Exacerbation of the ochronosis of alkaptonuria due to renal insufficiency and improvement after renal transplantation
- PMID: 12359141
- DOI: 10.1016/s1096-7192(02)00121-x
Exacerbation of the ochronosis of alkaptonuria due to renal insufficiency and improvement after renal transplantation
Abstract
In alkaptonuria, homogentisate 1,2-dioxygenase deficiency causes tissue accumulation of homogentisic acid (HGA), followed by signs and symptoms of ochronosis. These include massive urinary excretion of HGA, arthritis and joint destruction, pigmentation of cartilage and connective tissue, and cardiac valve deterioration. We describe a 46-year-old man with alkaptonuria and diabetic renal failure whose plasma HGA concentration was twice that of any other alkaptonuria patient, and whose ochronosis progressed much more rapidly than that of his two alkaptonuric siblings. After renal transplantation, the plasma HGA normalized, and the daily urinary excretion of HGA decreased by 2-3g. This case illustrates the critical role of renal tubular secretion in eliminating HGA from the body, and suggests that renal transplantation in a uremic patient not only restores HGA excretion, but may also provide homogentisate 1,2-dioxygenase activity for the metabolism of HGA.
Similar articles
-
Natural history of alkaptonuria.N Engl J Med. 2002 Dec 26;347(26):2111-21. doi: 10.1056/NEJMoa021736. N Engl J Med. 2002. PMID: 12501223
-
Conditional targeting in mice reveals that hepatic homogentisate 1,2-dioxygenase activity is essential in reducing circulating homogentisic acid and for effective therapy in the genetic disease alkaptonuria.Hum Mol Genet. 2019 Dec 1;28(23):3928-3939. doi: 10.1093/hmg/ddz234. Hum Mol Genet. 2019. PMID: 31600782 Free PMC article.
-
Alkaptonuria and ochronosis in three siblings. Ascorbic acid treatment monitored by urinary HGA excretion.Clin Exp Rheumatol. 1988 Jul-Sep;6(3):289-92. Clin Exp Rheumatol. 1988. PMID: 3180550
-
[Alkaptonuria (homogentisic aciduria)].Ryoikibetsu Shokogun Shirizu. 1998;(18 Pt 1):328-31. Ryoikibetsu Shokogun Shirizu. 1998. PMID: 9590059 Review. Japanese. No abstract available.
-
Alkaptonuria: a very rare metabolic disorder.Indian J Biochem Biophys. 2013 Oct;50(5):339-44. Indian J Biochem Biophys. 2013. PMID: 24772955 Review.
Cited by
-
Alkaptonuria: From Molecular Insights to a Dedicated Digital Platform.Cells. 2024 Jun 20;13(12):1072. doi: 10.3390/cells13121072. Cells. 2024. PMID: 38920699 Free PMC article. Review.
-
Impact of chronic kidney disease on the natural history of alkaptonuria.Clin Kidney J. 2012 Aug;5(4):352-5. doi: 10.1093/ckj/sfs079. Clin Kidney J. 2012. PMID: 25874097 Free PMC article.
-
Homogentisate 1,2-dioxygenase (HGD) gene variants, their analysis and genotype-phenotype correlations in the largest cohort of patients with AKU.Eur J Hum Genet. 2019 Jun;27(6):888-902. doi: 10.1038/s41431-019-0354-0. Epub 2019 Feb 8. Eur J Hum Genet. 2019. PMID: 30737480 Free PMC article. Clinical Trial.
-
Old treatments for new insights and strategies: proposed management in adults and children with alkaptonuria.J Inherit Metab Dis. 2015 Sep;38(5):791-6. doi: 10.1007/s10545-015-9844-6. Epub 2015 Apr 10. J Inherit Metab Dis. 2015. PMID: 25860819 Review.
-
Alkaptonuric ochronosis with aortic valve and joint replacements and femoral fracture: a case report and literature review.Clin Med Res. 2004 Nov;2(4):209-15. doi: 10.3121/cmr.2.4.209. Clin Med Res. 2004. PMID: 15931360 Free PMC article. Review.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Medical
