Renal angiomyolipoma in patients with tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increase disease Awareness.
TOSCA
mTOR Inhibitor
registry
renal angiomyolipoma
tuberous sclerosis complex
Journal
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association
ISSN: 1460-2385
Titre abrégé: Nephrol Dial Transplant
Pays: England
ID NLM: 8706402
Informations de publication
Date de publication:
01 03 2019
01 03 2019
Historique:
received:
03
07
2017
accepted:
06
02
2018
pubmed:
27
4
2018
medline:
28
12
2019
entrez:
27
4
2018
Statut:
ppublish
Résumé
Renal angiomyolipoma occurs at a high frequency in patients with tuberous sclerosis complex (TSC) and is associated with potentially life-threatening complications. Despite this frequency and severity, there are no large population-based cohort studies. Here we present baseline and follow-up data of the international TuberOus SClerosis registry to increase disease Awareness (TOSCA) with an aim to provide detailed clinical characteristics of renal angiomyolipoma among patients with TSC. Patients of any age with a documented clinic visit for TSC within 12 months or who were newly diagnosed with TSC before participation in the registry were eligible. Data specific to renal angiomyolipoma included physical tumour characteristics (multiple, bilateral, lesion size and growing lesions), clinical signs and symptoms, and management. The effects of age, gender and genotype on the prevalence of renal angiomyolipoma were also evaluated. Renal angiomyolipoma was reported in 51.8% of patients at baseline, with higher frequency in female patients (57.8% versus 42.2%). The median age at diagnosis was 12 years. Prevalence of angiomyolipoma was higher in patients with TSC2 compared with TSC1 mutations (59.2% versus 33.3%, P < 0.01). Of the 1031 patients with angiomyolipoma at baseline, multiple lesions were reported in 88.4% and bilateral in 83.9% of patients, while the size of angiomyolipoma was >3 cm in 34.3% of patients. Most patients were asymptomatic (82%). Frequently reported angiomyolipoma-related symptoms included bleeding, pain, elevated blood pressure and impaired renal function. Embolization and mammalian target of rapamycin inhibitors were the two most common treatment modalities. The TOSCA registry highlights the burden of renal angiomyolipoma in patients with TSC and shows that renal manifestations are initially asymptomatic and are influenced by gender and genotype. Furthermore, the occurrence of significant problems from angiomyolipoma in a minority of younger patients suggests that surveillance should begin in infancy or at initial diagnosis.
Sections du résumé
BACKGROUND
Renal angiomyolipoma occurs at a high frequency in patients with tuberous sclerosis complex (TSC) and is associated with potentially life-threatening complications. Despite this frequency and severity, there are no large population-based cohort studies. Here we present baseline and follow-up data of the international TuberOus SClerosis registry to increase disease Awareness (TOSCA) with an aim to provide detailed clinical characteristics of renal angiomyolipoma among patients with TSC.
METHODS
Patients of any age with a documented clinic visit for TSC within 12 months or who were newly diagnosed with TSC before participation in the registry were eligible. Data specific to renal angiomyolipoma included physical tumour characteristics (multiple, bilateral, lesion size and growing lesions), clinical signs and symptoms, and management. The effects of age, gender and genotype on the prevalence of renal angiomyolipoma were also evaluated.
RESULTS
Renal angiomyolipoma was reported in 51.8% of patients at baseline, with higher frequency in female patients (57.8% versus 42.2%). The median age at diagnosis was 12 years. Prevalence of angiomyolipoma was higher in patients with TSC2 compared with TSC1 mutations (59.2% versus 33.3%, P < 0.01). Of the 1031 patients with angiomyolipoma at baseline, multiple lesions were reported in 88.4% and bilateral in 83.9% of patients, while the size of angiomyolipoma was >3 cm in 34.3% of patients. Most patients were asymptomatic (82%). Frequently reported angiomyolipoma-related symptoms included bleeding, pain, elevated blood pressure and impaired renal function. Embolization and mammalian target of rapamycin inhibitors were the two most common treatment modalities.
CONCLUSIONS
The TOSCA registry highlights the burden of renal angiomyolipoma in patients with TSC and shows that renal manifestations are initially asymptomatic and are influenced by gender and genotype. Furthermore, the occurrence of significant problems from angiomyolipoma in a minority of younger patients suggests that surveillance should begin in infancy or at initial diagnosis.
Identifiants
pubmed: 29697822
pii: 4985746
doi: 10.1093/ndt/gfy063
pmc: PMC6399480
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
502-508Informations de copyright
© The Author(s) 2018. Published by Oxford University Press on behalf of ERA-EDTA.
Références
Orphanet J Rare Dis. 2017 Jan 5;12(1):2
pubmed: 28057044
Eur Urol. 2016 Jul;70(1):85-90
pubmed: 26873836
Nephron. 2016;134(2):51-58
pubmed: 27504842
Kidney Int. 2006 Nov;70(10):1777-82
pubmed: 17003820
PLoS One. 2013 May 17;8(5):e63910
pubmed: 23691114
Ann N Y Acad Sci. 1991;615:375-7
pubmed: 2039164
Mayo Clin Proc. 1991 Aug;66(8):792-6
pubmed: 1861550
Lancet Neurol. 2015 Jul;14(7):733-45
pubmed: 26067126
J Urol. 1998 Jul;160(1):141-5
pubmed: 9628635
Pediatr Neurol. 2015 Jan;52(1):25-35
pubmed: 25532776
J Child Neurol. 2000 Oct;15(10):652-9
pubmed: 11063078
N Engl J Med. 2006 Sep 28;355(13):1345-56
pubmed: 17005952
Am J Kidney Dis. 2015 Oct;66(4):638-45
pubmed: 26165440
J Paediatr Child Health. 2011 Oct;47(10):711-6
pubmed: 21449900
Urology. 2008 Nov;72(5):1077-82
pubmed: 18805573
Urology. 2016 Sep;95:80-7
pubmed: 27132503
Pediatr Neurol. 2015 Jan;52(1):16-24
pubmed: 25499093
BJU Int. 2004 Oct;94(6):853-7
pubmed: 15476522
JAMA. 2013 Nov 27;310(20):2191-4
pubmed: 24141714
Am J Hum Genet. 2001 Jan;68(1):64-80
pubmed: 11112665
Br J Urol. 1994 Aug;74(2):151-4
pubmed: 7921930
Eur Urol. 2011 Oct;60(4):615-21
pubmed: 21741761
Int Dig Health Legis. 1997;48(2):231-4
pubmed: 11656783
Lancet. 2013 Mar 9;381(9869):817-24
pubmed: 23312829
Am J Surg Pathol. 2014 Jul;38(7):895-909
pubmed: 24832166
Orphanet J Rare Dis. 2014 Nov 26;9:182
pubmed: 25424195
Radiology. 2002 Nov;225(2):451-6
pubmed: 12409579
Nephron Exp Nephrol. 2011;118(1):e15-20
pubmed: 21071977
Pediatr Neurol. 2013 Oct;49(4):255-65
pubmed: 24053983