Papillorenal syndrome history and symptoms: Difference between revisions
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{{Papillorenal syndrome}} | {{Papillorenal syndrome}} | ||
{{CMG}} | {{CMG}} {{AE}} {{Shivam Singla}} | ||
==Overview== | ==Overview== | ||
The [[Ocular]] and [[renal]] [[anomalies]] are the most important diagnostic findings representing in patients with characteristic signs and symptoms. Mutation in [[PAX2]] Gene causes [[optic disc]] [[dysplasia]] and [[coloboma]] seen in most of the cases is due to the failure of the choroidal fissure to close. Despite the similarities with [[Colomba]] and [[morning glory]] anomaly, significant differences exist such that [[optic disc]] [[dysplasia]] cannot be classified as either one entity. [[Optic disc]] [[dysplasia]] is noted by an ill-defined inferior excavation, the convoluted origin of the [[superior retinal vessels]], an excessive number of vessels, [[infrapappilary]] pigmentary disturbance, and slight band of [[retinal]] elevation adjacent to the disk. Some patients have the normal or near-normal [[vision]], but others have [[visual impairment]] associated with the disease, though it is not certain if this is due only to the [[dysplastic]] [[optic nerves]], or a possible contribution from [[macular]] and [[retinal]] [[malformations]]. The most common malformation in patients with the syndrome is [[kidney hypoplasia]], which is small and underdeveloped kidneys, often leading to [[end-stage renal disease]] (ESRD). Estimates show approximately 10% of children with [[hypoplastic kidneys]] are linked to the disease. Many different [[histological]] abnormalities have been noted, including a decrease in [[nephron]] number associated with [[hypertrophy]], [[focal segmental glomerulosclerosis]], [[interstitial fibrosis]], and [[tubular atrophy]], [[multicystic dysplastic kidney]]. | |||
==History and Symptoms== | ==History and Symptoms== | ||
===Ocular Defects=== | ===Ocular Defects=== | ||
Ocular disc dysplasia is the most notable ocular defect of the disease. An abnormal development in the optic stalk causes optic disc dysplasia, which is caused by a mutation in the ''Pax2'' gene.<ref name="arizona">{{cite web |url=http://disorders.eyes.arizona.edu/disorders/papillorenal-syndrome |title=Papillorenal Syndrome | Hereditary Ocular Diseases |format= |work= |accessdate=}}</ref> The nerve head typically resembles the morning glory anomaly, but has also been described as a colomba.<ref name="arizona">http://disorders.eyes.arizona.edu/disorders/papillorenal-syndrome</ref> A colomba is the failure to close the choroid fissure, which is the opening from the ventral side of the [[retina]] in the optic stalk.<ref name="devbio">{{cite journal |author=Boffa LC, Vidali G, Allfrey VG |title=Changes in nuclear non-histone protein composition during normal differentiation and carcinogenesis of intestinal epithelial cells |journal=Exp. Cell Res. |volume=98 |issue=2 |pages=396–410 |year=1976 |month=March |pmid=1253852 |doi= |url=}}</ref> Despite the similarities with colomba and morning glory anamoly, significant differences exist such that optic disc dysplasia cannot be classified as either one entity.<ref name="atlas">{{cite web |url=http://www.atlasophthalmology.com/atlas/photo.jsf;jsessionid=44C85D3CEF95069496731252C2C34222?node=3088&locale=en |title=Atlas of Ophthalmology |format= |work= |accessdate=}}</ref> | [[Ocular disc]] [[dysplasia]] is the most notable ocular defect of the disease. An abnormal development in the [[optic]] stalk causes [[optic disc dysplasia]], which is caused by a mutation in the ''[[Pax2]]'' gene.<ref name="arizona">{{cite web |url=http://disorders.eyes.arizona.edu/disorders/papillorenal-syndrome |title=Papillorenal Syndrome | Hereditary Ocular Diseases |format= |work= |accessdate=}}</ref> The nerve head typically resembles the morning glory anomaly, but has also been described as a colomba.<ref name="arizona">http://disorders.eyes.arizona.edu/disorders/papillorenal-syndrome</ref> A colomba is the failure to close the choroid fissure, which is the opening from the ventral side of the [[retina]] in the optic stalk.<ref name="devbio">{{cite journal |author=Boffa LC, Vidali G, Allfrey VG |title=Changes in nuclear non-histone protein composition during normal differentiation and carcinogenesis of intestinal epithelial cells |journal=Exp. Cell Res. |volume=98 |issue=2 |pages=396–410 |year=1976 |month=March |pmid=1253852 |doi= |url=}}</ref> Despite the similarities with [[colomba]] and [[morning glory]] anamoly, significant differences exist such that [[optic disc dysplasia]] cannot be classified as either one entity.<ref name="atlas">{{cite web |url=http://www.atlasophthalmology.com/atlas/photo.jsf;jsessionid=44C85D3CEF95069496731252C2C34222?node=3088&locale=en |title=Atlas of Ophthalmology |format= |work= |accessdate=}}</ref> | ||
Optic disc dysplasia is noted by an ill defined inferior excavation, convoluted origin of the superior retinal vessels, excessive number of vessels, infrapappilary pigmentary disturbance, and slight band of retinal elevation adjacent to the disk.<ref name="atlas">http://www.atlasophthalmology.com/atlas/photo.jsf;jsessionid=44C85D3CEF95069496731252C2C34222?node=3088&locale=en</ref> Some patients have normal or near normal vision, but others have visual impairment associated with the disease, though it is not certain if this is due only to the dysplastic optic nerves, or a possible contribution from macular and retinal malformations.<ref name="arizona">http://disorders.eyes.arizona.edu/disorders/papillorenal-syndrome</ref> The retinal vessels are abnormal or absent, in some cases having small vessels exiting the periphery of the disc. There is a great deal of clinical variability.<ref name="arizona">http://disorders.eyes.arizona.edu/disorders/papillorenal-syndrome</ref> | [[Optic disc]] [[dysplasia]] is noted by an ill-defined inferior excavation, the convoluted origin of the superior retinal vessels, excessive number of vessels, [[infrapappilary]] pigmentary disturbance, and a slight band of [[retinal]] elevation adjacent to the disk.<ref name="atlas">http://www.atlasophthalmology.com/atlas/photo.jsf;jsessionid=44C85D3CEF95069496731252C2C34222?node=3088&locale=en</ref> Some patients have a normal or near-normal vision, but others have visual impairment associated with the disease, though it is not certain if this is due only to the dysplastic optic nerves, or a possible contribution from macular and retinal malformations.<ref name="arizona">http://disorders.eyes.arizona.edu/disorders/papillorenal-syndrome</ref> The retinal vessels are abnormal or absent, in some cases having small vessels exiting the periphery of the disc. There is a great deal of clinical variability.<ref name="arizona">http://disorders.eyes.arizona.edu/disorders/papillorenal-syndrome</ref> | ||
===Kidney Defects=== | ===Kidney Defects=== | ||
The most common malformation in patients with the syndrome is kidney hypodysplasia, which are small and underdeveloped kidneys, often leading to [[end-stage renal disease]] (ESRD).<ref name="schim">{{cite pmid|20301624}}</ref> Estimates show approximately 10% of children with hypoplastic kidneys are linked to the disease.<ref name="condition">{{cite web |url=http://ghr.nlm.nih.gov/condition/renal-coloboma-syndrome |title=Renal coloboma syndrome - Genetics Home Reference |format= |work= |accessdate=}}</ref> Many different histological abnormalities have been noted, including: | The most common [[malformation]] in patients with the syndrome is [[kidney]] [[hypodysplasia]]<ref name="schim">{{cite pmid|20301624}}</ref>, which are small and underdeveloped [[kidneys]], often leading to [[end-stage renal disease]] (ESRD).<ref name="schim">{{cite pmid|20301624}}</ref> Estimates show approximately 10% of children with [[hypoplastic kidneys]] are linked to the [[disease]].<ref name="condition">{{cite web |url=http://ghr.nlm.nih.gov/condition/renal-coloboma-syndrome |title=Renal coloboma syndrome - Genetics Home Reference |format= |work= |accessdate=}}</ref> Many different histological abnormalities have been noted, including: | ||
* | *Decrease in [[nephron]] number associated with [[hypertrophy]] | ||
* | *[[Focal segmental glomerulosclerosis[[ | ||
*interstitial fibrosis and tubular atrophy | *[[interstitial fibrosis]] and [[tubular atrophy]] | ||
* | *[[Multicystic]] [[dysplastic kidney]]<ref name="schim">{{cite pmid|20301624}}</ref> | ||
* | |||
== Common Organs Affected And Their Menifestations In Patients With Renal-coloboma Syndrome == | |||
<br /> | |||
{| class="wikitable" | |||
|- | |||
!EYE MENIFESTATION!!RENAL MENIFESTATION!!URETERAL MENIFESTATIONS!!SKELETAL MENIFESTATIONS!!SKIN MENIFESTATIONS!!NEUROLOGIC MENIFESTATIONS | |||
|- | |||
|'''[[Optic Nerve Dysplasia]]'''||'''[[Renal Hypoplasia]]'''||'''[[Vesicoureteral reflux]]'''||[[Joint laxity]]||[[Hyperextandable skin]]||Normal [[intelligence]] | |||
|- | |||
|[[Coloboma]] of [[optic nerve]]||[[Renal cyst]]||Pyeloureteral duplication (Rare)|| ||Soft skin||[[Seizure]] disorder | |||
|- | |||
|Optic disc [[dysplasia]]||[[End-stage renal disease]]|| || || ||[[Arnold Chiari type I malformation]] | |||
|- | |||
|[[Optic disc]] [[hyperplasia]]||[[Multicystic]] [[dysplastic kidneys]]|| || || ||Mental retardation (one patient) | |||
|- | |||
|[[Optic disc]] [[hypoplasia]]||[[CAKUT]]|| || || || | |||
|- | |||
|[[Orbital cyst]]||[[Medullary sponge kidney]] (Rare)|||| || || | |||
|- | |||
|[[Microphthalmia]]||[[Nephrolithiasis]] (Rare) || || || || | |||
|- | |||
|Abnormal [[retinal]] vessel||[[Horseshoe kidney]] (Rare) || || || || | |||
|- | |||
|Absent [[optic nerve]] head|| Anomalous [[renal pelvis]] (Rare) || || || || | |||
|- | |||
|[[Chorioretinal degeneration]]||[[Renal malrotation]] (Rare) || || || || | |||
|- | |||
|[[Moring glory]] [[optic disc]]||[[Medullary sponge kidney]] (Rare) || || || || | |||
|- | |||
|[[Macular degeneration]] (Rare)|| || || || || | |||
|- | |||
|[[Papillomacular detachment]] (Rare)|| || || || || | |||
|- | |||
|[[Retinal Edema]] (Rare)|| || || || || | |||
|- | |||
|[[Retinal detachment]] (Rare)|| || || || || | |||
|- | |||
|[[Retinal staphyloma]] (Rare)|| || || || || | |||
|- | |||
|Cystic degenration of [[macula]] (Rare)|| || || || || | |||
|- | |||
|Posterior [[lens subluxation]] (Rare)|| || || || || | |||
|- | |||
|[[Lens opacity]] (Rare)|| || || || || | |||
|- | |||
|[[Hyperpigmentation]] of [[macula]] (Rare)|| || || || || | |||
|} | |||
'''MISCELLANEOUS''' | |||
{| class="wikitable" | |||
|- | |||
! Miscellaneous Findings in RCS Syndrome | |||
|- | |||
- | | Lab- [[Proteinuria]] | ||
|- | |||
| Variable [[Phenotype]] | |||
|- | |||
| Onset in [[Infancy]] | |||
|- | |||
- | | [[ESRD]] may require [[Kidney]] [[Transplantation]] | ||
|- | |||
| [[Ocular]] abnormalities may be very mild | |||
|- | |||
- | | Caused as a result of paired box homeotic [[gene]] 2 mutation | ||
|} | |||
- | |||
- | |||
- | |||
- | |||
- | |||
==References== | ==References== | ||
Latest revision as of 14:43, 10 September 2020
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Shivam Singla, M.D.[2]
Overview
The Ocular and renal anomalies are the most important diagnostic findings representing in patients with characteristic signs and symptoms. Mutation in PAX2 Gene causes optic disc dysplasia and coloboma seen in most of the cases is due to the failure of the choroidal fissure to close. Despite the similarities with Colomba and morning glory anomaly, significant differences exist such that optic disc dysplasia cannot be classified as either one entity. Optic disc dysplasia is noted by an ill-defined inferior excavation, the convoluted origin of the superior retinal vessels, an excessive number of vessels, infrapappilary pigmentary disturbance, and slight band of retinal elevation adjacent to the disk. Some patients have the normal or near-normal vision, but others have visual impairment associated with the disease, though it is not certain if this is due only to the dysplastic optic nerves, or a possible contribution from macular and retinal malformations. The most common malformation in patients with the syndrome is kidney hypoplasia, which is small and underdeveloped kidneys, often leading to end-stage renal disease (ESRD). Estimates show approximately 10% of children with hypoplastic kidneys are linked to the disease. Many different histological abnormalities have been noted, including a decrease in nephron number associated with hypertrophy, focal segmental glomerulosclerosis, interstitial fibrosis, and tubular atrophy, multicystic dysplastic kidney.
History and Symptoms
Ocular Defects
Ocular disc dysplasia is the most notable ocular defect of the disease. An abnormal development in the optic stalk causes optic disc dysplasia, which is caused by a mutation in the Pax2 gene.[1] The nerve head typically resembles the morning glory anomaly, but has also been described as a colomba.[1] A colomba is the failure to close the choroid fissure, which is the opening from the ventral side of the retina in the optic stalk.[2] Despite the similarities with colomba and morning glory anamoly, significant differences exist such that optic disc dysplasia cannot be classified as either one entity.[3]
Optic disc dysplasia is noted by an ill-defined inferior excavation, the convoluted origin of the superior retinal vessels, excessive number of vessels, infrapappilary pigmentary disturbance, and a slight band of retinal elevation adjacent to the disk.[3] Some patients have a normal or near-normal vision, but others have visual impairment associated with the disease, though it is not certain if this is due only to the dysplastic optic nerves, or a possible contribution from macular and retinal malformations.[1] The retinal vessels are abnormal or absent, in some cases having small vessels exiting the periphery of the disc. There is a great deal of clinical variability.[1]
Kidney Defects
The most common malformation in patients with the syndrome is kidney hypodysplasia[4], which are small and underdeveloped kidneys, often leading to end-stage renal disease (ESRD).[4] Estimates show approximately 10% of children with hypoplastic kidneys are linked to the disease.[5] Many different histological abnormalities have been noted, including:
- Decrease in nephron number associated with hypertrophy
- [[Focal segmental glomerulosclerosis[[
- interstitial fibrosis and tubular atrophy
- Multicystic dysplastic kidney[4]
Common Organs Affected And Their Menifestations In Patients With Renal-coloboma Syndrome
MISCELLANEOUS
| Miscellaneous Findings in RCS Syndrome |
|---|
| Lab- Proteinuria |
| Variable Phenotype |
| Onset in Infancy |
| ESRD may require Kidney Transplantation |
| Ocular abnormalities may be very mild |
| Caused as a result of paired box homeotic gene 2 mutation |
References
- ↑ 1.0 1.1 1.2 1.3 "Papillorenal Syndrome | Hereditary Ocular Diseases".
- ↑ Boffa LC, Vidali G, Allfrey VG (1976). "Changes in nuclear non-histone protein composition during normal differentiation and carcinogenesis of intestinal epithelial cells". Exp. Cell Res. 98 (2): 396–410. PMID 1253852. Unknown parameter
|month=ignored (help) - ↑ 3.0 3.1 "Atlas of Ophthalmology".
- ↑ 4.0 4.1 4.2 PMID 20301624 (PMID 20301624)
Citation will be completed automatically in a few minutes. Jump the queue or expand by hand - ↑ "Renal coloboma syndrome - Genetics Home Reference".