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

Genomics ◽  
2001 ◽  
Vol 72 (3) ◽  
pp. 278-284 ◽  
Author(s):  
A. Fuchshuber ◽  
S. Kroiss ◽  
S. Karle ◽  
S. Berthold ◽  
K. Huck ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Gene Locus ◽  
Autosomal Dominant ◽  
Disease Type ◽  
Cystic Kidney Disease ◽  
Cystic Kidney ◽  
Medullary Cystic Kidney Disease

Renal graft outcome in autosomal dominant medullary cystic kidney disease type 1

2013 ◽  
Vol 26 (4) ◽  
pp. 793-798 ◽  
Author(s):  
Andreas P. Soloukides ◽  
Dimitrios-Anestis D. Moutzouris ◽  
Gregory N. Papagregoriou ◽  
Christoforos V. Stavrou ◽  
Constantinos C. Deltas ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Autosomal Dominant ◽  
Disease Type ◽  
Cystic Kidney Disease ◽  
Cystic Kidney ◽  
Renal Graft ◽  
Graft Outcome ◽  
Medullary Cystic Kidney Disease

scholarly journals Autosomal-dominant medullary cystic kidney disease type 1: Clinical and molecular findings in six large Cypriot families

2002 ◽  
Vol 62 (4) ◽  
pp. 1385-1394 ◽  
Author(s):  
Christoforos Stavrou ◽  
Michael Koptides ◽  
Christos Tombazos ◽  
Evlalia Psara ◽  
Charalambos Patsias ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Autosomal Dominant ◽  
Disease Type ◽  
Cystic Kidney Disease ◽  
Cystic Kidney ◽  
Medullary Cystic Kidney Disease

Medullary cystic kidney disease type 1: mutational analysis in 37 genes based on haplotype sharing

2006 ◽  
Vol 119 (6) ◽  
pp. 649-658 ◽  
Author(s):  
Matthias T. F. Wolf ◽  
Bettina E. Mucha ◽  
Hans C. Hennies ◽  
Massimo Attanasio ◽  
Franziska Panther ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Mutational Analysis ◽  
Disease Type ◽  
Cystic Kidney Disease ◽  
Cystic Kidney ◽  
Haplotype Sharing ◽  
Medullary Cystic Kidney Disease

scholarly journals Variable Clinical Presentation of an MUC1 Mutation Causing Medullary Cystic Kidney Disease Type 1

2014 ◽  
Vol 9 (3) ◽  
pp. 527-535 ◽  
Author(s):  
Anthony J. Bleyer ◽  
Stanislav Kmoch ◽  
Corinne Antignac ◽  
Vicki Robins ◽  
Kendrah Kidd ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Clinical Presentation ◽  
Disease Type ◽  
Cystic Kidney Disease ◽  
Cystic Kidney ◽  
Medullary Cystic Kidney Disease ◽  
Variable Clinical Presentation

scholarly journals Familial Juvenile Hyperuricemic Nephropathy and Autosomal Dominant Medullary Cystic Kidney Disease Type 2: Two Facets of the Same Disease?

2001 ◽  
Vol 12 (11) ◽  
pp. 2348-2357 ◽  
Author(s):  
KARIN DAHAN ◽  
ARNO FUCHSHUBER ◽  
STAVROULA ADAMIS ◽  
MICHÈLE SMAERS ◽  
SABINE KROISS ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Autosomal Dominant ◽  
Disease Type ◽  
Basement Membranes ◽  
Cystic Kidney Disease ◽  
Cystic Kidney ◽  
Autosomal Dominant Disorder ◽  
Medullary Cystic Kidney Disease ◽  
Familial Juvenile Hyperuricemic Nephropathy

Abstract. Familial juvenile hyperuricemic nephropathy (FJHN) is an autosomal dominant disorder heralded by hyperuricemia during childhood; it is characterized by chronic interstitial nephritis, with marked thickening of tubular basement membranes, and leads to progressive renal failure during adulthood. A gene for FJHN in two Czech families was recently mapped to chromosome 16p11.2, close to the MCKD2 locus, which is responsible for a variant of autosomal dominant medullary cystic kidney disease observed in an Italian family. In a large Belgian family with FJHN, a tight linkage between the disorder and the marker D16S3060, located within the MCKD2 locus on chromosome 16p12 (maximal two-point logarithmic odds score of 3.74 at a recombination fraction of θ = 0), was observed in this study. The candidate region was further narrowed to a 1.3-Mb interval between D16S501 and D16S3036. Together with the striking clinical and pathologic resemblance between previously reported medullary cystic kidney disease type 2 and FJHN occurring in the Belgian family (including the presence of medullary cysts), this study suggests that these two disorders are facets of the same disease.

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