Kidney nontumor
Hereditary renal disease
Ochronosis

Author: Nikhil Sangle, M.D. (see Authors page)

Revised: 6 February 2018, last major update September 2012

Copyright: (c) 2002-2018, PathologyOutlines.com, Inc.

PubMed Search: Ochronosis [title] kidney

Cite this page: Sangle, N. Ochronosis. PathologyOutlines.com website. http://www.pathologyoutlines.com/topic/kidneyochronosis.html. Accessed February 19th, 2018.
Definition / general
  • Autosomal recessive disorder of increased urinary excretion of homogentisic acid (alkaptonuria), with deposition of "ochre colored" (yellow) pigment in collagen rich regions
  • Occurs in 50% with alkaptonuria
  • Due to disorder of homogentisic acid oxidase gene on chromosome 3q, an intermediate component in metabolism of tyrosine and phenylalanine, causing accumulation of benzoquinone acetic acid, which binds to collagen irreversibly
  • Clinically black pigmentation of joints (arthritis with pigment deposition in cartilage and intervertebral disks), cardiovascular system (valvular calcifications and stenosis), kidney (black urine, pigmented stones) and skin (cutaneous pigmentation); also involvement of sclera of eye
  • No effective treatment
Case reports
Treatment
  • Preventive treatment with avoidance of topical phenols and diets low in tyrosine
Microscopic (histologic) images

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Alkaptonuria ochronosis