the observers. [[Papillorenal syndrome]] is a combination of [[renal]] and [[ocular anomalies]].  ''Eccles and Schimmenti, 1999; Negrisolo et al., 2011'' summarized Less common findings associated with expression of [[PAX2]] gene in numerous [[tissues]] with disease include [[hearing loss]], [[CNS anomalies]], [[joint problems]], [[ligament laxity]], [[soft skin]].
 
==Historical Perspective==
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Rieger (1977) reported a family in which the father showed bilateral optic disc anomalies and died of chronic nephritis; his son showed macular and retinal abnormalities but renal function was normal, whereas his daughter had normal eyes but suffered from renal failure. This is a variability not unexpected for an autosomal dominant syndrome


Karcher (1979) described a father and son with the 'morning glory' optic disc anomaly and renal disease. Weaver et al. (1988) reported 2 brothers with optic nerve colobomas associated with renal disease. There is uncertainty as to whether the 'morning glory' syndrome represents a colobomatous defect or an abnormality of regression of mesodermal structures of the embryonic optic disc (Kindler, 1970; Dempster et al., 1983). Under the designation papillorenal syndrome, Bron et al. (1989) described the same disorder. Parsa (1998) also concluded that this is a condition of dysplastic discs rather than coloboma and that papillorenal syndrome is a more appropriate designation.
[[Papillorenal syndrome]] for which another term used most commonly is [[Renal-coloboma syndrome]](RCS). This condition usually consisting of [[renal]] [[anomalies]] plus [[optic nerve]] [[dysplasia]]. It is transmitted to generations in an [[Autosomal dominant]] fashion<ref name="urlOMIM Entry - # 120330 - PAPILLORENAL SYNDROME; PAPRS">{{cite web |url=https://www.omim.org/entry/120330#clinicalFeatures |title=OMIM Entry - # 120330 - PAPILLORENAL SYNDROME; PAPRS |format= |work= |accessdate=}}</ref>.
 
'''''Weaver al in 1988''''' First clearly described papillorenal syndrome. In two brothers having [[ESRD]] with [[coloboma]] in the eyes.
 
'''In 1995''', the association of dominant mutations in [[PAX2 gene]] with [[RCS]] was made. It was studied in a two-generation family having [[renal dysplasia]], coloboma of the optic nerve, and also the presence of vesicoureteral reflux. There are different opinions regarding the name of this condition between the observers.
 
'''''Rieger in 1977''''' first reported a [[family]] in whom the [[male]] died because of [[chronic kidney disease]] and bilateral [[optic disc]] [[anomalies]]. His son on examination also showed [[eye]] changes involving [[macula]] and [[retina]] but on the [[kidney]] workup was normal but on the other hand, his [[daughter]] was having normal [[vision]] with no [[eye]] abnormalities suggested from [[renal failure]]. This is a [[variable expression]] not uncommon in [[Autosomal dominant syndrome]].
 
'''''Karcher in 1979''''' described a combined case of [[father]] and [[son]] from a [[family]] showing some [[eye]] anomalies and [[renal disease]] as well. The [[eye anomalies]] found in his son was named [[Morning glory disc anomaly|morning glory]] [[optic disc]] [[anomaly]]. There was a high uncertainty that whether [[Morning glory disc anomaly|morning glory]] includes colobomatous defects or its just the abnormal [[regression]] of [[mesodermal]] [[embryonic disc]] structures. ''Bron et al in 1989'' described the same disorder under the term [[Papillorenal syndrome]].  
 
'''''Schimmenti et al. & Sanyanusin et al. in 1995''''' four individuals ( One father and 3 sons) of having coloboma of the optic nerve, kidney anomalies, and also the presence of vesicoureteral reflux. The father on workup was found to be having normal with respect to the [[renal]] function. Although [[Eye]] examination showed the presence of [[myopia]] a [[coloboma]] in the [[eyes]] bilaterally. But all 3 sons were having [[kidneys]] and [[eyes]] affected to a variable extent.
 
'''''Parsa in 1998''''' concluded that this is most likely a condition of the [[dysplastic]] disc rather than being called [[coloboma]], so the [[Paillorenal syndrome|papillorenal syndrome]] was the most appropriate term designated.
 
'''''Amiel et al. in 2000'''''  described a family of 3 members with striking [[ocular]] [[phenotypic]] variability. One of them was having [[renal]] [[hypoplasia]] along with [[eye]] manifestation while the other 2 were having [[renal]] anomalies ( Unilateral cystic renal hypoplasia) with [[optic disc]] anomalies bilaterally.


Schimmenti et al. (1995) and Sanyanusin et al. (1995) described a father and 3 sons had optic nerve colobomas, vesicoureteral reflux, and renal anomalies. The 35-year-old father was more mildly affected than the sons. He had bilateral optic nerve colobomas but no renal problems recognized during childhood. An evaluation prompted by the renal problems in his sons demonstrated hypertension, mild proteinuria, and an elevated serum creatinine, but normal renal ultrasound. Ophthalmologic examination showed severe bilateral myopia, scleral staphyloma, and bilateral colobomas. Mild sensorineural hearing loss of unknown cause was also present. The oldest affected son, aged 15 years, had chronic renal failure and severe visual impairment. He first presented at 18 months for investigation of short stature. He already had renal insufficiency and showed a nonfunctioning right kidney and bilateral grade IV vesicoureteral reflux. The last ureteral reimplantation was performed at age 2. Hearing was normal. The second affected son, aged 10 years, had severe visual impairment, optic nerve colobomas, and mild renal dysfunction. He had grade II vesicoureteral reflux and small hypoplastic kidneys with poor corticomedullary differentiation. The third affected son, aged 6 years, had progressive renal failure for which he underwent renal transplantation at the age of 5 years.
'''According to ''PubMed search performed in November 2010'''''<nowiki/>'',''  The RCS is more common with 131 citations identified when the people searched for the term '[[Renal-coloboma syndrome]]' as compared to only 18 citations that have been identified when people used the search term as '[[Papillorenal syndrome]]'. The difference in results and the observation is mainly due to the differences in the explanation or description of [[phenotypic]] changes in the [[eye]]. For many [[ophthalmologists]], the eye findings are mainly due to the failure of the [[optic fissure]] to close during eye development and should be called [[coloboma]]. For others, eye manifestation should be regarded as [[Dysplasia]].


Sanyanusin et al. (1995) reported further on 2 brothers with 'typical renal-coloboma syndrome without associated vesicoureteric reflux' who were originally described by Weaver et al. (1988). The younger brother had presented with severe progressive renal failure leading to renal transplantation and had a bilateral visual field defect with optic nerve colobomas. The older brother presented with chronic mild renal failure, a visual field defect, and optic nerve colobomas. The 2 brothers were the only affected family members and both parents had normal ophthalmologic examinations.
'''''Eccles and Schimmenti, 1999; Negrisolo et al., 2011'''''<ref name="urlPAX2-Related Disorder - GeneReviews® - NCBI Bookshelf">{{cite web |url=https://www.ncbi.nlm.nih.gov/books/NBK1451/ |title=PAX2-Related Disorder - GeneReviews® - NCBI Bookshelf |format= |work= |accessdate=}}</ref> summarized Less common findings associated with expression of the [[PAX2 gene]] in numerous [[tissues]] with the [[disease]] include [[hearing loss]], [[CNS anomalies]], [[joint problems]], [[ligament laxity]], [[soft skin]].


Amiel et al. (2000) described a family in which 3 affected sibs showed striking ocular phenotypic variability. One sib had bilateral renal hypoplasia and 'morning glory' syndrome, whereas the other 2 presented with isolated unilateral cystic renal hypoplasia with no obvious ocular manifestation. Careful ophthalmologic examination of the latter 2 sibs showed an optic disc anomaly in both: bilateral papillary dysplasia in one and bilateral optic nerve coloboma in the other.
'''''Schimmenti in 2011-''' Summarized'' The [[ocular]] and [[renal]] anomalies result in a wide range of manifestations. They commonly result in decreased [[visual activity]] along with [[retinal detachment]], [[renal insufficiency]], [[proteinuria]], [[hypertension]], which can rapidly go on to develop [[end-stage renal disease]].


Schimmenti et al. (1999) described a severely affected girl and a mildly affected mother and daughter, all of whom had PAX2 homoguanine tract (7G) missense mutations. The mother and daughter had optic nerve colobomas and the daughter had vesicoureteral reflux. The severely affected girl developed renal failure and had bilateral colobomatous eye defects. Additionally, this girl developed hydrocephalus associated with platybasia and a Chiari-1 malformation. Thus, the phenotype associated with PAX2 mutations must be expanded to include brain malformations
'''''Negrisolo et al., 2011; latropoulos at al., 2012''.-''' This disorder has shown a wide variety of familial variability with a variable presentation in different family members. The patients under the category of [[CAKUT]] that are '[[congenital anomalies of the kidney and urinary tract]]' present with [[renal]] features without remarkable [[ocular]] changes, the same is the case with some patients having [[PAX2]] [[mutations]]<ref name="pmid31060108">{{cite journal |vauthors=Deng H, Zhang Y, Xiao H, Yao Y, Liu X, Su B, Zhang H, Xu K, Wang S, Wang F, Ding J |title=Diverse phenotypes in children with PAX2-related disorder |journal=Mol Genet Genomic Med |volume=7 |issue=6 |pages=e701 |date=June 2019 |pmid=31060108 |pmc=6565600 |doi=10.1002/mgg3.701 |url=}}</ref><ref name="pmid21654726">{{cite journal |vauthors=Schimmenti LA |title=Renal coloboma syndrome |journal=Eur. J. Hum. Genet. |volume=19 |issue=12 |pages=1207–12 |date=December 2011 |pmid=21654726 |pmc=3230355 |doi=10.1038/ejhg.2011.102 |url=}}</ref>. In these patients the [[ocular]] manifestations may be hard to detect without the use of advanced screening techniques or it can be normal.


==References==
==References==

Latest revision as of 14:41, 10 September 2020

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Shivam Singla, M.D.[2]

Overview

Papillorenal syndrome for which another term is Renal-Coloboma Syndrome (RCS). This condition usually consisting of renal anomalies plus optic nerve dysplasia. It is transmitted to future generations in an Autosomal dominant fashion. First clearly described by Weaver al in 1988. In two brothers having ESRD with coloboma in the eyes. In 1995, the association of dominant mutations in PAX2 gene with RCS was made. It was studied in a two-generation family having renal dysplasia, coloboma of the optic nerve, and also the presence of vesicoureteral reflux. There are different opinions regarding the name of this condition between the observers. Papillorenal syndrome is a combination of renal and ocular anomalies. Eccles and Schimmenti, 1999; Negrisolo et al., 2011 summarized Less common findings associated with expression of PAX2 gene in numerous tissues with disease include hearing loss, CNS anomalies, joint problems, ligament laxity, soft skin.

Historical Perspective

Papillorenal syndrome for which another term used most commonly is Renal-coloboma syndrome(RCS). This condition usually consisting of renal anomalies plus optic nerve dysplasia. It is transmitted to generations in an Autosomal dominant fashion[1].

Weaver al in 1988 First clearly described papillorenal syndrome. In two brothers having ESRD with coloboma in the eyes.

In 1995, the association of dominant mutations in PAX2 gene with RCS was made. It was studied in a two-generation family having renal dysplasia, coloboma of the optic nerve, and also the presence of vesicoureteral reflux. There are different opinions regarding the name of this condition between the observers.

Rieger in 1977 first reported a family in whom the male died because of chronic kidney disease and bilateral optic disc anomalies. His son on examination also showed eye changes involving macula and retina but on the kidney workup was normal but on the other hand, his daughter was having normal vision with no eye abnormalities suggested from renal failure. This is a variable expression not uncommon in Autosomal dominant syndrome.

Karcher in 1979 described a combined case of father and son from a family showing some eye anomalies and renal disease as well. The eye anomalies found in his son was named morning glory optic disc anomaly. There was a high uncertainty that whether morning glory includes colobomatous defects or its just the abnormal regression of mesodermal embryonic disc structures. Bron et al in 1989 described the same disorder under the term Papillorenal syndrome.

Schimmenti et al. & Sanyanusin et al. in 1995 four individuals ( One father and 3 sons) of having coloboma of the optic nerve, kidney anomalies, and also the presence of vesicoureteral reflux. The father on workup was found to be having normal with respect to the renal function. Although Eye examination showed the presence of myopia a coloboma in the eyes bilaterally. But all 3 sons were having kidneys and eyes affected to a variable extent.

Parsa in 1998 concluded that this is most likely a condition of the dysplastic disc rather than being called coloboma, so the papillorenal syndrome was the most appropriate term designated.

Amiel et al. in 2000 described a family of 3 members with striking ocular phenotypic variability. One of them was having renal hypoplasia along with eye manifestation while the other 2 were having renal anomalies ( Unilateral cystic renal hypoplasia) with optic disc anomalies bilaterally.

According to PubMed search performed in November 2010, The RCS is more common with 131 citations identified when the people searched for the term 'Renal-coloboma syndrome' as compared to only 18 citations that have been identified when people used the search term as 'Papillorenal syndrome'. The difference in results and the observation is mainly due to the differences in the explanation or description of phenotypic changes in the eye. For many ophthalmologists, the eye findings are mainly due to the failure of the optic fissure to close during eye development and should be called coloboma. For others, eye manifestation should be regarded as Dysplasia.

Eccles and Schimmenti, 1999; Negrisolo et al., 2011[2] summarized Less common findings associated with expression of the PAX2 gene in numerous tissues with the disease include hearing loss, CNS anomalies, joint problems, ligament laxity, soft skin.

Schimmenti in 2011- Summarized The ocular and renal anomalies result in a wide range of manifestations. They commonly result in decreased visual activity along with retinal detachment, renal insufficiency, proteinuria, hypertension, which can rapidly go on to develop end-stage renal disease.

Negrisolo et al., 2011; latropoulos at al., 2012.- This disorder has shown a wide variety of familial variability with a variable presentation in different family members. The patients under the category of CAKUT that are 'congenital anomalies of the kidney and urinary tract' present with renal features without remarkable ocular changes, the same is the case with some patients having PAX2 mutations[3][4]. In these patients the ocular manifestations may be hard to detect without the use of advanced screening techniques or it can be normal.

References

  1. ↑ "OMIM Entry - # 120330 - PAPILLORENAL SYNDROME; PAPRS".
  2. ↑ "PAX2-Related Disorder - GeneReviews® - NCBI Bookshelf".
  3. ↑ Deng H, Zhang Y, Xiao H, Yao Y, Liu X, Su B, Zhang H, Xu K, Wang S, Wang F, Ding J (June 2019). "Diverse phenotypes in children with PAX2-related disorder". Mol Genet Genomic Med. 7 (6): e701. doi:10.1002/mgg3.701. PMC 6565600 Check |pmc= value (help). PMID 31060108.
  4. ↑ 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.

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