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.
● 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
● 2 year old girl (Sultan Qaboos Univ Med J 2011;11:503)
● 23 year old man with crystalline histiocytosis post-kidney transplant (Arch Pathol Lab Med 2002;126:1135)
● Kidney transplant (Srp Arh Celok Lek 2011;139:486)
● 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)
Left: interstitial deposition of rectangular refractile cystine crystals; right: multinucleated visceral epithelial cells
Immunohistochemical staining of control and cystinotic renal tissue
Electron microscopy images
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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