Spolupracovali sme na publikáciach
2024
1.
Bernardini, G.; Braconi, D.; Zatkova, A.; Sireau, N.; Kujawa, M. J.; Introne, W. J.; Spiga, O.; Geminiani, M.; Gallagher, J. A.; Ranganath, L. R.; Santucci, A.
Alkaptonuria Journal Article
V: Nature Reviews Disease Primers, 10 (1), 2024, ISSN: 2056676X.
Abstrakt | Linky | BibTeX | Značky: Alkaptonuria
@article{Bernardini2024,
title = {Alkaptonuria},
author = {G. Bernardini and D. Braconi and A. Zatkova and N. Sireau and M. J. Kujawa and W. J. Introne and O. Spiga and M. Geminiani and J. A. Gallagher and L. R. Ranganath and A. Santucci},
url = {https://www.scopus.com/inward/record.uri?eid=2-s2.0-85187170730&doi=10.1038%2fs41572-024-00498-x&partnerID=40&md5=a17aaeee2296e31b0fabfe4fc1543b86},
doi = {10.1038/s41572-024-00498-x},
issn = {2056676X},
year = {2024},
date = {2024-01-01},
urldate = {2024-01-01},
journal = {Nature Reviews Disease Primers},
volume = {10},
number = {1},
publisher = {Nature Research},
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. © Springer Nature Limited 2024.},
keywords = {Alkaptonuria},
pubstate = {published},
tppubtype = {article}
}
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. © Springer Nature Limited 2024.