Impact of chronic kidney disease on the natural history of alkaptonuria.
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ABSTRACT:
SUBMITTER: Faria B
PROVIDER: S-EPMC4393483 | biostudies-other | 2012 Aug
REPOSITORIES: biostudies-other
Publications
Impact of chronic kidney disease on the natural history of alkaptonuria.
Faria Bernardo B Vidinha Joana J Pêgo Cátia C Correia Hugo H Sousa Tânia T
Clinical kidney journal 20120801 4
In alkaptonuria, deficiency of homogentisate 1,2-dioxygenase leads to the accumulation of homogentisic acid (HGA) and its metabolites in the body, resulting in ochronosis. Reports of patients with alkaptonuria who have decreased kidney function are rare, but this seems to play an important role in the natural history of the disease. We describe a 68-year-old female with chronic kidney disease (CKD) of unknown etiology who started peritoneal dialysis (PD) after 5 years of follow-up and who was di ...[more]
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