scholarly journals Characterization of large rearrangements in autosomal dominant polycystic kidney disease and the PKD1/TSC2 contiguous gene syndrome

2008 ◽  
Vol 74 (11) ◽  
pp. 1468-1479 ◽  
Author(s):  
Mark B. Consugar ◽  
Wai C. Wong ◽  
Patrick A. Lundquist ◽  
Sandro Rossetti ◽  
Vickie J. Kubly ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Autosomal Dominant ◽  
Polycystic Kidney ◽  
Contiguous Gene ◽  
Autosomal Dominant Polycystic Kidney ◽  
Large Rearrangements

scholarly journals Tuberous sclerosis associated with autosomal dominant polycystic kidney disease: Case report about of the TSC2/PKD1 contiguous gene syndrome

2016 ◽  
Vol 49 (6) ◽  
pp. 583
Author(s):  
Rodolfo M. Queiroz ◽  
Michela P. Gomes ◽  
Marcus V. N. Valentin ◽  
Cecília H. Miyake ◽  
Lucas G. Abud ◽  
...  
Keyword(s):  
Case Report ◽  
Kidney Disease ◽  
Tuberous Sclerosis ◽  
Polycystic Kidney Disease ◽  
Autosomal Dominant ◽  
Polycystic Kidney ◽  
Contiguous Gene ◽  
Disease Case ◽  
Autosomal Dominant Polycystic Kidney

Relatamos o caso de mulher jovem portadora de doença renal crônica, com antecedentes de crises convulsivas, episódios de pneumotórax espontâneos e nefrectomia à esquerda. O estudo retrospectivo dos seus exames de imagem evidenciaram cistos hepáticos, renais e pulmonares; além de túberes corticais e nódulos subependimários no encéfalo. A avaliação anatomopatológica do rim removido cirurgicamente caracterizou doença policística renal do adulto. A revisão clínica em conjunto com esses exames revelou o diagnóstico de esclerose tuberosa e doença renal policística autossômica dominante, sugerindo síndrome do gene contíguo TSC2/PKD1

Cardiovascular characterization of Pkd2+/LacZ mice, an animal model for the autosomal dominant polycystic kidney disease type 2 (ADPKD2)

2007 ◽  
Vol 120 (2) ◽  
pp. 158-166 ◽  
Author(s):  
Jörg Stypmann ◽  
Markus A. Engelen ◽  
Stefan Orwat ◽  
Konstantinos Bilbilis ◽  
Markus Rothenburger ◽  
...  
Keyword(s):  
Animal Model ◽  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Autosomal Dominant ◽  
Disease Type ◽  
Polycystic Kidney ◽  
Autosomal Dominant Polycystic Kidney

scholarly journals Characterization of the renal cyst fluid proteome in autosomal dominant polycystic kidney disease (ADPKD) patients

2008 ◽  
Vol 2 (7-8) ◽  
pp. 1140-1152 ◽  
Author(s):  
Xianyin Lai ◽  
Robert L. Bacallao ◽  
Bonnie L. Blazer-Yost ◽  
David Hong ◽  
Stephen B. Mason ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Autosomal Dominant ◽  
Renal Cyst ◽  
Cyst Fluid ◽  
Polycystic Kidney ◽  
Autosomal Dominant Polycystic Kidney
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