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 |
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Hauptverfasser: | , , |
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. |
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ISSN: | 0140-6736 1474-547X 1474-547X |
DOI: | 10.1016/S0140-6736(24)02508-X |