Renal coloboma syndrome

Dureau, P.; Attié‐Bitach, Tania; Salomon, Rémi; Bettembourg, O.; Amiel, Jeanne; Uteza, Yves; Dufier, Jean‐Louis

doi:10.1016/s0161-6420(01)00722-9

Cited by 75 publications

(59 citation statements)

References 21 publications

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“…Coloboma are typically asymmetrical with, for example, a normal eye or mild defect in one eye, and a severe central abnormality in the other. 27 Likewise, the severity of the defect varies in individual members of a family. There is no treatment and they may be complicated by glaucoma, retinal detachment, and central serous retinopathy.…”

Section: Colobomamentioning

confidence: 99%

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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%

“…Inheritance is autosomal dominant, but only 50% of patients with the renal-coloboma syndrome have PAX2 mutations. 22,27 The other genes are not known. PAX2 mutations are different in each family and have their effect through interfering with the vascular supply of the urinary tract and eye.…”

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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“…Therefore identifying PAX2 mutation is not necessary for definite diagnosis which is particularly based on clinical evaluation. Mutations in PAX2 have been identified in 50% of persons with RCS (1,8) and it is estimated that about half of individuals with RCS do not have a known genetic basis (9). In our patient PAX2 gene were amplified from extracted DNA by using polymerase chain reaction primers.…”

Section: Discussionmentioning

confidence: 99%

Renal coloboma syndrome associated with double- chambered right ventricle

Gökçe

Gökoğlan²,

Hürmeriç³

et al. 2013

Anadolu Kardiyol Derg

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teminde hasar bulunduğunu düşündürmektedir. Ayrıca yavaş ventriküler taşikardi nedeniyle yapılmış olan radyofrekans ablasyon da ileti sistemindeki hasarı artırmış olabilir. Sağ ventrikül uyarılmasına ek olarak atriyoventriküler dissenkroninin de kalp yetersizliğini kötüleştirdiği düşünülmüştür. Hastanın cihazının CRT-D olarak değiştirilmesiyle sol ventrikül doluş basın-cında düşüş ve kalp yetersizliği semptomlarında düzelme sağlanmıştır. SonuçMiyokart enfarktüsü sonrası VT nedeniyle ICD implante edilmeden önce elektrofizyolojik çalışma ile ileti sistemindeki hasar bölgesinin belirlenmesi ve yüksek dereceli AV blok riskinin öngörülebilmesi müm-kündür. Böyle bir hastada AV blok nedeniyle ICD'nin sağ ventrikül apikal uyarı yapması ve atriyoventriküler dissenkroni hastanın kalp yetersizliğini kötüleştirebilir. Sol ventrikül işlevlerinin kötüleşmesinin önüne geçilebilmesi amacıyla elektrofizyolojik çalışmada distal ileti sistemi kusuru gösterilen hastalarda CRT-D düşünülebilir.

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“…51 to date, PAX2, the gene encoding the transcription factor PaX2 (10q24.31), is the only gene known to be associated with rCs. 70 studies have reported that 50% of individuals with rCs have mutations in PAX2, 71 and three genomic rearrangements of PAX2 have been shown to be linked with rCs-a de novo 10;13 chromosome translocation, and two deletions of the entire PAX2 locus. 72 as rCs is inherited in an autosomal dominant manner, individuals from families with an identified mutation or probands can be tested by sequence analysis HDr dysplasia syndrome Hypoparathyroidism-deafness-renal dysplasia (HDr) syndrome includes the association of hypoparathyroidism, sensorineural deafness and renal disease, including vur.…”

Section: Syndromes Associated With Vur In Humansmentioning

confidence: 99%

Genetics of vesicoureteral reflux

et al. 2011

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| Primary vesicoureteral reflux (VUR) is the most common urological anomaly in children, affecting 1-2% of the pediatric population and 30-40% of children presenting with urinary tract infections (UTIs). Refluxassociated nephropathy is a major cause of childhood hypertension and chronic renal failure. The hereditary and familial nature of VUR is well recognized and several studies have reported that siblings of children with VUR have a higher incidence of reflux than the general pediatric population. Familial clustering of VUR implies that genetic factors have an important role in its pathogenesis, but no single major locus or gene for VUR has yet been identified and most researchers now acknowledge that VUR is genetically heterogeneous. Improvements in genome-scan techniques and continuously increasing knowledge of the genetic basis of VUR should help us to further understand its pathogenesis.

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Renal coloboma syndrome

Cited by 75 publications

References 21 publications

Retinal Abnormalities Characteristic of Inherited Renal Disease

Retinal Abnormalities Characteristic of Inherited Renal Disease

Renal coloboma syndrome associated with double- chambered right ventricle

Genetics of vesicoureteral reflux

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