Renal involvement in tuberous sclerosis complex and von Hippel–Lindau disease: shared disease mechanisms?

2009 ◽  
Vol 5 (3) ◽  
pp. 143-156 ◽  
Author(s):  
Brian J Siroky ◽  
Maria F Czyzyk-Krzeska ◽  
John J Bissler
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Renal Involvement ◽  
Von Hippel Lindau ◽  
Disease Mechanisms ◽  
Von Hippel Lindau Disease

scholarly journals An Update on the Ophthalmologic Features in the Phakomatoses

2016 ◽  
Vol 2016 ◽  
pp. 1-15 ◽  
Author(s):  
Solmaz Abdolrahimzadeh ◽  
Andrea Maria Plateroti ◽  
Santi Maria Recupero ◽  
Alessandro Lambiase
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Neurofibromatosis Type 1 ◽  
Imaging Techniques ◽  
Neurofibromatosis Type ◽  
Treatment Modalities ◽  
Near Infrared Reflectance ◽  
Von Hippel Lindau ◽  
Von Hippel Lindau Disease

Neurofibromatosis type 1, tuberous sclerosis complex, and Von Hippel-Lindau disease, historically classified as the phakomatoses, are hereditary multisystem disorders characterized by the presence of hamartoma, which carry the risk of malignant transformation. The alteration of tumor suppressor genes seems to be at the basis of their pathophysiogenetic mechanism. Lisch and choroidal nodules in neurofibromatosis type 1, retinal astrocytomas in tuberous sclerosis complex, and retinal capillary hemangioma in Von Hippel-Lindau disease are the principal ophthalmic hamartomatous manifestations. The advent of novel imaging techniques such as near infrared reflectance and optical coherence tomography has provided unprecedented insight on the choroidal and retinal features of these diseases. These methods have improved early diagnosis and the ongoing surveillance in these conditions. Among an array of treatment modalities, antivascular endothelial growth factor therapy has been used in the management of retinal hamartomas but results have been varied. This review is an update on the pathophysiogenetic mechanisms, ophthalmic manifestations, and novel treatment strategies in the phakomatoses with emphasis on the role of imaging techniques.

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.

Neurocutaneous syndromes

2011 ◽  
Author(s):  
Robert Grant
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Tuberous Sclerosis ◽  
Autosomal Dominant ◽  
Pancreatic Cysts ◽  
Von Hippel Lindau ◽  
Weber Syndrome ◽  
Von Hippel Lindau Disease ◽  
Sturge Weber Syndrome ◽  
Neurocutaneous Syndromes

This chapter describes several neurocutaneous syndromes, including tuberous sclerosis, neurofibromatosis, Sturge–Weber syndrome, Von-Hippel–Lindau disease and ataxia telangiectasia amongst others.Tuberous sclerosis, also known as Epiloia or Bournville’s Disease, is an autosomal dominant multisystem disease it usually presents in childhood with a characteristic facial rash, adenoma sebaceum, seizures, and sometimes learning difficulties. Central nervous system lesions in tuberous sclerosis are due to a developmental disorder of neurogenesis and neuronal migration. Other organs such as the heart and kidney are less commonly involved. The condition has very variable clinical expression and two-thirds of cases are thought to be new mutations, therefore it is important to examine and screen relatives. Management may involve many specialists and close co-operation between specialists is essential.The neurofibromatoses are autosomal-dominant neurocutaneous disorders that can be divided into ‘peripheral’ and ‘central’ types, although there is significant overlap. The characteristic features of neurofibromatosis type 1 are café au lait spots, neurofibromas, Lisch nodules, osseous lesions, macrocephaly, short stature and mental retardation, axillary freckling, and associations with several different types of tumours.Sturge–Weber syndrome involves a characteristic ‘port-wine’ facial naevus or angioma associated with an underlying leptomeningeal angioma or other vascular anomaly. It affects approximately 1/20 000 people. There can be seizures, low IQ, and underlying cerebral hemisphere atrophy as a result of chronic state of reduced perfusion and increased oxygen extraction. Patients may present with focal seizures which are generally resistant to anticonvulsant medication and can develop glaucoma.Von-Hippel– Lindau disease is one of the most common autosomal-dominant inherited genetic diseases that are associated with familial cancers. Von-Hippel–Lindau disease is characterized by certain types of central nervous system tumours, cerebellar and spinal haemangioblastomas, and retinal angiomas, in conjunction with bilateral renal cysts carcinomas or phaechromocytoma, or pancreatic cysts/islet cell tumours (Neumann and Wiestler 1991).Other neurocutaneous syndromes discussed include Hypomelanosis of Ito, Gorlin syndrome, Sjogren–Larsson syndrome, Proteus syndrome, Hemiatrophy and hemihypertrophy, Menke’s syndrome, Xeroderma pigmentosum and Cockayne’s syndrome.

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

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
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