Difference between revisions of "Cystinosis"
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==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
- Rare.
- Associated with nephrolithiasis (renal stones)[2] and renal failure
- Autosomal recessive.[1]
Microscopic
Kidney
Image
Urine
- Hexagonal shaped crystals.
Bone marrow
- Histiocytes with (cysteine) crystals.[5]
- 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.
- ↑ Theodoropoulos, DS.; Shawker, TH.; Heinrichs, C.; Gahl, WA. (Aug 1995). "Medullary nephrocalcinosis in nephropathic cystinosis.". Pediatr Nephrol 9 (4): 412-8. PMID 7577398.
- ↑ 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.
- ↑ 4.0 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.
- ↑ 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.