Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Medulläre Zystenniernerkrankung 1

Die medulläre Zystenniernerkrankung 1 ist eine autosomal dominante Erkrankung, die durch Mutationen des MUC1-Gens hervorgerufen wird. Das Hauptmerkmal sind medullären Nierenzysten. Die Progression der Niereninsuffizienz ist recht langsam.

Gliederung

Medulläre Nierenzysten
Medulläre Zystenniernerkrankung 1
MUC1
Medulläre Zystenniernerkrankung 2

Referenzen:

1.

Kiser RL et al. (2004) Medullary cystic kidney disease type 1 in a large Native-American kindred.

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2.

Kirby A et al. (2013) Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing.

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3.

Ala-Mello S et al. () Nephronophthisis in Finland: epidemiology and comparison of genetically classified subgroups.

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4.

Fuchshuber A et al. (2001) Refinement of the gene locus for autosomal dominant medullary cystic kidney disease type 1 (MCKD1) and construction of a physical and partial transcriptional map of the region.

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5.

Giangiacomo J et al. (1975) Medullary cystic disease vs nephronophthisis. A valid distinction?

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6.

Wolf MT et al. (2003) Refinement of the critical region for MCKD1 by detection of transcontinental haplotype sharing.

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7.

ABESHOUSE BS et al. (1960) Sponge kidney: a review of the litrature and a report of five cases.

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8.

Wolf MT et al. (2004) Telomeric refinement of the MCKD1 locus on chromosome 1q21.

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9.

Kimmel RJ et al. (2005) Cosegregation of bipolar disorder and autosomal-dominant medullary cystic kidney disease in a large family.

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10.

Wolf MT et al. (2006) Medullary cystic kidney disease type 1: mutational analysis in 37 genes based on haplotype sharing.

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11.

Wrigley KA et al. (1973) Progressive hereditary nephropathy. A variant of medullary cystic disease?

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12.

Rayfield EJ et al. (1972) Red and blonde hair in renal medullary cystic disease.

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13.

Gardner KD et al. (1971) Evolution of clinical signs in adult-onset cystic disease of the renal medulla.

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14.

Goldman SH et al. (1966) Hereditary occurrence of cystic disease of the renal medulla.

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15.

Copping GA et al. (1967) Medullary sponge kidney: its occurrence in a father and daughter.

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16.

Chamberlin BC et al. (1977) Juvenile nephronophthisis and medullary cystic disease.

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17.

Christodoulou K et al. (1998) Chromosome 1 localization of a gene for autosomal dominant medullary cystic kidney disease.

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18.

Stavrou C et al. (1998) Medullary cystic kidney disease with hyperuricemia and gout in a large Cypriot family: no allelism with nephronophthisis type 1.

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