Identification of HGD mutations in an alkaptonuria patient: using the Internet to seek rare diseases

Abstract

JGMInternet resources, it has resulted in wide-spread public scientific information, particularly in rare diseases. We present a case of AKU patient described with two novel HGD mutations who visited Hanyang University Medical Center based on self-diagnosis via web searching. CaseAn 18-year-old boy visited our center for dark grey discoloration of urine. He was born at full term of gestation to non-consanguineous and healthy Korean parents after an uneventful pregnancy and delivery. His chief complaint was dark black urine since infant period. His parents have consulted general pediatricians, but they have diagnosed him as uric aciduria. General pediatricians had only performed a routine urine analysis at infant period. His symptoms have persisted until adolescence, thus the

Black Bone Disease: Ochronotic Arthritis Detected during Knee Arthroplasty

“…There have been case reports of discolouration of the urine and rupture of the black crescent-shaped cartilage. [6][7][8] However, to date, there have been no reports of arthritis in alkaptonuria in Korea. Herein, we report a case of ochronotic arthritis observed during total knee arthroplasty with a literature review.…”