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Kidney non-tumor

Hereditary renal disease

Infantile nephropathic cystinosis


Reviewers: Nikhil Sangle, M.D. (see Reviewers page)
Revised: 29 August 2012, last major update August 2012
Copyright: (c) 2003-2012, PathologyOutlines.com, Inc.

General
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● Autosomal recessive lysosomal storage disease causing corneal and kidney disease (Nephron 2001;89:50)
● Presents at 3–6 months with Fanconi’s syndrome (OMIM #219800)
● May progress to renal failure

Case reports
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● 2 year old girl (Sultan Qaboos Univ Med J 2011;11:503)

Case reports
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● 23 year old man with crystalline histiocytosis post-kidney transplant (Arch Pathol Lab Med 2002;126:1135)

Treatment
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● Kidney transplant (Srp Arh Celok Lek 2011;139:486)

Micro description
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● In renal allograft, dark cells are present in interstitium, rarely glomeruli or tubular lumina; darkness due to granular material in cytoplasm and nucleus and cytoplasmic inclusions of macrophages (Hum Pathol 1989;20:472)

Micro images
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Various images

   
Left: interstitial deposition of rectangular refractile cystine crystals; right: multinucleated visceral epithelial cells


Immunohistochemical staining of control and cystinotic renal tissue

Electron microscopy images
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Prominent inclusions


Alterations in distal tubules, effacement of foot processes

End of Kidney non-tumor > Hereditary renal disease > Infantile nephropathic cystinosis

Ref Updated: 6/14/12


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