Alkaptonuria.

Autor: Bernardini G; Department of Biotechnology, Chemistry and Pharmacy, University of Siena, Siena, Italy. giulia.bernardini@unisi.it., Braconi D; Department of Biotechnology, Chemistry and Pharmacy, University of Siena, Siena, Italy., Zatkova A; Institute of Clinical and Translational Research, Biomedical Research Center of the Slovak Academy of Sciences, Bratislava, Slovakia.; Geneton Ltd, Bratislava, Slovakia., Sireau N; AKU Society, Cambridge, UK., Kujawa MJ; 2nd Department of Radiology, Medical University of Gdansk, Gdansk, Poland., Introne WJ; Human Biochemical Genetics Section, Medical Genetics Branch, Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Spiga O; Department of Biotechnology, Chemistry and Pharmacy, University of Siena, Siena, Italy., Geminiani M; Department of Biotechnology, Chemistry and Pharmacy, University of Siena, Siena, Italy., Gallagher JA; Department of Musculoskeletal and Ageing Science, Institute of Life Course and Medical Sciences University of Liverpool, Liverpool, UK., Ranganath LR; Department of Musculoskeletal and Ageing Science, Institute of Life Course and Medical Sciences University of Liverpool, Liverpool, UK.; Department of Clinical Biochemistry and Metabolic Medicine, Royal Liverpool University Hospital, Liverpool, UK., Santucci A; Department of Biotechnology, Chemistry and Pharmacy, University of Siena, Siena, Italy.
Jazyk: angličtina
Zdroj: Nature reviews. Disease primers [Nat Rev Dis Primers] 2024 Mar 07; Vol. 10 (1), pp. 16. Date of Electronic Publication: 2024 Mar 07.
DOI: 10.1038/s41572-024-00498-x
Abstrakt: Alkaptonuria is a rare inborn error of metabolism caused by the deficiency of homogentisate 1,2-dioxygenase activity. The consequent homogentisic acid (HGA) accumulation in body fluids and tissues leads to a multisystemic and highly debilitating disease whose main features are dark urine, ochronosis (HGA-derived pigment in collagen-rich connective tissues), and a painful and severe form of osteoarthropathy. Other clinical manifestations are extremely variable and include kidney and prostate stones, aortic stenosis, bone fractures, and tendon, ligament and/or muscle ruptures. As an autosomal recessive disorder, alkaptonuria affects men and women equally. Debilitating symptoms appear around the third decade of life, but a proper and timely diagnosis is often delayed due to their non-specific nature and a lack of knowledge among physicians. In later stages, patients' quality of life might be seriously compromised and further complicated by comorbidities. Thus, appropriate management of alkaptonuria requires a multidisciplinary approach, and periodic clinical evaluation is advised to monitor disease progression, complications and/or comorbidities, and to enable prompt intervention. Treatment options are patient-tailored and include a combination of medications, physical therapy and surgery. Current basic and clinical research focuses on improving patient management and developing innovative therapies and implementing precision medicine strategies.
(© 2024. Springer Nature Limited.)
Databáze: MEDLINE
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