Browsing by Subject "medullary sponge kidney"

Now showing items 1-10 of 10

    • Article  

      Autosomal dominant medullary cystic kidney disease: Evidence of gene locus heterogeneity 

      Fuchshuber, A.; Constantinou-Deltas, Constantinos D.; Berthold, S.; Stavrou, Christoforos V.; Vollmer, M.; Burton, C.; Feest, T.; Krieter, D.; Gal, A.; Brandis, M.; Pierides, Alkis M.; Hildebrandt, F. (1998)
      Autosomal dominant medullary cystic kidney disease (ADMCKD
    • Article  

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

      Stavrou, Christoforos V.; Koptides, Michael; Tombazos, C.; Psara, E.; Patsias, Charalambos; Zouvani, Ioanna; Kyriacou, Kyriacos C.; Hildebrandt, F.; Christofides, Tasos C.; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D. (2002)
      Background. Autosomal-dominant medullary cystic kidney disease (ADMCKD), a hereditary chronic interstitial nephropathy, recently attracted attention because of the cloning or mapping of certain gene loci, namely NPHP1, ...
    • Article  

      Chromosome 1 localization of a gene for autosomal dominant medullary cystic kidney disease (ADMCKD) 

      Christodoulou, Kyproula; Tsingis, Marios; Stavrou, Christoforos V.; Eleftheriou, Andri; Papapavlou, Petros; Patsalis, Philippos C.; Ioannou, Panayiotis A.; Pierides, Alkis M.; Constantinou-Deltas, Constantinos D. (1998)
      There is a group of inherited cystic nephropathies that are characterized by juvenile onset recessive inheritance (familial juvenile nephronophthisis, FJN) or by adult onset dominant inheritance (medullary cystic disease, ...
    • Article  

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

      Wolf, M. T. F.; Mucha, B. E.; Hennies, H. C.; Attanasio, M.; Panther, F.; Zalewski, I.; Karle, S. M.; Otto, E. A.; Constantinou-Deltas, Constantinos D.; Fuchshuber, A.; Hildebrandt, F. (2006)
      Medullary cystic kidney disease type 1 (MCKD1) is an autosomal dominant, tubulo-interstitial nephropathy that causes renal salt wasting and end-stage renal failure in the fourth to seventh decade of life. MCKD1 was localized ...
    • Article  

      Medullary cystic kidney disease with hyperuricemia and gout in a large Cypriot family: No allelism with nephronophthisis type 1 

      Stavrou, Christoforos V.; Pierides, Alkis M.; Zouvani, Ioanna; Kyriacou, Kyriacos C.; Antignac, C.; Neophytou, Pavlos; Christodoulou, Kyproula; Constantinou-Deltas, Constantinos D. (1998)
      We describe a large Cypriot family with an interstitial type of nephropathy, inherited as an autosomal dominant trait that led to end stage renal failure between 51 to 78 years of age (mean 62.2 years). Twenty-three people ...
    • Article  

      Novel NPR1 polymorphic variants and its exclusion as a candidate gene for medullary cystic kidney disease (ADMCKD) type 1 

      Koptides, Michael; Mean, R.; Stavrou, Christoforos V.; Pierides, Alkis M.; Demetriou, Kyproula; Nakayama, T.; Hildebrandt, F.; Fuchshuber, A.; Constantinou-Deltas, Constantinos D. (2001)
      Autosomal dominant medullary cystic kidney disease (ADMCKD) is an adult-onset heterogeneous genetic nephropathy characterized by salt wasting and end-stage renal failure. The gene responsible for ADMCKD-1 was mapped on ...
    • Article  

      Outcome of kidney transplantation in autosomal dominant medullary cystic kidney disease type 1 

      Stavrou, Christoforos V.; Constantinou-Deltas, Constantinos D.; Christofides, Tasos C.; Pierides, Alkis M. (2003)
      Background. Autosomal dominant medullary cystic kidney disease (ADMCKD) is an inherited, distinct, chronic, tubulointerstitial, cystic-type nephropathy, often described together with juvenile nephronophthisis as a single ...
    • Article  

      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 

      Rüschendorf, F.; Fuchshuber, A.; Kroiss, S.; Karle, S.; Berthold, S.; Huck, K.; Burton, C.; Rahman, N.; Koptides, Michael; Constantinou-Deltas, Constantinos D.; Otto, E.; Feest, T.; Hildebrandt, F. (2001)
      Autosomal dominant medullary cystic kidney disease (MCKD) is an adult onset tubulointerstitial nephropathy that leads to salt wasting and end-stage renal failure. A gene locus (MCKD1) has been mapped on chromosome 1q21. ...
    • Article  

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

      Soloukides, Andreas P.; Moutzouris, Dimitrios Anestis D.; Papagregoriou, Gregory N.; Stavrou, Christoforos V.; Constantinou-Deltas, Constantinos D.; Tzanatos, Helen A. (2013)
      Background: Medullary cystic kidney disease (MCKD) is an inherited interstitial nephritis, leading to endstage renal disease (ESRD) between the fourth and seventh decade of life. MCKD shares clinical and morphological ...
    • Article  

      Variable clinical presentation of an MUC1 mutation causing medullary cystic kidney disease type 1 

      Bleyer, A. J.; Kmoch, S.; Antignac, C.; Robins, V.; Kidd, K.; Kelsoe, J. R.; Hladik, G.; Klemmer, P.; Knohl, S. J.; Scheinman, S. J.; Vo, N.; Santi, A.; Harris, A.; Canaday, O.; Weller, N.; Hulick, P. J.; Vogel, K.; Rahbari-Oskoui, F. F.; Tuazon, J.; Constantinou-Deltas, Constantinos D.; Somers, D.; Megarbane, A.; Kimmel, P. L.; Sperati, C. J.; Orr-Urtreger, A.; Ben-Shachar, S.; Waugh, D. A.; Mcginn, S.; Bleyer Jr., A. J.; Hodaňová, K.; Vyletal, P.; Živná, M.; Hart, T. C.; Hart, P. S. (2014)
      Background and objectives The genetic cause of medullary cystic kidney disease type 1 was recently identified as a cytosine insertion in the variable number of tandem repeat region of MUC1 encoding mucoprotein-1 (MUC1), a ...