Papillorenal syndrome physical examination: Difference between revisions
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*Renal hypoplasia/ hypo dysplasia<ref name="pmid16971658">{{cite journal |vauthors=Weber S, Moriniere V, Knüppel T, Charbit M, Dusek J, Ghiggeri GM, Jankauskiené A, Mir S, Montini G, Peco-Antic A, Wühl E, Zurowska AM, Mehls O, Antignac C, Schaefer F, Salomon R |title=Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study |journal=J. Am. Soc. Nephrol. |volume=17 |issue=10 |pages=2864–70 |date=October 2006 |pmid=16971658 |doi=10.1681/ASN.2006030277 |url=}}</ref> | *Renal hypoplasia/ hypo dysplasia<ref name="pmid16971658">{{cite journal |vauthors=Weber S, Moriniere V, Knüppel T, Charbit M, Dusek J, Ghiggeri GM, Jankauskiené A, Mir S, Montini G, Peco-Antic A, Wühl E, Zurowska AM, Mehls O, Antignac C, Schaefer F, Salomon R |title=Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study |journal=J. Am. Soc. Nephrol. |volume=17 |issue=10 |pages=2864–70 |date=October 2006 |pmid=16971658 |doi=10.1681/ASN.2006030277 |url=}}</ref> | ||
**kidneys that have a malformed function with a small number of functional glomeruli and can develop ESRD at any point in the disease. | **kidneys that have a malformed function with a small number of functional glomeruli and can develop ESRD at any point in 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<ref name="pmid11461952">{{cite journal |vauthors=Nishimoto K, Iijima K, Shirakawa T, Kitagawa K, Satomura K, Nakamura H, Yoshikawa N |title=PAX2 gene mutation in a family with isolated renal hypoplasia |journal=J. Am. Soc. Nephrol. |volume=12 |issue=8 |pages=1769–72 |date=August 2001 |pmid=11461952 |doi= |url=}}</ref><ref name="pmid21108633">{{cite journal |vauthors=Negrisolo S, Benetti E, Centi S, Della Vella M, Ghirardo G, Zanon GF, Murer L, Artifoni L |title=PAX2 gene mutations in pediatric and young adult transplant recipients: kidney and urinary tract malformations without ocular anomalies |journal=Clin. Genet. |volume=80 |issue=6 |pages=581–5 |date=December 2011 |pmid=21108633 |doi=10.1111/j.1399-0004.2010.01588.x |url=}}</ref> | ||
*Oligomeganephronia | *Oligomeganephronia<ref name="pmid11168927">{{cite journal |vauthors=Salomon R, Tellier AL, Attie-Bitach T, Amiel J, Vekemans M, Lyonnet S, Dureau P, Niaudet P, Gubler MC, Broyer M |title=PAX2 mutations in oligomeganephronia |journal=Kidney Int. |volume=59 |issue=2 |pages=457–62 |date=February 2001 |pmid=11168927 |doi=10.1046/j.1523-1755.2001.059002457.x |url=}}</ref> | ||
**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 | **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 the 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<ref name="pmid16049068">{{cite journal |vauthors=Fletcher J, Hu M, Berman Y, Collins F, Grigg J, McIver M, Jüppner H, Alexander SI |title=Multicystic dysplastic kidney and variable phenotype in a family with a novel deletion mutation of PAX2 |journal=J. Am. Soc. Nephrol. |volume=16 |issue=9 |pages=2754–61 |date=September 2005 |pmid=16049068 |doi=10.1681/ASN.2005030239 |url=}}</ref> - These are commonly seen in around 10% of the patients reported with RCS. | ||
* | *Horseshoe kidney<ref name="pmid17269592">{{cite journal |vauthors=Taranta A, Palma A, De Luca V, Romanzo A, Massella L, Emma F, Dello Strologo L |title=Renal-coloboma syndrome: a single nucleotide deletion in the PAX2 gene at Exon 8 is associated with a highly variable phenotype |journal=Clin. Nephrol. |volume=67 |issue=1 |pages=1–4 |date=January 2007 |pmid=17269592 |doi=10.5414/cnp67001 |url=}}</ref> | ||
*ESRD- End stage renal disease can happen anytime during the course of disease. | *ESRD- End-stage renal disease can happen anytime during the course of the disease. | ||
**It can be present in the prenatal period with severe presentation of Hypoplastic, aplastic kidneys or in some cases as | **It can be present in the prenatal period with a severe presentation of Hypoplastic, aplastic kidneys, or in some cases as oligomenorrhea that ultimately in some cases leads to the loss of the fetus. | ||
**ESRD can be seen in the prenatal period or in adults in the late seventh decade. | **ESRD can be seen in the prenatal period or in adults in the late seventh decade. | ||
*Other findings- Hypertension, Proteinuria, VUR. | *Other findings- Hypertension, Proteinuria, VUR. | ||
**Vesicoureteral reflux can be present in association to patients with RCS but in most | **Vesicoureteral reflux can be present in association to patients with RCS but in most 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 | **In severe cases it can be further complicated with infections of the urinary tract and fluid collection in the kidneys due to backflow( hydronephrosis) ultimately requiring the surgery for the resolution of the condition. | ||
===Auditory findings=== | ===Auditory findings=== | ||
Revision as of 20:44, 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][2] expression during the embryonic period. The commonly affected tissues are inner ear, brain (CNS), spinal cord and less commonly urogenital ridge[3][4][5]
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:
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[8][9], calcified degeneration of cornea, retinal detachment, lens abnormalities/luxation[10] 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[9][11]. Renal abnormalities found in RCS patients with PAX2 gene expression are
- Renal hypoplasia/ hypo dysplasia[12]
- Oligomeganephronia[15]
- 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[16] - These are commonly seen in around 10% of the patients reported with RCS.
- Horseshoe kidney[17]
- ESRD- End-stage renal disease can happen anytime during the course of the disease.
- It can be present in the prenatal period with a severe presentation of Hypoplastic, aplastic kidneys, or in some cases as oligomenorrhea that ultimately in some cases leads to the loss of the 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 cases, this resolves spontaneously.
- In severe cases it can be further complicated with infections of the urinary tract and fluid collection in the kidneys due to backflow( hydronephrosis) ultimately requiring the surgery for the resolution of the 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
- ↑ Cunliffe HE, McNoe LA, Ward TA, Devriendt K, Brunner HG, Eccles MR (October 1998). "The prevalence of PAX2 mutations in patients with isolated colobomas or colobomas associated with urogenital anomalies". J. Med. Genet. 35 (10): 806–12. doi:10.1136/jmg.35.10.806. PMC 1051454. PMID 9783702.
- ↑ 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.
- ↑ Higashide T, Wada T, Sakurai M, Yokoyama H, Sugiyama K (January 2005). "Macular abnormalities and optic disk anomaly associated with a new PAX2 missense mutation". Am. J. Ophthalmol. 139 (1): 203–5. doi:10.1016/j.ajo.2004.07.021. PMID 15652857.
- ↑ Samimi S, Antignac C, Combe C, Lacombe D, Renaud Rougier MB, Korobelnik JF (2008). "Bilateral macular detachment caused by bilateral optic nerve malformation in a papillorenal syndrome due to a new PAX2 mutation". Eur J Ophthalmol. 18 (4): 656–8. doi:10.1177/112067210801800430. PMID 18609495.
- ↑ Schimmenti LA, Pierpont ME, Carpenter BL, Kashtan CE, Johnson MR, Dobyns WB (November 1995). "Autosomal dominant optic nerve colobomas, vesicoureteral reflux, and renal anomalies". Am. J. Med. Genet. 59 (2): 204–8. doi:10.1002/ajmg.1320590217. PMID 8588587.
- ↑ 9.0 9.1 Chung GW, Edwards AO, Schimmenti LA, Manligas GS, Zhang YH, Ritter R (December 2001). "Renal-coloboma syndrome: report of a novel PAX2 gene mutation". Am. J. Ophthalmol. 132 (6): 910–4. doi:10.1016/s0002-9394(01)01231-4. PMID 11730657.
- ↑ Beby F, Roche O, Cochat P, Ranchin B, Kohler R, Bonifas C, Cordier MP, Attie-Bitach T, Burillon C, Denis P (July 2010). "New ocular phenotype associated with a mutation in the PAX2 gene". Eye (Lond). 24 (7): 1293–4. doi:10.1038/eye.2009.330. PMID 20075965.
- ↑ Amiel J, Audollent S, Joly D, Dureau P, Salomon R, Tellier AL, Augé J, Bouissou F, Antignac C, Gubler MC, Eccles MR, Munnich A, Vekemans M, Lyonnet S, Attié-Bitach T (November 2000). "PAX2 mutations in renal-coloboma syndrome: mutational hotspot and germline mosaicism". Eur. J. Hum. Genet. 8 (11): 820–6. doi:10.1038/sj.ejhg.5200539. PMID 11093271.
- ↑ Weber S, Moriniere V, Knüppel T, Charbit M, Dusek J, Ghiggeri GM, Jankauskiené A, Mir S, Montini G, Peco-Antic A, Wühl E, Zurowska AM, Mehls O, Antignac C, Schaefer F, Salomon R (October 2006). "Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study". J. Am. Soc. Nephrol. 17 (10): 2864–70. doi:10.1681/ASN.2006030277. PMID 16971658.
- ↑ Nishimoto K, Iijima K, Shirakawa T, Kitagawa K, Satomura K, Nakamura H, Yoshikawa N (August 2001). "PAX2 gene mutation in a family with isolated renal hypoplasia". J. Am. Soc. Nephrol. 12 (8): 1769–72. PMID 11461952.
- ↑ Negrisolo S, Benetti E, Centi S, Della Vella M, Ghirardo G, Zanon GF, Murer L, Artifoni L (December 2011). "PAX2 gene mutations in pediatric and young adult transplant recipients: kidney and urinary tract malformations without ocular anomalies". Clin. Genet. 80 (6): 581–5. doi:10.1111/j.1399-0004.2010.01588.x. PMID 21108633.
- ↑ Salomon R, Tellier AL, Attie-Bitach T, Amiel J, Vekemans M, Lyonnet S, Dureau P, Niaudet P, Gubler MC, Broyer M (February 2001). "PAX2 mutations in oligomeganephronia". Kidney Int. 59 (2): 457–62. doi:10.1046/j.1523-1755.2001.059002457.x. PMID 11168927.
- ↑ Fletcher J, Hu M, Berman Y, Collins F, Grigg J, McIver M, Jüppner H, Alexander SI (September 2005). "Multicystic dysplastic kidney and variable phenotype in a family with a novel deletion mutation of PAX2". J. Am. Soc. Nephrol. 16 (9): 2754–61. doi:10.1681/ASN.2005030239. PMID 16049068.
- ↑ Taranta A, Palma A, De Luca V, Romanzo A, Massella L, Emma F, Dello Strologo L (January 2007). "Renal-coloboma syndrome: a single nucleotide deletion in the PAX2 gene at Exon 8 is associated with a highly variable phenotype". Clin. Nephrol. 67 (1): 1–4. doi:10.5414/cnp67001. PMID 17269592.