Papillorenal syndrome physical examination: Difference between revisions
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[[File:Renal-coloboma syndrome.png|thumb|420x420px|'''Renal-coloboma syndrome- Eyes and renal manifestations observed clinically.''' Right (A) and Left (B) wide and deeply excavated optic disc shown in the image suggestive of optic disc dysplasia, also called a variant of "''Morning glory''". Right (C) and Left (D) eye showing bilateral optic disc dysplasia and Macular degeneration of left eye, Surrounded by numerous arrows shown. (E) Glomerulus showing mesangial cell proliferation on hematoxylin and eosin stain]] | [[File:Renal-coloboma syndrome.png|thumb|420x420px|'''Renal-coloboma syndrome- Eyes and renal manifestations observed clinically.''' Right (A) and Left (B) wide and deeply excavated optic disc shown in the image suggestive of optic disc dysplasia, also called a variant of "''Morning glory''". Right (C) and Left (D) eye showing bilateral optic disc dysplasia and Macular degeneration of the left eye, Surrounded by numerous arrows shown. (E) Glomerulus showing mesangial cell proliferation on hematoxylin and eosin stain]] | ||
Renal-coloboma syndrome mainly involves | Renal-coloboma syndrome mainly involves eyes and kidneys. The organ-specific abnormalities commonly corresponds to tissue specific PAX2 gene<ref name="pmid9106533">{{cite journal |vauthors=Schimmenti LA, Cunliffe HE, McNoe LA, Ward TA, French MC, Shim HH, Zhang YH, Proesmans W, Leys A, Byerly KA, Braddock SR, Masuno M, Imaizumi K, Devriendt K, Eccles MR |title=Further delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical PAX2 mutations |journal=Am. J. Hum. Genet. |volume=60 |issue=4 |pages=869–78 |date=April 1997 |pmid=9106533 |pmc=1712484 |doi= |url=}}</ref> expression during the embryonic period. The commonly affected tissues are inner ear, brain (CNS), spinal cord and less commonly urogenital ridge<ref name="pmid9712525">{{cite journal |vauthors=Terzić J, Muller C, Gajović S, Saraga-Babić M |title=Expression of PAX2 gene during human development |journal=Int. J. Dev. Biol. |volume=42 |issue=5 |pages=701–7 |date=July 1998 |pmid=9712525 |doi= |url=}}</ref><ref name="pmid10869107">{{cite journal |vauthors=Tellier AL, Amiel J, Delezoide AL, Audollent S, Augé J, Esnault D, Encha-Razavi F, Munnich A, Lyonnet S, Vekemans M, Attié-Bitach T |title=Expression of the PAX2 gene in human embryos and exclusion in the CHARGE syndrome |journal=Am. J. Med. Genet. |volume=93 |issue=2 |pages=85–8 |date=July 2000 |pmid=10869107 |doi=10.1002/1096-8628(20000717)93:2<85::aid-ajmg1>3.0.co;2-b |url=}}</ref><ref name="pmid14566649">{{cite journal |vauthors=Schimmenti LA, Manligas GS, Sieving PA |title=Optic nerve dysplasia and renal insufficiency in a family with a novel PAX2 mutation, Arg115X: further ophthalmologic delineation of the renal-coloboma syndrome |journal=Ophthalmic Genet. |volume=24 |issue=4 |pages=191–202 |date=December 2003 |pmid=14566649 |doi=10.1076/opge.24.4.191.17229 |url=}}</ref> | ||
===Ocular Abnormalities=== | ===Ocular Abnormalities=== | ||
The eye findings are- | The eye findings are- | ||
*Enlargement of optic disc with blood vessels seen coming out from the periphery. | *Enlargement of the optic disc with blood vessels seen coming out from the periphery. | ||
*Retinal vessels observed in patients with RCS are more in number and tortuosity as compared to | *Retinal vessels observed in patients with RCS are more in number and tortuosity as compared to see in the normal individuals. | ||
*Other eye anomalies seen in patients with RCS are optic nerve dysplasia, morning glory abnormality. | *Other eye anomalies seen in patients with RCS are optic nerve dysplasia, morning glory abnormality. | ||
*Less common seen anomalies are: | *Less common seen anomalies are: | ||
| Line 34: | Line 34: | ||
**Foveal hypoplasia and macular anomalies. | **Foveal hypoplasia and macular anomalies. | ||
The visual acuity for patients with RCS ranges from normal to marked impairment in vision to near | The visual acuity for patients with RCS ranges from normal to marked impairment in vision to near blindness. Nystagmus and strabismus noted in patients involved in different studies may or may not be considered as a part of this syndrome. Anisometric visual acuity also noted in patients with RCS varied from 20/20 in one eye to just mere light perception in the other eye. Other common findings seen in patients on examination include varying degrees of myopia, calcified degeneration of cornea, retinal detachment, and/or progressive vision loss. | ||
===Renal Abnormalities=== | ===Renal Abnormalities=== | ||
Renal malformations are commonly seen in all the patents with RCS and that too even before the | Renal malformations are commonly seen in all the patents with RCS and that too even before the appearance of eye anomalies. Renal abnormalities found in RCS patients with PAX2 gene expression are | ||
*Renal hypoplasia/ hypo dysplasia | *Renal hypoplasia/ hypo dysplasia | ||
**kidneys that have malformed function with small number of functional glomeruli and can develop ESRD at any point of the disease. | **kidneys that have a malformed function with a small number of functional glomeruli and can develop ESRD at any point of the disease. | ||
**Somewhere around 10% of the patients with these kidneys found to have PAX2 gene mutation | **Somewhere around 10% of the patients with these kidneys found to have PAX2 gene mutation | ||
*Oligomeganephronia | *Oligomeganephronia | ||
**Condition seen in some of the patients with Renal-coloboma syndrome and this usually refers to the marked reduction in number of functionally intact nephrons | **Condition seen in some of the patients with Renal-coloboma syndrome and this usually refers to the marked reduction in the number of functionally intact nephrons | ||
**Compensatory glomerular hypertrophy seen. | **Compensatory glomerular hypertrophy seen. | ||
**Glomerulosclerosis and meningeal fibrous deposits are most common findings seen on histopathology. | **Glomerulosclerosis and meningeal fibrous deposits are the most common findings seen on histopathology. | ||
*Multicystic dysplastic kidneys - These are commonly seen in around 10% of the patients reported with RCS. | *Multicystic dysplastic kidneys - These are commonly seen in around 10% of the patients reported with RCS. | ||
Revision as of 20:20, 11 September 2020
Overview
In most of the patients, the symptoms will differ depending upon a case by case basis. People with a similar disease might have a variable presentation and may not have all the mentioned symptoms. This valuable information is usually collected from the database of Human phenotype Ontology (HPO). the HPO usually collects the symptoms the is usually described or mentioned in the various publications and medical resources.
| Medical Terms | Other Names |
|---|---|
| Optic Nerve Dysplasia | |
| Renal Insufficiency | Renal failure |
Physical examination
Renal-coloboma syndrome mainly involves eyes and kidneys. The organ-specific abnormalities commonly corresponds to tissue specific PAX2 gene[1] expression during the embryonic period. The commonly affected tissues are inner ear, brain (CNS), spinal cord and less commonly urogenital ridge[2][3][4]
Ocular Abnormalities
The eye findings are-
- Enlargement of the optic disc with blood vessels seen coming out from the periphery.
- Retinal vessels observed in patients with RCS are more in number and tortuosity as compared to see in the normal individuals.
- Other eye anomalies seen in patients with RCS are optic nerve dysplasia, morning glory abnormality.
- Less common seen anomalies are:
- Scleral staphyloma,
- Optic nerve cyst,
- Microphthalmia,
- Reduced corneal diameters
- Foveal hypoplasia and macular anomalies.
The visual acuity for patients with RCS ranges from normal to marked impairment in vision to near blindness. Nystagmus and strabismus noted in patients involved in different studies may or may not be considered as a part of this syndrome. Anisometric visual acuity also noted in patients with RCS varied from 20/20 in one eye to just mere light perception in the other eye. Other common findings seen in patients on examination include varying degrees of myopia, calcified degeneration of cornea, retinal detachment, and/or progressive vision loss.
Renal Abnormalities
Renal malformations are commonly seen in all the patents with RCS and that too even before the appearance of eye anomalies. Renal abnormalities found in RCS patients with PAX2 gene expression are
- Renal hypoplasia/ hypo dysplasia
- kidneys that have a malformed function with a small number of functional glomeruli and can develop ESRD at any point of the disease.
- Somewhere around 10% of the patients with these kidneys found to have PAX2 gene mutation
- Oligomeganephronia
- Condition seen in some of the patients with Renal-coloboma syndrome and this usually refers to the marked reduction in the number of functionally intact nephrons
- Compensatory glomerular hypertrophy seen.
- Glomerulosclerosis and meningeal fibrous deposits are the most common findings seen on histopathology.
- Multicystic dysplastic kidneys - These are commonly seen in around 10% of the patients reported with RCS.
- Horse shoe kidney
- ESRD- End stage renal disease can happen anytime during the course of disease.
- It can be present in the prenatal period with severe presentation of Hypoplastic, aplastic kidneys or in some cases as oligomennorhea that ultimately in some cases leads to the loss of fetus.
- ESRD can be seen in the prenatal period or in adults in the late seventh decade.
- Other findings- Hypertension, Proteinuria, VUR.
- Vesicoureteral reflux can be present in association to patients with RCS but in most of the cases this resolves spontaneously.
- In severe cases it can be further complicated with infections of urinary tract and fluid collection in the kidneys due to back flow( hydronephrosis) ultimately requiring the surgery for the resolution of condition.
Auditory findings
- Hearing loss can be seen in only 10% of the patients affected with Renal-coloboma syndrome.
- As PAX2 gene expression during the childhood regulates the cochlear development, a mutation in PAX2 gene can cause abnormalities with hearing.
- The High frequency hearing loss seen in patients with RCS appears to be significant factor rather than confusing it with age related hearing loss.
Other Less common clinical associations
The other less common findings seen in patients with RCS are Ligamentous laxity. So far only one patient is identified with Chiari 1 malformation with PAX2 mutation.
| Medical Terms | Other Names |
|---|---|
| Multicystic kidney dysplasia | |
| Myopia | Near Sighted
Near Sightedness Close Sightedness |
| Renal Hypoplsia |
Small Kidneys
Underdeveloped Kidneys |
| Renal dysplasia | |
| Stage 5 Chronic Kidney Disease | |
| Visual Impairment | Impairment in vision
Loss of eye sight |
| Vesicoureteral Reflux |
| Medical Terms | Other names |
|---|---|
| Cataract | Clouding of the eye lens |
| Horse shoe kidneys | |
| Lens Luxation | Dislocated Lens |
| Hearing Impairment | |
| Nephrolithiasis | Kidney Stones |
| Nystagmus | Rapid, Involuntary, rhythmic eye movements |
| Renal Malrotation | |
| Retinal detachment | |
| Strabismus | Cross Eyes
Squint |
| Retinal Coloboma | Hole in the back side of eye |
References
- ↑ Schimmenti LA, Cunliffe HE, McNoe LA, Ward TA, French MC, Shim HH, Zhang YH, Proesmans W, Leys A, Byerly KA, Braddock SR, Masuno M, Imaizumi K, Devriendt K, Eccles MR (April 1997). "Further delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical PAX2 mutations". Am. J. Hum. Genet. 60 (4): 869–78. PMC 1712484. PMID 9106533.
- ↑ Terzić J, Muller C, Gajović S, Saraga-Babić M (July 1998). "Expression of PAX2 gene during human development". Int. J. Dev. Biol. 42 (5): 701–7. PMID 9712525.
- ↑ Tellier AL, Amiel J, Delezoide AL, Audollent S, Augé J, Esnault D, Encha-Razavi F, Munnich A, Lyonnet S, Vekemans M, Attié-Bitach T (July 2000). "Expression of the PAX2 gene in human embryos and exclusion in the CHARGE syndrome". Am. J. Med. Genet. 93 (2): 85–8. doi:10.1002/1096-8628(20000717)93:2<85::aid-ajmg1>3.0.co;2-b. PMID 10869107.
- ↑ Schimmenti LA, Manligas GS, Sieving PA (December 2003). "Optic nerve dysplasia and renal insufficiency in a family with a novel PAX2 mutation, Arg115X: further ophthalmologic delineation of the renal-coloboma syndrome". Ophthalmic Genet. 24 (4): 191–202. doi:10.1076/opge.24.4.191.17229. PMID 14566649.