Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

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.

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

external link
2.

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

external link
3.

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

external link
4.

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

external link
5.

None (1967) Medullary sponge kidney: its occurrence in a father and daughter.

external link
6.

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

external link
7.

None (1971) Evolution of clinical signs in adult-onset cystic disease of the renal medulla.

external link
8.

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

external link
9.

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

external link
10.

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

external link
11.

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

external link
12.

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

external link
13.

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

external link
14.

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

external link
15.

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

external link
16.

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.

external link
17.

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

external link
18.

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.

external link
19.

OMIM.ORG article

Omim 174000 external link
Update: 14. August 2020
Copyright © 2005-2020 Zentrum für Nephrologie und Stoffwechsel, Dr. Mato Nagel
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Deutschland, Tel.: +49-3576-287922, Fax: +49-3576-287944
Seitenüberblick | Webmail | Haftungsausschluss | Datenschutz