scholarly journals Further evidence for linkage of autosomal-dominant medullary cystic kidney disease on chromosome 1q21

2001 ◽  
Vol 60 (4) ◽  
pp. 1225-1232 ◽  
Author(s):  
Mari Auranen ◽  
Sirpa Ala-Mello ◽  
Joni A. Turunen ◽  
Irma Järvelä
Keyword(s):  
Kidney Disease ◽  
Autosomal Dominant ◽  
Cystic Kidney Disease ◽  
Cystic Kidney ◽  
Medullary Cystic Kidney Disease ◽  
Chromosome 1Q21

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

Cosegregation of Bipolar Disorder and Autosomal-Dominant Medullary Cystic Kidney Disease in a Large Family

2005 ◽  
Vol 162 (10) ◽  
pp. 1972-1974 ◽  
Author(s):  
Ryan J. Kimmel ◽  
Ildiko Kovacs ◽  
Cathy Vrabel ◽  
Barry Wood ◽  
Martin Schalling ◽  
...  
Keyword(s):  
Bipolar Disorder ◽  
Kidney Disease ◽  
Autosomal Dominant ◽  
Large Family ◽  
Cystic Kidney Disease ◽  
Cystic Kidney ◽  
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

scholarly journals Evidence of further genetic heterogeneity in autosomal dominant medullary cystic kidney disease

2000 ◽  
Vol 15 (6) ◽  
pp. 818-821 ◽  
Author(s):  
Sabine Kroiss ◽  
Kirsten Huck ◽  
Silke Berthold ◽  
Franz Rüschendorf ◽  
Francesco Scolari ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Genetic Heterogeneity ◽  
Autosomal Dominant ◽  
Cystic Kidney Disease ◽  
Cystic Kidney ◽  
Medullary Cystic Kidney Disease

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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