Kidney non-tumor - Infantile nephropathic cystinosis

Home Chapter Home Jobs Conferences Fellowships Books

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
=========================================================================

● 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
=========================================================================

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

Case reports
=========================================================================

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

Treatment
=========================================================================

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

Micro description
=========================================================================

● 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
=========================================================================

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
=========================================================================

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

This information is intended for physicians and related personnel, who understand that medical information is often imperfect, and must be interpreted in the context of a patient's clinical data using reasonable medical judgment. This website should not be used as a substitute for the advice of a licensed physician.

All information on this website is protected by copyright of PathologyOutlines.com, Inc. Information from third parties may also be protected by copyright. Please contact us at copyrightPathOut@gmail.com with any questions (click here for other contact information).