Difference between revisions of "Cystinosis"

From Libre Pathology
Jump to navigation Jump to search
Line 3: Line 3:
==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/>


==Microscopic==
==Microscopic==

Revision as of 04:12, 10 July 2015

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

General

Microscopic

Kidney

  • Multinucleation of podocytes.[3][4]

Image

Urine

  • Hexagonal shaped crystals.

Bone marrow

  • Histiocytes with (cysteine) crystals.[5]
    • Birefringent with polarized light.

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. 3.0 3.1 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.
  4. 4.0 4.1 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.
  5. 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.