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 kidney disease, which may lead to complete kidney failure.[4]
PAPILLORENAL SYNDROME; PAPRS
INHERITANCE
- Autosomal dominant [SNOMEDCT: 771269000, 263681008] [UMLS: C0443147, C1867440 HPO: HP:0000006] [HPO: HP:0000006 UMLS: C0443147]
HEAD & NECK
Ears
- Sensorineural hearing loss (rare) [UMLS: C3805430] [HPO: HP:0000407 UMLS: C0018784]
Eyes
- Retinal coloboma [SNOMEDCT: 204173008, 39302008] [ICD10CM: Q14.8] [ICD9CM: 743.52] [UMLS: C3540764, C0240896 HPO: HP:0000480, HP:0000567] [HPO: HP:0000480 UMLS: C0240896]
- Optic nerve coloboma [SNOMEDCT: 44295002] [ICD10CM: H47.31, Q14.2, H47.319] [ICD9CM: 377.23] [UMLS: C0155299 HPO: HP:0000588] [HPO: HP:0000588 UMLS: C0155299]
- Optic disc dysplasia [SNOMEDCT: 722604002] [UMLS: C1846467]
- Excavation of optic disc (pits) [UMLS: C3549614]
- Optic disc hyperplasia [UMLS: C3549615]
- Morning glory optic disc [UMLS: C3554721 HPO: HP:0025514] [HPO: HP:0025514]
- Hypoplastic optic disc [SNOMEDCT: 373650004] [UMLS: C1298695 HPO: HP:0007766]
- Orbital cysts [SNOMEDCT: 31021007] [ICD10CM: H05.81] [ICD9CM: 376.81] [UMLS: C0155285 HPO: HP:0001144] [HPO: HP:0001144 UMLS: C0155285]
- Microphthalmia [SNOMEDCT: 61142002, 204108000] [ICD10CM: Q11.2] [ICD9CM: 743.10, 743.1, 743.11] [UMLS: C0026010 HPO: HP:0000568] [HPO: HP:0000568 UMLS: C0026010, C4280625, C4280808]
- Gliosis of optic nerve [UMLS: C3549617]
- Absent optic nerve head [UMLS: C3549618]
- Abnormal retinal pigment epithelium [UMLS: C3549619]
- Abnormal retinal vessels [UMLS: C3549620]
- Chorioretinal degeneration [SNOMEDCT: 247177004] [UMLS: C0521683 HPO: HP:0200065] [HPO: HP:0200065 UMLS: C0521683]
- Retinal detachment (rare) [UMLS: C3549621] [HPO: HP:0000541 UMLS: C0035305]
- Retinal staphyloma (rare) [UMLS: C3549622]
- Retinal edema (rare) [UMLS: C3549623]
- Macular degeneration (rare) [UMLS: C3549624] [HPO: HP:0000608 UMLS: C0024437]
- Papillomacular detachment (rare) [UMLS: C3549625]
- Hyperpigmentation of the macula (rare) [UMLS: C3549626]
- Cystic degeneration of the macula (rare) [UMLS: C3549627]
- Posterior lens luxation (rare) [UMLS: C3549628]
- Lens opacity (rare) [UMLS: C3549629] [HPO: HP:0000518 UMLS: C0086543, C1510497]
GENITOURINARY
Kidneys
- Congenital anomalies of the kidney and urinary tract (CAKUT) [UMLS: C1968949]
- Renal hypoplasia [SNOMEDCT: 32659003] [ICD10CM: Q60.5] [UMLS: C0266295 HPO: HP:0000089] [HPO: HP:0000089 UMLS: C0266295]
- End stage renal failure [SNOMEDCT: 433146000, 90688005, 46177005] [ICD10CM: N18.6, N18.5, N18.9] [ICD9CM: 585.6] [UMLS: C0022661, C2316810 HPO: HP:0003774] [HPO: HP:0003774 UMLS: C2316810]
- Renal cysts [SNOMEDCT: 722223000] [UMLS: C3887499 HPO: HP:0000107] [HPO: HP:0000107 UMLS: C0022679, C3887499]
- Multicystic dysplastic kidneys [SNOMEDCT: 82525005, 737562008] [ICD10CM: Q61.4] [UMLS: C3714581 HPO: HP:0000003]
- Medullary sponge kidney (rare) [UMLS: C3549606]
- Horseshoe kidney (rare) [UMLS: C3549607] [HPO: HP:0000085 UMLS: C0221353]
- Nephrolithiasis (rare) [UMLS: C3549608] [HPO: HP:0000787 UMLS: C0392525]
- Renal malrotation (rare) [UMLS: C3549609] [HPO: HP:0004712 UMLS: C0238210]
- Anomalous renal pelvis (rare) [UMLS: C3549610]
Ureters
- Vesicoureteral reflux [SNOMEDCT: 197811007] [ICD10CM: N13.70, N13.7] [ICD9CM: 593.7] [UMLS: C0042580 HPO: HP:0000076] [HPO: HP:0000076 UMLS: C0042580]
- Pyeloureteral duplication (rare) [UMLS: C3549611]
SKELETAL
- Joint laxity [SNOMEDCT: 298203008] [UMLS: C0086437 HPO: HP:0001388] [HPO: HP:0001388 UMLS: C0086437, C0158359]
SKIN, NAILS, & HAIR
Skin
- Hyperextensible skin [UMLS: C0241074 HPO: HP:0000974] [HPO: HP:0000974 UMLS: C0241074]
- Soft skin [UMLS: C1844592 HPO: HP:0000977] [HPO: HP:0000977 UMLS: C0241178, C1844592]
NEUROLOGIC
Central Nervous System
- Normal intelligence [SNOMEDCT: 26941006] [UMLS: C0423900]
- Mental retardation (one patient) [UMLS: C1852760] [HPO: HP:0001249 UMLS: C0025362, C0423903, C0917816, C1843367, C3714756, C4020876]
- Seizure disorder [SNOMEDCT: 128613002, 84757009] [ICD10CM: G40.9, G40.909] [ICD9CM: 345.9] [UMLS: C0014544 HPO: HP:0001250]
- Arnold Chiari type I malformation [SNOMEDCT: 253185002] [UMLS: C0750929 HPO: HP:0007099] [HPO: HP:0007099 UMLS: C0750929]
LABORATORY ABNORMALITIES
- Proteinuria [SNOMEDCT: 29738008, 231860006] [ICD10CM: R80, R80.9] [ICD9CM: 791.0] [UMLS: C4554346, C1279888, C0033687, C1962972 HPO: HP:0000093] [HPO: HP:0000093 UMLS: C0033687]
MISCELLANEOUS
- Onset in infancy [UMLS: C1848924 HPO: HP:0003593] [HPO: HP:0003593 UMLS: C1848924]
- Variable phenotype [UMLS: C1837514 HPO: HP:0003812] [HPO: HP:0003812 UMLS: C1837514, C1839039, C1850667, C1866210]
- Ocular abnormalities may be very mild [UMLS: C3805429]
- End-stage renal disease (CKD Stage 5) requiring kidney transplantation is commonly reported [UMLS: C3549613]
MOLECULAR BASIS
- Caused by mutation in the paired box homeotic gene 2 (PAX2, 167409.0001)
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)
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