Difference between revisions of "Cystinosis"
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'''Cystinosis''' is a [[lysosomal storage disease]] and very rare. | '''Cystinosis''' is a [[lysosomal storage disease]] and very rare.<ref name=pmid25560059>{{Cite journal | last1 = Veys | first1 = KR. | last2 = Besouw | first2 = MT. | last3 = Pinxten | first3 = AM. | last4 = Dyck | first4 = MV. | last5 = Casteels | first5 = I. | last6 = Levtchenko | first6 = EN. | title = Cystinosis: a new perspective. | journal = Acta Clin Belg | volume = | issue = | pages = 2295333714Y0000000113 | month = Jan | year = 2015 | doi = 10.1179/2295333714Y.0000000113 | PMID = 25560059 }}</ref> | ||
==General== | ==General== | ||
*Rare. | *Rare. | ||
*Associated with [[renal failure]]. | *Associated with [[renal failure]]. | ||
*Autosomal recessive.<ref name=pmid25560059/> | |||
==Microscopic== | |||
===Kidney=== | |||
*Giant cell transformation of podocytes.<ref name=pmid21769177/> | |||
===Urine=== | |||
*Hexagonal shaped crystals. | |||
===Images=== | ===Images=== | ||
Revision as of 21:11, 6 April 2015
Cystinosis is a lysosomal storage disease and very rare.[1]
General
- Rare.
- Associated with renal failure.
- Autosomal recessive.[1]
Microscopic
Kidney
- Giant cell transformation of podocytes.[2]
Urine
- Hexagonal shaped crystals.
Images
See also
References
- ↑ 1.0 1.1 Veys, KR.; Besouw, MT.; Pinxten, AM.; Dyck, MV.; Casteels, I.; Levtchenko, EN. (Jan 2015). "Cystinosis: a new perspective.". Acta Clin Belg: 2295333714Y0000000113. doi:10.1179/2295333714Y.0000000113. PMID 25560059.
- ↑ 2.0 2.1 Sharma, A.; Gupta, R.; Sethi, SK.; Bagga, A.; Dinda, AK. (Apr 2011). "Giant cell transformation of podocytes: A unique histological feature associated with cystinosis.". Indian J Nephrol 21 (2): 123-5. doi:10.4103/0971-4065.78067. PMID 21769177.