Difference between revisions of "Cystinosis"

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{{ Infobox diagnosis
{{ Infobox diagnosis
| Name      = {{PAGENAME}}
| Name      = {{PAGENAME}}
| Image      =  
| Image      = Cystinosis_-_kidney_-_alt_--_high_mag.jpg
| Width      =
| Width      =
| Caption    =  
| Caption    = Changes of cystinosis in the [[kidney]]. [[H&E stain]].
| Synonyms  =
| Synonyms  =
| Micro      = dependent on site, kidney: multinucleation of podocytes, bone marrow: histiocytes with (cysteine) crystals
| Micro      = dependent on site, kidney: multinucleation of podocytes, bone marrow: histiocytes with (cysteine) crystals
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| Gross      =
| Gross      =
| Grossing  =
| Grossing  =
| Site      = [[kidney]]
| Site      = [[kidney]], [[bone marrow]], others
| Assdx      = [[nephrolithiasis]], [[chronic renal failure]]
| Assdx      = [[nephrolithiasis]], [[chronic renal failure]]
| Syndromes  =
| Syndromes  =
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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====

Latest revision as of 00:49, 24 April 2016

Cystinosis
Diagnosis in short

Changes of cystinosis in the kidney. H&E stain.

LM dependent on site, kidney: multinucleation of podocytes, bone marrow: histiocytes with (cysteine) crystals
Molecular cystinosin gene mutation
Site kidney, bone marrow, others

Associated Dx nephrolithiasis, chronic renal failure
Clinical history +/-consanguinity
Prevalence rare
Other hexagonal shaped crystals in urine

Cystinosis is a lysosomal storage disease and very rare.[1]

General

Microscopic

Kidney

  • Multinucleation of podocytes.[6][7]

Images

Case
www

Urine

  • Hexagonal shaped crystals.

Bone marrow

Images

See also

References

  1. Jump up to: 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. Theodoropoulos, DS.; Shawker, TH.; Heinrichs, C.; Gahl, WA. (Aug 1995). "Medullary nephrocalcinosis in nephropathic cystinosis.". Pediatr Nephrol 9 (4): 412-8. PMID 7577398.
  3. Online 'Mendelian Inheritance in Man' (OMIM) 606272
  4. Online 'Mendelian Inheritance in Man' (OMIM) 219800
  5. Online 'Mendelian Inheritance in Man' (OMIM) 219900
  6. Jump up to: 6.0 6.1 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.
  7. Jump up to: 7.0 7.1 Chandra, M.; Stokes, MB.; Kaskel, F. (Nov 2010). "Multinucleated podocytes: a diagnostic clue to cystinosis.". Kidney Int 78 (10): 1052. doi:10.1038/ki.2010.341. PMID 21030980.
  8. Emadi, A.; Burns, KH.; Confer, B.; Borowitz, MJ.; Streiff, MB. (2008). "Hematological manifestations of nephropathic cystinosis.". Acta Haematol 119 (3): 169-72. doi:10.1159/000134222. PMID 18493119.