Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Papillorenales Syndrom

Das papillorenale Syndrom ist eine autosomal dominante Erkrankung, die durch Mutationen des PAX2-Gens hervorgerufen wird. Zu den wesentlichen Merkmalen zählen ein Kolobom des Nervus opticus und Nierenfehlbildungen. Daneben können nicht selten auftreten: ein vesikorenaler Reflux, Hochtonschwerhörigkeit, Veränderungen im zentralen Nervensystem und genitale Fehlbildungen.

Gliederung

Angeborene Fehlbildungen des Urogenitalsystems
Branchio-Oto-Renale Dysplasie
Branchiootische Syndrom
Denys-Drash-Syndrom
Frasier-Syndrom
Goldberg-Shprintzen-Syndrom
Mowat-Wilson-Syndrom
Nierenzysten und Diabetes (RCAD)
Papillorenales Syndrom
PAX2
Renal Dysplasie mit Hypopituitarismus und Diabetes
Renal-hepatisch-pankreatische Dysplasie
Renale Hypodysplasie/Aplasie
Renotubuläre Dysgenesie
WAGR-Syndrom

Referenzen:

1.

Schimmenti LA et al. (1999) Homonucleotide expansion and contraction mutations of PAX2 and inclusion of Chiari 1 malformation as part of renal-coloboma syndrome.

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2.

Amiel J et al. (2000) PAX2 mutations in renal-coloboma syndrome: mutational hotspot and germline mosaicism.

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3.

Ford B et al. (2001) Renal-coloboma syndrome: prenatal detection and clinical spectrum in a large family.

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4.

Nishimoto K et al. (2001) PAX2 gene mutation in a family with isolated renal hypoplasia.

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5.

Chung GW et al. (2001) Renal-coloboma syndrome: report of a novel PAX2 gene mutation.

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6.

Higashide T et al. (2005) Macular abnormalities and optic disk anomaly associated with a new PAX2 missense mutation.

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7.

Martinovic-Bouriel J et al. (2010) PAX2 mutations in fetal renal hypodysplasia.

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8.

Bower M et al. (2012) Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus-specific database.

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9.

Naito T et al. (1989) Nature of renal involvement in the acro-renal-ocular syndrome.

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10.

Weaver RG et al. (1988) Optic nerve coloboma associated with renal disease.

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11.

Sanyanusin P et al. (1995) Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux.

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12.

Schimmenti LA et al. (1995) Autosomal dominant optic nerve colobomas, vesicoureteral reflux, and renal anomalies.

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13.

Sanyanusin P et al. (1995) Mutation of PAX2 in two siblings with renal-coloboma syndrome.

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14.

Eccles MR et al. (1999) Renal-coloboma syndrome: a multi-system developmental disorder caused by PAX2 mutations.

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15.

Parsa CF et al. (2001) Redefining papillorenal syndrome: an underdiagnosed cause of ocular and renal morbidity.

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16.

Schimmenti LA et al. (2011) Renal coloboma syndrome.

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17.

Bron AJ et al. (1989) Papillo-renal syndrome. An inherited association of optic disc dysplasia and renal disease. Report and review of the literature.

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18.

Kindler P et al. (1970) Morning glory syndrome: unusual congenital optic disk anomaly.

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19.

Karcher H et al. (1979) [The morning glory syndrome].

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20.

Rieger G et al. (1977) [On the clinical picture of Handmann's anomaly of the optic nerve Morning glory syndrome? (author's transl)].

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21.

Cunliffe HE et al. (1998) The prevalence of PAX2 mutations in patients with isolated colobomas or colobomas associated with urogenital anomalies.

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