Redefining papillorenal syndrome: an underdiagnosed cause of ocular and renal morbidity

Parsa, Cameron F.; Silva, Eduardo D.; Sundin, Olof; Goldberg, Morton F.; Jong, Monica; Sunness, Janet S.; Zeimer, Ran; Hunter, David G.

doi:10.1016/s0161-6420(00)00661-8

Cited by 94 publications

(83 citation statements)

References 29 publications

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“…Vision varies from normal to severely impaired. 33 Fewer than 20% of patients have associated sensorineural hearing loss, seizures, Arnold-Chiari malformations, or skin and joint laxity. 30 Patients with papillorenal syndrome should be monitored for ophthalmic complications and other family members screened carefully for optic disc defects.…”

Section: Colobomamentioning

confidence: 99%

Retinal Abnormalities Characteristic of Inherited Renal Disease

Savige

Ratnaike

Colville

2011

Journal of the American Society of Nephrology

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Section: Colobomamentioning

confidence: 99%

Retinal Abnormalities Characteristic of Inherited Renal Disease

Savige

Ratnaike

Colville

2011

Journal of the American Society of Nephrology

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“…Renal-Coloboma syndrome (RCS) is an autosomal dominant disorder that is caused by heterozygous loss of function mutations in the human PAX2 gene ( Table 1; 22). Kidneys of affected individuals are characterized by normal nephron structure but a substantial reduction in total nephron number often leading to chronic renal failure (23,24). Supporting the importance of PAX2 in human renal hypoplasia, mutations have also been detected in cases of isolated renal hypoplasia and a common variant in the PAX2 gene is associated with reduced kidney size (subtle renal hypoplasia) in newborns who lack any other phenotypic characteristic of PAX2 deficiency (25,26).…”

Section: Contribution Of the Ureteric Cell Lineage To Renal Hypoplasiamentioning

confidence: 99%

Genetics of Renal Hypoplasia: Insights Into the Mechanisms Controlling Nephron Endowment

et al. 2010

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ABSTRACT:Renal hypoplasia, defined as abnormally small kidneys with normal morphology and reduced nephron number, is a common cause of pediatric renal failure and adult-onset disease. Genetic studies performed in humans and mutant mice have implicated a number of critical genes, in utero environmental factors and molecular mechanisms that regulate nephron endowment and kidney size. Here, we review current knowledge regarding the genetic contributions to renal hypoplasia with particular emphasis on the mechanisms that control nephron endowment in humans and mice. R enal hypoplasia is a common, yet poorly understood and misused term describing congenital renal anomalies. Renal hypoplasia is defined as abnormally small kidneys (Ͻ2 SD below the expected mean when correlated with age or parameters of somatic growth) with normal morphology and reduced nephron number. This definition predicts that ϳ2.2% of the population exhibit renal hypoplasia, whereas epidemiologic studies suggest an estimated incidence of 1 in 400 births (1). Much confusion and the misapplication of this definition have arisen because the majority of congenitally small kidneys also exhibit evidence of tissue maldifferentiation, defined as renal dysplasia. The exact incidence of pure renal hypoplasia (without dysplasia) is difficult to define as renal dysplasia has often been incorrectly described as hypoplasia. This has predominantly been due to the lack of noninvasive diagnostic tools (i.e. Ultrasound) with resolution power adequate enough to discriminate dysplasia from hypoplasia in such settings. Severe reductions in nephron number that are characteristic of renal hypoplasia/dysplasia are the leading cause of childhood end stage renal disease. Indeed, if severe enough, these conditions can lead to significant impairment of intrauterine renal function which can in turn lead to the oligohydramnios sequence, a condition not compatible with extrauterine life. This includes severe and modest bilateral renal hypoplasia. More subtle defects in nephron number, such as those at the lower end of the normal range caused by mild bilateral renal hypoplasia, have been associated with the development of adult-onset hypertension and chronic renal failure (2-6). Here, we focus on knowledge derived from the study of human syndromic forms of renal hypoplasia and mouse mutants that provide insights into the molecular mechanisms that underlie renal hypoplasia and control nephron endowment. Congenital renal abnormalities characterized by nephron number and other renal pathologies including renal dysplasia, hydroureter, cystic dysplasia, and agenesis are reviewed in detail elsewhere (7-9). OVERVIEW OF KIDNEY DEVELOPMENTDevelopment of the mammalian metanephric kidney is dependent on reciprocal inductive interactions between two distinct cell lineages, the ureteric cell lineage and the metanephric mesenchyme (MM) cell lineage (Fig. 1). At the onset of metanephric development, signals emanating from the mass of uninduced MM initiate the formation of an epithelial bud (th...

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“…To many ophthalmologists, the eye findings fall under the phenotype called 'coloboma' , 5 meaning a condition that results from failure of the optic fissure to close during eye development. To others, the optic nerve findings should be described using the more general term, 'dysplasia' 6 with the preference for 'papillorenal' syndrome where the word 'papilla' refers to the optic papilla. In animal models, specifically mouse and zebrafish, Pax2/pax2a is expressed in the optic fissure; homozygous mutations lead to optic fissure closure defects and heterozygous mutations lead to similar defects as observed in human patients.…”

Section: Introductionmentioning

confidence: 99%

Renal coloboma syndrome

Schimmenti

2011

Eur J Hum Genet

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In association withRenal coloboma syndrome Renal coloboma syndrome (RCS), also called papillorenal syndrome, is an autosomal dominant condition characterized by optic nerve dysplasia and renal hypodysplasia. The eye anomalies consist of a wide and sometimes excavated dysplastic optic disc with the emergence of the retinal vessels from the periphery of the disc, frequently called optic nerve coloboma or morning glory anomaly. Associated findings may include a small corneal diameter, retinal coloboma, scleral staphyloma, optic nerve cyst and pigmentary macular dysplasia. The kidney abnormalities consist of small and abnormally formed kidneys known as renal hypodysplasia. Histologically, kidneys exhibit fewer than the normal number of glomeruli and these glomeruli are enlarged, a finding called oligomeganephronia. Consequences of the ocular malformations include decreased visual acuity and retinal detachment. Consequences of the renal hypodysplasia include hypertension, proteinuria and renal insufficiency that frequently progresses to end-stage kidney disease. High frequency hearing loss has been reported. Autosomal dominant mutations in PAX2 can be identified in nearly half of all patients with clinical findings suggestive of RCS, however, the majority of published cases have mutations in PAX2, thus biasing the known information about the phenotype.

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Redefining papillorenal syndrome: an underdiagnosed cause of ocular and renal morbidity

Cited by 94 publications

References 29 publications

Retinal Abnormalities Characteristic of Inherited Renal Disease

Retinal Abnormalities Characteristic of Inherited Renal Disease

Genetics of Renal Hypoplasia: Insights Into the Mechanisms Controlling Nephron Endowment

Renal coloboma syndrome

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