Difference between revisions of "Cystinosis"
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{{ Infobox diagnosis | |||
| Name = {{PAGENAME}} | |||
| Image = | |||
| Width = | |||
| Caption = | |||
| 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]] | |||
| 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> | ||
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*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== | ||
Revision as of 02:01, 11 July 2015
| Cystinosis | |
|---|---|
| Diagnosis in short | |
|
| |
| LM | dependent on site, kidney: multinucleation of podocytes, bone marrow: histiocytes with (cysteine) crystals |
| Molecular | cystinosin gene mutation |
| Site | kidney |
|
| |
| 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
- Rare.
- Associated with nephrolithiasis (renal stones)[2] and renal failure.
- Autosomal recessive.[1]
- Mutation in cystinosin gene (CTNS).[3][4][5]
Microscopic
Kidney
Image
Urine
- Hexagonal shaped crystals.
Bone marrow
- Histiocytes with (cysteine) crystals.[8]
- 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.
- ↑ Online 'Mendelian Inheritance in Man' (OMIM) 606272
- ↑ Online 'Mendelian Inheritance in Man' (OMIM) 219800
- ↑ Online 'Mendelian Inheritance in Man' (OMIM) 219900
- ↑ 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.
- ↑ 7.0 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.
- ↑ 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.