Tuberous sclerosis natural history, complications and prognosis: Difference between revisions
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__NOTOC__ | __NOTOC__ | ||
{{Tuberous sclerosis}} | {{Tuberous sclerosis}} | ||
{{CMG}} | {{CMG}} {{AE}} {{Jose}} | ||
==Overview== | |||
Tuberous sclerosis is a disease that presents with a wide spectrum of clinical manifestations. With appropriate medical care, most individuals can expect normal life expectancy. | |||
==Natural History== | |||
* Those individuals with mild symptoms generally do well and live long productive lives, while individuals with the more severe form may have serious disabilities. | |||
* However, with appropriate medical care, most individuals with the disorder can look forward to normal life expectancy. | |||
== | ==Complications== | ||
===Natural | * Common complications of tuberous sclerosis include: | ||
* | **[[Blindness]] (due to retinal astrocytic hamartomas);<ref name="pmid31417327">{{cite journal| author=Wan MJ, Chan KL, Jastrzembski BG, Ali A| title=Neuro-ophthalmological manifestations of tuberous sclerosis: current perspectives. | journal=Eye Brain | year= 2019 | volume= 11 | issue= | pages= 13-23 | pmid=31417327 | doi=10.2147/EB.S186306 | pmc=6592065 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=31417327 }}</ref> | ||
* | **[[Internal bleeding]] (due to ruptured [[Angiomyolipoma|angiomyolipomas]]); | ||
**[[Renal-cell carcinomas]];<ref name="pmid170059523">{{cite journal| author=Crino PB, Nathanson KL, Henske EP| title=The tuberous sclerosis complex. | journal=N Engl J Med | year= 2006 | volume= 355 | issue= 13 | pages= 1345-56 | pmid=17005952 | doi=10.1056/NEJMra055323 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17005952 }}</ref><ref name="pmid272262342">{{cite journal| author=Henske EP, Jóźwiak S, Kingswood JC, Sampson JR, Thiele EA| title=Tuberous sclerosis complex. | journal=Nat Rev Dis Primers | year= 2016 | volume= 2 | issue= | pages= 16035 | pmid=27226234 | doi=10.1038/nrdp.2016.35 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=27226234 }}</ref> | |||
**[[Chronic kidney disease]];<ref name="pmid28358266">{{cite journal| author=Song X, Liu Z, Cappell K, Gregory C, Said Q, Prestifilippo J | display-authors=etal| title=Natural history of patients with tuberous sclerosis complex related renal angiomyolipoma. | journal=Curr Med Res Opin | year= 2017 | volume= 33 | issue= 7 | pages= 1277-1282 | pmid=28358266 | doi=10.1080/03007995.2017.1313726 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=28358266 }}</ref> | |||
**[[Lymphangiomyomatosis]]; | |||
** Multifocal micronodular pneumocyte hyperplasia;<ref name="pmid170059523" /> | |||
**[[Epilepsy]], including its more severe form: [[infantile spasms]]; | |||
**[[Obstructive hydrocephalus]] due to [[subependymal]] giant cell [[astrocytomas]]; | |||
**[[Anxiety Disorder|Anxiety]]; | |||
**[[Autism]];<ref name="pmid170059523" /> | |||
**[[Heart failure]] due to intracavitary cardiac [[rhabdomyomas]].<ref name="pmid25424575">{{cite journal| author=Hinton RB, Prakash A, Romp RL, Krueger DA, Knilans TK, International Tuberous Sclerosis Consensus Group| title=Cardiovascular manifestations of tuberous sclerosis complex and summary of the revised diagnostic criteria and surveillance and management recommendations from the International Tuberous Sclerosis Consensus Group. | journal=J Am Heart Assoc | year= 2014 | volume= 3 | issue= 6 | pages= e001493 | pmid=25424575 | doi=10.1161/JAHA.114.001493 | pmc=4338742 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25424575 }}</ref> | |||
== | ==Prognosis== | ||
* | * The prognosis for individuals with TSC depends on the severity of symptoms, which range from mild skin abnormalities to varying degrees of learning disabilities and [[epilepsy]] to severe [[mental retardation]], uncontrollable [[seizures]], and [[kidney failure]]. | ||
==References== | ==References== | ||
Latest revision as of 15:07, 20 July 2020
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: José Eduardo Riceto Loyola Junior, M.D.[2]
Overview
Tuberous sclerosis is a disease that presents with a wide spectrum of clinical manifestations. With appropriate medical care, most individuals can expect normal life expectancy.
Natural History
- Those individuals with mild symptoms generally do well and live long productive lives, while individuals with the more severe form may have serious disabilities.
- However, with appropriate medical care, most individuals with the disorder can look forward to normal life expectancy.
Complications
- Common complications of tuberous sclerosis include:
- Blindness (due to retinal astrocytic hamartomas);[1]
- Internal bleeding (due to ruptured angiomyolipomas);
- Renal-cell carcinomas;[2][3]
- Chronic kidney disease;[4]
- Lymphangiomyomatosis;
- Multifocal micronodular pneumocyte hyperplasia;[2]
- Epilepsy, including its more severe form: infantile spasms;
- Obstructive hydrocephalus due to subependymal giant cell astrocytomas;
- Anxiety;
- Autism;[2]
- Heart failure due to intracavitary cardiac rhabdomyomas.[5]
Prognosis
- The prognosis for individuals with TSC depends on the severity of symptoms, which range from mild skin abnormalities to varying degrees of learning disabilities and epilepsy to severe mental retardation, uncontrollable seizures, and kidney failure.
References
- ↑ Wan MJ, Chan KL, Jastrzembski BG, Ali A (2019). "Neuro-ophthalmological manifestations of tuberous sclerosis: current perspectives". Eye Brain. 11: 13–23. doi:10.2147/EB.S186306. PMC 6592065 Check
|pmc=value (help). PMID 31417327. - ↑ 2.0 2.1 2.2 Crino PB, Nathanson KL, Henske EP (2006). "The tuberous sclerosis complex". N Engl J Med. 355 (13): 1345–56. doi:10.1056/NEJMra055323. PMID 17005952.
- ↑ Henske EP, Jóźwiak S, Kingswood JC, Sampson JR, Thiele EA (2016). "Tuberous sclerosis complex". Nat Rev Dis Primers. 2: 16035. doi:10.1038/nrdp.2016.35. PMID 27226234.
- ↑ Song X, Liu Z, Cappell K, Gregory C, Said Q, Prestifilippo J; et al. (2017). "Natural history of patients with tuberous sclerosis complex related renal angiomyolipoma". Curr Med Res Opin. 33 (7): 1277–1282. doi:10.1080/03007995.2017.1313726. PMID 28358266.
- ↑ Hinton RB, Prakash A, Romp RL, Krueger DA, Knilans TK, International Tuberous Sclerosis Consensus Group (2014). "Cardiovascular manifestations of tuberous sclerosis complex and summary of the revised diagnostic criteria and surveillance and management recommendations from the International Tuberous Sclerosis Consensus Group". J Am Heart Assoc. 3 (6): e001493. doi:10.1161/JAHA.114.001493. PMC 4338742. PMID 25424575.