Finding ochronotic sclera and ear discoloration in a 75-year-old man leads to a diagnosis of alkaptonuria

[...]the patient had prostate stones aged 73 years which were diagnosed after he reported difficulties with micturition; he had a transurethral resection of his prostate. [...]cost approval for treatment with nitisinone was requested, approved, and started 5 months later. Ochronosis describes the ac...

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Veröffentlicht in:The Lancet (British edition) 2024-12, Vol.404 (10469), p.e7-e7
Hauptverfasser: Said, Sadiq, Bosch, Martina M, Blaser, Frank
Format: Artikel
Sprache:eng
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Zusammenfassung:[...]the patient had prostate stones aged 73 years which were diagnosed after he reported difficulties with micturition; he had a transurethral resection of his prostate. [...]cost approval for treatment with nitisinone was requested, approved, and started 5 months later. Ochronosis describes the accumulation process of homogentisic acid as pigmented deposits in connective tissues; large joints, the cardiovascular system—including heart valves and the intima of vessels; the urogenital system, the skin, and the eyes may be affected, leading to tissue or organ dysfunction and significantly impacting the quality of life.
ISSN:0140-6736
1474-547X
1474-547X
DOI:10.1016/S0140-6736(24)02508-X