Papillorenal syndrome history and symptoms
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
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, 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]
Up to one-third of diagnosed patients develop end-stage
| EYE MENIFESTATION | RENAL MENIFESTATION | URETERAL MENIFESTATIONS | SKELETAL MENIFESTATIONS | SKIN MENIFESTATIONS |
|---|---|---|---|---|
| Optiv Nerve Dysplasia | Renal Hypoplais | Vesicoureteral reflux | Joint laxity | Hyperextandable skin |
| Coloboma of optic nerve | Renal cyst | Example | Example | Soft skin |
| Optic disc dysplasia | End-stage renal disease | Example | Example | Example |
| Optic disc hyperplasia | Multicystic dysplastic kidneys | Example | Example | Example |
| Optic disc hypoplasia | CAKUT | Example | Example | Example |
| Orbital cyst | Example | Retinal | Example | Example |
| Microphthalmia | Example | Example | Example | Example |
| Abnormal retinal vessel | Example | Example | Example | Example |
| Absent optic nerve head | Example | Example | Example | Example |
| Chorioretinal degeneration | Example | Example | Example | Example |
| Moring glory optic disc | Example | Example | Example | Example |
kidney disease, which may lead to complete kidney failure.[4]
Retinal detachment (rare)
Retinal staphyloma (rare)Retinal edema (rare)Macular degeneration (rare)Papillomacular detachment (rare)Hyperpigmentation of the macula (rare)Cystic degeneration of the macula (rare)Posterior lens luxation (rare)Lens opacity (rare)
PAPILLORENAL SYNDROME
- Travels to other generations via Autosomal dominant inheritance.
ORGANS EFFECTED AND SYMPTOMS
Ears
Hearing Loss- Sensorineural loss, less commonly seen feature.
Eyes
Most important component and disease determining factor
Eyes manifestations are:
- Retinal coloboma
- Optic nerve coloboma
- Optic disc dysplasia
- Excavation of optic disc
- Optic disc hyperplasia
- Morning glory optic disc
- Hypoplastic optic disc
- Orbital cysts
- Microphthalmia
- Gliosis of optic nerve
- Absent optic nerve head
- Abnormal retinal pigment epithelium
- Abnormal retinal vessels
- Chorioretinal degeneration
- Retinal detachment (rare)
- Retinal staphyloma (rare)
- Retinal edema (rare)
- Macular degeneration (rare)
- Papillomacular detachment (rare)
- Hyperpigmentation of the macula (rare)
- Cystic degeneration of the macula (rare)
- Posterior lens luxation (rare)
- Lens opacity (rare)
GENITOURINARY
Kidneys
- Congenital anomalies of the kidney and urinary tract (CAKUT)
- Renal hypoplasia
- End stage renal failure
- Renal cysts
- Multicystic dysplastic kidneys
- Medullary sponge kidney (rare)
- Horseshoe kidney (rare)
- Nephrolithiasis (rare)
- Renal malrotation (rare)
- Anomalous renal pelvis (rare)
Ureters
- Vesicoureteral reflux
- Pyeloureteral duplication (rare)
SKELETAL
- Joint laxity
SKIN, NAILS, & HAIR
Skin
- Hyperextensible skin
- Soft skin
NEUROLOGIC
Central Nervous System
- Normal intelligence
- Mental retardation (one patient)
- Seizure disorder
- Arnold Chiari type I malformation
LABORATORY ABNORMALITIES
- Proteinuria
MISCELLANEOUS
- Onset in infancy
- Variable phenotype
- Ocular abnormalities may be very mild
- End-stage renal disease (CKD Stage 5) requiring kidney transplantation is commonly reported
MOLECULAR BASIS
- Caused by mutation in the paired box homeotic gene 2
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".