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| http://dx.doi.org/10.4103/idoj.IDOJ_68_21 | DOI Listing |
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Alkaptonuria: a rare disease with multiorgan manifestation and a long-awaited diagnosis.
BMJ Case Rep
December 2024
Lungemedicinsk, Vejle Sygehus, Vejle, Denmark.
Alkaptonuria is a rare inherited disease resulting from a genetic variant leading to homogentisic acid accumulation in body tissues, causing a broad spectrum of symptoms. Our case involves a Caucasian male diagnosed in his 70s, who shares a constellation of symptoms and the diagnosis with his monozygotic twin brother. The symptoms include early-onset arthropathy, tendinopathy, osteopenia, discolouration of the auricular regions and fingers, scleral discolouration, secondary glaucoma, proteinuria, calcification of the mitral valve and black urethral and prostate stones.
View Article and Find Full Text PDFNon-cemented Total Hip Arthroplasty in a Rare Case with Black Hip, A Case Report.
Adv Biomed Res
October 2024
Department of Orthopedic and Trauma Surgery, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran.
Alkaptonuria is a metabolic disorder characterized by homogentisic acid accumulation in connective tissue. Ochronotic arthropathy, a rare condition reported in alkaptonuria, mostly affects the knee joint. In this study we reported a 57-year-old male patient presented with bilateral hip pain.
View Article and Find Full Text PDFAn anatomical investigation of alkaptonuria: Novel insights into ochronosis of cartilage and bone.
J Anat
December 2024
Human Anatomy Resource Centre, Education Directorate, University of Liverpool, Liverpool, UK.
Ochronotic pigmentation of connective tissue is the central pathological process in the rare metabolic disease alkaptonuria (AKU). Tissue pigmentation in AKU occurs due to unmetabolised homogentisic acid (HGA) in the circulation, caused by an enzyme deficiency in the liver. Ochronotic pigmentation, derived from HGA, has previously been reported and described in large joints obtained from arthroplasty surgeries, which typically have advanced disease.
View Article and Find Full Text PDFBlackish Discoloration of Articular Cartilage during Total Knee Replacement; a Case Report.
J Orthop Case Rep
December 2024
Department of Orthopaedics, Government Medical College Trivandrum, Kerala, India.
Introduction: Alkaptonuria is a rare metabolic disorder that follows an autosomal recessive genetic inheritance pattern. It is distinguished by the buildup of homogentisic acid in tissues due to deficient homogentisic acid oxidase enzyme activity. The excess homogentisic acid is expelled through urine, darkening it on oxidation.
View Article and Find Full Text PDFBlack tendon-identifying a rare autosomal recessive disorder: Intraoperative diagnosis of alkaptonuria: A case report.
SAGE Open Med Case Rep
October 2024
Department of Orthopaedics, Kasturba Medical College, Manipal, Karnataka, India.
Tendon injuries in the lower extremities are common in physically active individuals, although spontaneous Achilles tendon ruptures are linked to oral corticosteroid or fluoroquinolone use. Such ruptures are typically due to degenerative changes within the tendon and frequently occur during sudden dorsiflexion of a plantar-flexed foot. Bilateral spontaneous ruptures are especially prevalent in patients undergoing long-term corticosteroid therapy.
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