Difference between revisions of "Cystinosis"
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====Image==== | ====Image==== | ||
*[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> | |||
===Urine=== | ===Urine=== | ||
*Hexagonal shaped crystals. | *Hexagonal shaped crystals. | ||
=== | ===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> | ||
</ref> | **Birefringent with polarized light. | ||
====Images==== | |||
*[http://www.pathpedia.com/education/eatlas/histopathology/bone_marrow/bone_marrow_cystinosis.aspx Bone marrow cystinosis (pathpedia.com)]. | *[http://www.pathpedia.com/education/eatlas/histopathology/bone_marrow/bone_marrow_cystinosis.aspx Bone marrow cystinosis (pathpedia.com)]. | ||
Revision as of 22:49, 18 June 2015
Cystinosis is a lysosomal storage disease and very rare.[1]
General
- Rare.
- Associated with renal failure.
- Autosomal recessive.[1]
Microscopic
Kidney
Image
Urine
- Hexagonal shaped crystals.
Bone marrow
- Histiocytes with (cysteine) crystals.[4]
- Birefringent with polarized light.
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.
- ↑ 3.0 3.1 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.
- ↑ 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.