Clinico-pathologic findings in medullary cystic kidney disease type 2

2005 ◽  
Vol 20 (6) ◽  
pp. 824-827 ◽  
Author(s):  
Anthony J. Bleyer ◽  
Thomas C. Hart ◽  
Mark C. Willingham ◽  
Samy S. Iskandar ◽  
Michael C. Gorry ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Disease Type ◽  
Cystic Kidney Disease ◽  
Cystic Kidney ◽  
Medullary Cystic Kidney Disease ◽  
Pathologic Findings

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.

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
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