Difference between revisions of "Cystinosis"

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Cystinosis (view source)

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{{ Infobox diagnosis
| Name      = {{PAGENAME}}
| Image      = Cystinosis_-_kidney_-_alt_--_high_mag.jpg
| Width      =
| Caption    = Changes of cystinosis in the [[kidney]]. [[H&E stain]].
| Synonyms  =
| Micro      = dependent on site, kidney: multinucleation of podocytes, bone marrow: histiocytes with (cysteine) crystals
| Subtypes  =
| LMDDx      =
| Stains    =
| IHC        =
| EM        =
| Molecular  = cystinosin gene mutation
| IF        =
| Gross      =
| Grossing  =
| Site      = [[kidney]], [[bone marrow]], others
| Assdx      = [[nephrolithiasis]], [[chronic renal failure]]
| Syndromes  =
| Clinicalhx = +/-consanguinity
| Signs      =
| Symptoms  =
| Prevalence = rare
| Bloodwork  =
| Rads      =
| Endoscopy  =
| Prognosis  =
| Other      = hexagonal shaped [[urine crystals|crystals in urine]]
| ClinDDx    =
| Tx        =
}}
'''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>
'''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 [[nephrolithiasis]] (renal stones)<ref name=pmid7577398>{{Cite journal  | last1 = Theodoropoulos | first1 = DS. | last2 = Shawker | first2 = TH. | last3 = Heinrichs | first3 = C. | last4 = Gahl | first4 = WA. | title = Medullary nephrocalcinosis in nephropathic cystinosis. | journal = Pediatr Nephrol | volume = 9 | issue = 4 | pages = 412-8 | month = Aug | year = 1995 | doi =  | PMID = 7577398 }}</ref> and [[renal failure]].
*Autosomal recessive.<ref name=pmid25560059/>  
*Autosomal recessive.<ref name=pmid25560059/>
*Mutation in cystinosin gene (CTNS).<ref>{{OMIM|606272}}</ref><ref>{{OMIM|219800}}</ref><ref>{{OMIM|219900}}</ref>


==Microscopic==
==Microscopic==
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*Multinucleation of podocytes.<ref name=pmid21769177/><ref name=pmid21030980>{{Cite journal  | last1 = Chandra | first1 = M. | last2 = Stokes | first2 = MB. | last3 = Kaskel | first3 = F. | title = Multinucleated podocytes: a diagnostic clue to cystinosis. | journal = Kidney Int | volume = 78 | issue = 10 | pages = 1052 | month = Nov | year = 2010 | doi = 10.1038/ki.2010.341 | PMID = 21030980 }}</ref>
*Multinucleation of podocytes.<ref name=pmid21769177/><ref name=pmid21030980>{{Cite journal  | last1 = Chandra | first1 = M. | last2 = Stokes | first2 = MB. | last3 = Kaskel | first3 = F. | title = Multinucleated podocytes: a diagnostic clue to cystinosis. | journal = Kidney Int | volume = 78 | issue = 10 | pages = 1052 | month = Nov | year = 2010 | doi = 10.1038/ki.2010.341 | PMID = 21030980 }}</ref>


====Image====
====Images====
=====Case=====
<gallery>
Image: Cystinosis - kidney -- intermed mag.jpg | Cystinosis - intermed. mag.
Image: Cystinosis - kidney -- high mag.jpg | Cystinosis - high mag.
Image: Cystinosis - kidney - alt -- high mag.jpg | Cystinosis - high mag.
Image: Cystinosis - kidney -- very high mag.jpg | Cystinosis - very high mag.
Image: Cystinosis - kidney - alt -- very high mag.jpg | Cystinosis - very high mag.
</gallery>
 
<gallery>
Image: Cystinosis - kidney - 2 -- high mag.jpg | Cystinosis - high mag.
Image: Cystinosis - kidney - 2 -- very high mag.jpg | Cystinosis - very high mag.
</gallery>
 
<gallery>
Image: Cystinosis - kidney - 3 -- intermed mag.jpg | Cystinosis - intermed. mag.
Image: Cystinosis - kidney - 3 -- high mag.jpg | Cystinosis - high mag.
Image: Cystinosis - kidney - 3 -- very high mag.jpg | Cystinosis - very high mag.
</gallery>
=====www=====
*[http://www.nature.com/ki/journal/v78/n10/fig_tab/ki2010341f1.html Multinucleated podocytes (nature.com)].<ref name=pmid21030980/>
*[http://www.nature.com/ki/journal/v78/n10/fig_tab/ki2010341f1.html Multinucleated podocytes (nature.com)].<ref name=pmid21030980/>
*[http://medind.nic.in/iav/t11/i2/IndianJNephrol_2011_21_2_123_78067_f1.jpg Cystinosis (medind.nic.in)].<ref name=pmid21769177>{{Cite journal  | last1 = Sharma | first1 = A. | last2 = Gupta | first2 = R. | last3 = Sethi | first3 = SK. | last4 = Bagga | first4 = A. | last5 = Dinda | first5 = AK. | title = Giant cell transformation of podocytes: A unique histological feature associated with cystinosis. | journal = Indian J Nephrol | volume = 21 | issue = 2 | pages = 123-5 | month = Apr | year = 2011 | doi = 10.4103/0971-4065.78067 | PMID = 21769177 }}</ref>
*[http://medind.nic.in/iav/t11/i2/IndianJNephrol_2011_21_2_123_78067_f1.jpg Cystinosis (medind.nic.in)].<ref name=pmid21769177>{{Cite journal  | last1 = Sharma | first1 = A. | last2 = Gupta | first2 = R. | last3 = Sethi | first3 = SK. | last4 = Bagga | first4 = A. | last5 = Dinda | first5 = AK. | title = Giant cell transformation of podocytes: A unique histological feature associated with cystinosis. | journal = Indian J Nephrol | volume = 21 | issue = 2 | pages = 123-5 | month = Apr | year = 2011 | doi = 10.4103/0971-4065.78067 | PMID = 21769177 }}</ref>
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===Bone marrow===
===Bone marrow===
*Histiocytes with (cysteine) crystals.<ref name=pmid18493119>{{Cite journal  | last1 = Emadi | first1 = A. | last2 = Burns | first2 = KH. | last3 = Confer | first3 = B. | last4 = Borowitz | first4 = MJ. | last5 = Streiff | first5 = MB. | title = Hematological manifestations of nephropathic cystinosis. | journal = Acta Haematol | volume = 119 | issue = 3 | pages = 169-72 | month =  | year = 2008 | doi = 10.1159/000134222 | PMID = 18493119 }}</ref>
*Histiocytes with (cysteine) crystals.<ref name=pmid18493119>{{Cite journal  | last1 = Emadi | first1 = A. | last2 = Burns | first2 = KH. | last3 = Confer | first3 = B. | last4 = Borowitz | first4 = MJ. | last5 = Streiff | first5 = MB. | title = Hematological manifestations of nephropathic cystinosis. | journal = Acta Haematol | volume = 119 | issue = 3 | pages = 169-72 | month =  | year = 2008 | doi = 10.1159/000134222 | PMID = 18493119 }}</ref>
**Birefringent with polarized light.
**Birefringent with [[polarized light]].


====Images====
====Images====
Michael
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