Gene linkage analysis and DNA based detection of autosomal dominant polycystic kidney disease (ADPKD) in a newborn infant. Case report

1995 ◽  
Vol 23 (3) ◽  
pp. 205-212 ◽  
Author(s):  
Alberto E. Turco ◽  
Ezio M. Padovani ◽  
Bernard Peissel ◽  
Gian Paolo Chiaffoni ◽  
Sandro Rossetti ◽  
...  
Keyword(s):  
Case Report ◽  
Kidney Disease ◽  
Linkage Analysis ◽  
Polycystic Kidney Disease ◽  
Newborn Infant ◽  
Autosomal Dominant ◽  
Polycystic Kidney ◽  
Gene Linkage ◽  
Autosomal Dominant Polycystic Kidney ◽  
Infant Case

Icelandic families with autosomal dominant polycystic kidney disease: families unlinked to chromosome 16p13.3 revealed by linkage analysis

1993 ◽  
Vol 91 (6) ◽  
Author(s):  
Ragnhei�ur Fossdal ◽  
Magnus B��arsson ◽  
P�ll �smundsson ◽  
J�hann Ragnarsson ◽  
Dorien Peters ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Linkage Analysis ◽  
Polycystic Kidney Disease ◽  
Autosomal Dominant ◽  
Polycystic Kidney ◽  
Chromosome 16P13.3 ◽  
Autosomal Dominant Polycystic Kidney

Tuberous Sclerosis Complex Mimicking Autosomal Dominant Polycystic Kidney Disease: A Case Report

2016 ◽  
Vol 25 ◽  
Author(s):  
Kübra Aydın Bahat ◽  
Abdullah Özkök ◽  
Yeşim Önal ◽  
Nazlı Dizman ◽  
Banu Şahin Yıldız ◽  
...  
Keyword(s):  
Case Report ◽  
Kidney Disease ◽  
Tuberous Sclerosis ◽  
Polycystic Kidney Disease ◽  
Tuberous Sclerosis Complex ◽  
Autosomal Dominant ◽  
Polycystic Kidney ◽  
Autosomal Dominant Polycystic Kidney

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

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