Difference between revisions of "Cystinosis"

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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 [[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]]
*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==
Line 10: Line 42:
*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>
Line 19: Line 71:
===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. 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. 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. 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.