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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]




  • Multinucleation of podocytes.[6][7]




  • Hexagonal shaped crystals.

Bone marrow


See also


  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.