scholarly journals Tuberous sclerosis, polycystic kidney disease and mucolipidosis III gamma caused by a microdeletion unmasking a recessive mutation

2015 ◽  
Vol 167 (11) ◽  
pp. 2844-2846 ◽  
Author(s):  
Jaime J. Barea ◽  
Eline van Meel ◽  
Stuart Kornfeld ◽  
Lynne M. Bird
Keyword(s):  
Kidney Disease ◽  
Tuberous Sclerosis ◽  
Polycystic Kidney Disease ◽  
Recessive Mutation ◽  
Polycystic Kidney

scholarly journals Diagnosis of tuberous sclerosis in a patient who presented with polycystic kidney disease

2000 ◽  
Vol 15 (4) ◽  
pp. 547-548 ◽  
Author(s):  
Charles J. Diskin ◽  
Thomas J. Stokes ◽  
Linda M. Dansby ◽  
Thomas B. Carter ◽  
Lautrec Radcliff ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Tuberous Sclerosis ◽  
Polycystic Kidney Disease ◽  
Polycystic Kidney

Tuberous sclerosis and polycystic kidney disease in a 3-month-old infant

2004 ◽  
Vol 19 (6) ◽  
pp. 602-608 ◽  
Author(s):  
Martin W. Laass ◽  
Miriam Spiegel ◽  
Anna Jauch ◽  
Gabriele Hahn ◽  
Edgar Rupprecht ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Tuberous Sclerosis ◽  
Polycystic Kidney Disease ◽  
Polycystic Kidney

scholarly journals Tuberous sclerosis complex and polycystic kidney disease together: An exception to the contiguous gene syndrome

2006 ◽  
Vol 8 (3) ◽  
pp. 197-198 ◽  
Author(s):  
Audrey C Woerner ◽  
Kit-Sing Au ◽  
Aimee T Williams ◽  
Peter C Harris ◽  
Hope Northrup
Keyword(s):  
Kidney Disease ◽  
Tuberous Sclerosis ◽  
Polycystic Kidney Disease ◽  
Tuberous Sclerosis Complex ◽  
Polycystic Kidney ◽  
Contiguous Gene

scholarly journals Polycystic kidney disease and chronic renal failure in tuberous sclerosis

2013 ◽  
Vol 2013 (oct02 1) ◽  
pp. bcr2013200711-bcr2013200711 ◽  
Author(s):  
M. Dhakal ◽  
O. P. Dhakal ◽  
D. Bhandari
Keyword(s):  
Renal Failure ◽  
Chronic Renal Failure ◽  
Kidney Disease ◽  
Tuberous Sclerosis ◽  
Polycystic Kidney Disease ◽  
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

scholarly journals Polycystic Kidney Disease as a Result of Loss of the Tuberous Sclerosis 2 Tumor Suppressor Gene During Development

2003 ◽  
Vol 162 (2) ◽  
pp. 457-468 ◽  
Author(s):  
Shengli Cai ◽  
Jeffrey I. Everitt ◽  
Hiroyuki Kugo ◽  
Jennifer Cook ◽  
Elena Kleymenova ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Tumor Suppressor ◽  
Tuberous Sclerosis ◽  
Tumor Suppressor Gene ◽  
Polycystic Kidney Disease ◽  
Suppressor Gene ◽  
Polycystic Kidney
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