Hereditary renal disease
Reviewers: Nikhil Sangle, M.D. (see Reviewers page)
Revised: 6 September 2012, last major update September 2012
Copyright: (c) 2003-2012, PathologyOutlines.com, Inc.
● 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
● 66 year old woman with pigment in dura matter of brain (Arch Pathol Lab Med 2001;125:961)
● Preventive treatment with avoidance of topical phenols and diets low in tyrosine
End of Kidney non-tumor > Hereditary renal disease > Ochronosis
Ref Updated: 6/21/12
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