Alkaptonuria

IF 76.9 1区 医学 Q1 MEDICINE, GENERAL & INTERNAL
Giulia Bernardini, Daniela Braconi, Andrea Zatkova, Nick Sireau, Mariusz J. Kujawa, Wendy J. Introne, Ottavia Spiga, Michela Geminiani, James A. Gallagher, Lakshminarayan R. Ranganath, Annalisa Santucci
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Abstract

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.

Abstract Image

Alkaptonuria
钾离子尿症是一种罕见的先天性代谢异常,是由于同戊酸 1,2-二氧 化酶活性缺乏引起的。因此,同型戊二酸(HGA)在体液和组织中的蓄积导致了一种多系统和高度衰弱的疾病,其主要特征是深色尿液、赭石症(富含胶原的结缔组织中的 HGA 衍生色素)以及一种疼痛和严重的骨关节病。其他临床表现极其多变,包括肾结石和前列腺结石、主动脉狭窄、骨折以及肌腱、韧带和/或肌肉断裂。作为一种常染色体隐性遗传疾病,碱蛋白尿症对男性和女性的影响相同。使人衰弱的症状出现在生命的第三个十年左右,但由于这些症状的非特异性和医生缺乏相关知识,正确和及时的诊断往往被延误。到了晚期,患者的生活质量可能会受到严重影响,并因合并症而进一步复杂化。因此,碱蛋白尿的适当治疗需要多学科方法,建议定期进行临床评估,以监测疾病进展、并发症和/或合并症,并及时进行干预。治疗方案根据患者的具体情况而定,包括药物、物理治疗和手术的综合治疗。目前的基础和临床研究侧重于改善患者管理、开发创新疗法和实施精准医疗策略。
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来源期刊
Nature Reviews Disease Primers
Nature Reviews Disease Primers Medicine-General Medicine
CiteScore
76.70
自引率
0.20%
发文量
75
期刊介绍: Nature Reviews Disease Primers, a part of the Nature Reviews journal portfolio, features sections on epidemiology, mechanisms, diagnosis, management, and patient quality of life. The editorial team commissions top researchers — comprising basic scientists and clinical researchers — to write the Primers, which are designed for use by early career researchers, medical students and principal investigators. Each Primer concludes with an Outlook section, highlighting future research directions. Covered medical specialties include Cardiology, Dermatology, Ear, Nose and Throat, Emergency Medicine, Endocrinology, Gastroenterology, Genetic Conditions, Gynaecology and Obstetrics, Hepatology, Haematology, Infectious Diseases, Maxillofacial and Oral Medicine, Nephrology, Neurology, Nutrition, Oncology, Ophthalmology, Orthopaedics, Psychiatry, Respiratory Medicine, Rheumatology, Sleep Medicine, and Urology.
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