Papillorenal syndrome history and symptoms
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
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, convoluted origin of the superior retinal vessels, excessive number of vessels, infrapappilary pigmentary disturbance, and slight band of retinal elevation adjacent to the disk.[3] 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.[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
| 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) | |||||
| Posterio lens subluxation (Rare) | |||||
| Lens opacity (Rare) | |||||
| Hyperpigmentation of macula (Rare) |
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".