Lesch-Nyhan syndrome natural history: Difference between revisions
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{{Lesch-Nyhan syndrome}} | {{Lesch-Nyhan syndrome}} | ||
{{CMG}}; {{AE}} {{AN}} | {{CMG}}; {{AE}} {{AN}} | ||
==Overview== | |||
==Natural History== | ==Natural History== | ||
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*Severe, progressive disability if likely. | *Severe, progressive disability if likely. | ||
*[[Spasticity]] | *[[Spasticity]] | ||
*[[Dystonia]] | |||
*[[Choreoathetosis]] | |||
*[[Ophisthotonus]] | |||
*[[Nephrolithiasis]] | *[[Nephrolithiasis]] | ||
*[[Urinary tract infection]] | *[[Urinary tract infection]] | ||
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*[[Scoliosis]] | *[[Scoliosis]] | ||
*[[Fractures]] | *[[Fractures]] | ||
*[[Atlanto-axial subluxation]] | *[[Atlanto-axial joint]] [[subluxation]]<ref name="pmid20301328">{{cite journal |author=Pagon RA, Bird TD, Dolan CR, ''et al.'' |title= |journal=[[]] |volume= |issue= |pages= |year= |pmid=20301328 |doi= |url=}}</ref> | ||
==Prognosis== | ==Prognosis== | ||
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==References== | ==References== | ||
{{reflist|2}} | {{reflist|2}} | ||
[[Category:Pediatrics]] | |||
[[Category:Endocrinology]] | |||
{{WH}} | {{WH}} | ||
{{WS}} | {{WS}} | ||
Latest revision as of 19:10, 26 July 2016
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Aarti Narayan, M.B.B.S [2]
Overview
Natural History
- Patients with HGPRT deficiency are normal at birth.
- One of the first signs of the disease may be the observation of orange crystals in the diapers, or crystalluria with obstruction of the urinary tract.
- Other uncommon forms of presentation include renal failure or acidosis with repeated vomiting. Psychomotor delay, when present, becomes evident within 3 to 6 months.
- A delay in the acquisition of sitting and head support with hypotonia and athetoid movements may lead to neurological consultation. Self-mutilation, in the form of lip biting or finger chewing, can appear as soon as teeth are present.
- Eventually, as uric acid builds up in tissues, symptoms of spasticity, seizures, nephrolithiasis and self mutilation develop.
Complications
- Severe, progressive disability if likely.
- Spasticity
- Dystonia
- Choreoathetosis
- Ophisthotonus
- Nephrolithiasis
- Urinary tract infection
- Gouty arthritis
- Skin and soft tissue infections
- Hip dysplasia and subluxation
- Pneumonia
- Scoliosis
- Fractures
- Atlanto-axial joint subluxation[1]
Prognosis
The prognosis for individuals with LNS is poor. Death is usually due to renal failure in the first or second decade of life.