Two Different Types of Renal Involvement in Tuberous Sclerosis Complex

2001 ◽  
pp. 318-324
Author(s):  
F. Scolari ◽  
B.F. Viola ◽  
L. Grazioli ◽  
L. Longa ◽  
N. Migone ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Renal Involvement ◽  
Different Types

Renal involvement in tuberous sclerosis complex: a retrospective survey

1994 ◽  
Vol 8 (4) ◽  
pp. 451-457 ◽  
Author(s):  
L. B. Zimmerhackl ◽  
M. Rehm ◽  
K. Kaufmehl ◽  
G. Kurlemann ◽  
M. Brandis
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Renal Involvement ◽  
Retrospective Survey

Magnetic resonance imaging of renal involvement in genetically studied patients with tuberous sclerosis complex

2009 ◽  
Vol 72 (2) ◽  
pp. 335-341 ◽  
Author(s):  
Giovanni Pompili ◽  
Salvatore Zirpoli ◽  
Chiara Sala ◽  
Nicola Flor ◽  
Rosa Maria Alfano ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Renal Involvement ◽  
Resonance Imaging

318 Real-world assessment of renal involvement in tuberous sclerosis complex (TSC) patients in the United Kingdom (UK)

2014 ◽  
Vol 13 (1) ◽  
pp. e318-e318a ◽  
Author(s):  
J.C. Kingswood ◽  
D. Demuth ◽  
P. Nasuti ◽  
L. Lucchese ◽  
E. Gray ◽  
...  
Keyword(s):  
United Kingdom ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Real World ◽  
Renal Involvement ◽  
The United Kingdom

scholarly journals Blood Pressure and Glomerular Filtration Rate in Youth With Tuberous Sclerosis Complex

2021 ◽  
Author(s):  
Efthymia Vargiami ◽  
Stella Stabouli ◽  
Christina Sidira ◽  
Maria Kyriazi ◽  
Athanasia Anastasiou ◽  
...  
Keyword(s):  
Blood Pressure ◽  
Glomerular Filtration Rate ◽  
Glomerular Filtration ◽  
Tuberous Sclerosis ◽  
Kidney Function ◽  
Tuberous Sclerosis Complex ◽  
Filtration Rate ◽  
Renal Involvement ◽  
Childhood And Adolescence ◽  
Renal Imaging

Abstract Background Renal involvement is very common in tuberous sclerosis complex (TSC) and is characterised by the development of angiomyolipoma and cysts. The aims of the present study were to assess kidney function and clinical features of renal involvement in TSC, including kidney function, and blood pressure (BP) levels in children, adolescents and young adults. Methods Non-selected patients with a definite diagnosis of TSC attending the paediatric neurology outpatient department of a tertiary hospital were included in a cross-sectional study. All participants had a renal imaging study within 6 months of ambulatory blood pressure (BP) and glomerular filtration rate (GFR) assessment. Data on demographics, history, genotype, kidney function at diagnosis and last imaging were collected. Results The median age of the patients was 15 years (IQR range 9 to18). 23.5% of the participants had ambulatory BP hypertension. Systolic BP levels correlated significantly with GFRDTPA values despite the absence of hyperfiltration. Greater increase in GFR from initial TSC diagnosis till the age of the assessment, resulted in higher GFR levels in childhood and adolescence in those that developed hypertension and possibly in those with angiomyolipoma or cysts. All patients with ambulatory BP hypertension had angiomyolipomas or cysts on renal imaging studies. Conclusions Hypertension may present with increased frequency in young patients with kidney disease associated with TSC. Routine ambulatory BP measurement could be part of the annual clinical assessment in patients with TSC.

scholarly journals Recommendations for the management of renal involvement in tuberous sclerosis complex

2020 ◽  
Vol 40 (2) ◽  
pp. 142-151
Author(s):  
Gema Ariceta ◽  
María José Buj ◽  
Mónica Furlano ◽  
Víctor Martínez ◽  
Anna Matamala ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Renal Involvement

scholarly journals MRI findings reveal three different types of tubers in patients with tuberous sclerosis complex

2010 ◽  
Vol 257 (8) ◽  
pp. 1373-1381 ◽  
Author(s):  
Anne Gallagher ◽  
Ellen P. Grant ◽  
Neel Madan ◽  
Delma Y. Jarrett ◽  
David A. Lyczkowski ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Mri Findings ◽  
Different Types

Renal involvement in tuberous sclerosis complex with emphasis on cystic lesions

2015 ◽  
Vol 121 (5) ◽  
pp. 402-408 ◽  
Author(s):  
Arthur Robert ◽  
Valerie Leroy ◽  
Audrey Riquet ◽  
Lucile Gogneaux ◽  
Nathalie Boutry ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Renal Involvement ◽  
Cystic Lesions

scholarly journals The role of glia in epilepsy, intellectual disability, and other neurodevelopmental disorders in tuberous sclerosis complex

2019 ◽  
Vol 11 (1) ◽  
Author(s):  
Michael Wong
Keyword(s):  
Intellectual Disability ◽  
Tuberous Sclerosis ◽  
Glial Cells ◽  
Tuberous Sclerosis Complex ◽  
Genetic Disorder ◽  
Main Body ◽  
Neurological Manifestations ◽  
Molecular Abnormalities ◽  
Different Types

Abstract Background Tuberous sclerosis complex (TSC) is a genetic disorder characterized by severe neurological manifestations, including epilepsy, intellectual disability, autism, and a range of other behavioral and psychiatric symptoms, collectively referred to as TSC-associated neuropsychiatric disorders (TAND). Various tumors and hamartomas affecting different organs are the pathological hallmarks of the disease, especially cortical tubers of the brain, but specific cellular and molecular abnormalities, such as involving the mechanistic target of rapamycin (mTOR) pathway, have been identified that also cause or contribute to neurological manifestations of TSC independent of gross structural lesions. In particular, while neurons are immediate mediators of neurological symptoms, different types of glial cells have been increasingly recognized to play important roles in the phenotypes of TSC. Main body This review summarizes the literature supporting glial dysfunction from both mouse models and clinical studies of TSC. In particular, evidence for the role of astrocytes, microglia, and oligodendrocytes in the pathophysiology of epilepsy and TAND in TSC is analyzed. Therapeutic implications of targeting glia cells in developing novel treatments for the neurological manifestations of TSC are also considered. Conclusions Different types of glial cells have both cell autonomous effects and interactions with neurons and other cells that are involved in the pathophysiology of the neurological phenotype of TSC. Targeting glial-mediated mechanisms may represent a novel therapeutic approach for epilepsy and TAND in TSC patients.

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