.png){kind=icon}
返回
Alkaptonuria
.png){kind=icon}
PRE
AI
DOI：10.1038/s41572-024-00498-x.png)
.png){kind=icon}
原文求助.png){kind=icon}
分享.png){kind=icon}
收藏
摘要
En 中文
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.
Keyword:
HOMOGENTISATE 1,2 DIOXYGENASE
IN-VITRO MODEL
ASCORBIC-ACID
OCHRONOTIC ARTHROPATHY
LIVER-TRANSPLANTATION
PROTEIN RESTRICTION
NATURAL-HISTORY
AORTIC-STENOSIS
RARE DISEASE
NITISINONE
期刊
N
IF:
60.6
论文数:
650
被引数:
3.8W
机构
引用论文
Thermally reconfigurable Janus droplets with nematic liquid crystalline and isotropic perfluorocarbon oil compartments.png)
Soft Matter
OAAI
Soft MatterIF0
OAAI分享收藏分享收藏
查看更多内容