Renal Neoplasia in Polycystic Kidney Disease: An Assessment of Tuberous Sclerosis Complex–associated Renal Neoplasia and PKD1/TSC2 Contiguous Gene Deletion Syndrome

2021 ◽  
Author(s):  
Sounak Gupta ◽  
Christine M. Lohse ◽  
Ross Rowsey ◽  
Michael R. McCarthy ◽  
Wei Shen ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Tuberous Sclerosis ◽  
Polycystic Kidney Disease ◽  
Tuberous Sclerosis Complex ◽  
Gene Deletion ◽  
Deletion Syndrome ◽  
Polycystic Kidney ◽  
Contiguous Gene ◽  
Contiguous Gene Deletion Syndrome ◽  
Renal Neoplasia

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 Tuberous Sclerosis Complex with an Unruptured Intracranial Aneurysm: Manifestations of Contiguous Gene Syndrome

2001 ◽  
Vol 7 (4) ◽  
pp. 337-341 ◽  
Author(s):  
Y.L. Chen ◽  
C.B. Luo ◽  
S.W. Hsu ◽  
G. Rodesch ◽  
P. Lasjaunias
Keyword(s):  
Kidney Disease ◽  
General Population ◽  
Tuberous Sclerosis ◽  
Polycystic Kidney Disease ◽  
Tuberous Sclerosis Complex ◽  
Intracranial Aneurysms ◽  
Autosomal Dominant ◽  
Polycystic Kidney ◽  
Adult Polycystic Kidney Disease ◽  
Contiguous Gene

With the advancement of molecular genetics, the deletion of the TSC2/PKD1 gene at chromosome 16p13.3 has been discovered to be responsible for the tuberous sclerosis complex sharing some of the clinical manifestations of autosomal dominant adult polycystic kidney disease such as multiple renal cysts and intracranial aneurysms. The unruptured aneurysm in tuberous sclerosis complex is far beyond the meaning it has in general population. The risk of aneurysmal hemorrhage in tuberous sclerosis complex may be higher than that in autosomal dominant adult polycystic kidney disease due to the synergistic effect of gene deletion and certainly much higher than that in the general population. For such high-risk patients with intracranial aneurysms doomed to subarachnoid hemorrhage, magnetic resonance angiography plays an important role in screening and follow-up, especially more critically for patients with contiguous gene syndrome. Endovascular coil embolization should be the first choice of treatment for unruptured intracranial aneurysms.

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 Endovascular treatment of intrarenal aneurysms bleeding and angiomyolipomas in a patient with tuberous sclerosis and polycystic kidney disease

2021 ◽  
Author(s):  
Túlio Leite ◽  
Lucas Vatanabe Pazinato ◽  
Maria Juliana de Aquino Vidal ◽  
Danielo de Freitas ◽  
Joaquim Mauricio da Motta Leal Filho
Keyword(s):  
Kidney Disease ◽  
Tuberous Sclerosis ◽  
Polycystic Kidney Disease ◽  
Endovascular Embolization ◽  
Renal Tumors ◽  
Polycystic Kidney ◽  
Nephron Sparing ◽  
Contiguous Gene ◽  
Life Threatening ◽  
Autosomal Dominant Polycystic Kidney

Abstract Tuberous sclerosis complex (TSC) and autosomal dominant polycystic kidney disease (ADPKD) are conditions related to renal failure that can rarely occur in association as a contiguous gene syndrome. Angiomyolipomas (AMLs) are renal tumors strongly related to TSC that may rupture and cause life-threatening bleedings. We present a patient with TSC, ADPKD, and renal AMLs with persistent hematuria requiring blood transfusion. The persistent hematuria was successfully treated through endovascular embolization, a minimally invasive nephron sparing technique.

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