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Start Over Descriptor "Rare disorder" Journal urolithiasis
2 results on '"Rare disorder"'

1. Molecular basis of primary hyperoxaluria: clues to innovative treatments.

Author

Dindo, Mirco, Conter, Carolina, Oppici, Elisa, Ceccarelli, Veronica, Marinucci, Lorella, and Cellini, Barbara

Subjects
*GENETIC disorders, *DISEASES, *MOLECULAR chaperones, *URINARY organs, *CALCIUM oxalate, *RNA interference
Abstract

Primary hyperoxalurias (PHs) are rare inherited disorders of liver glyoxylate metabolism, characterized by the abnormal production of endogenous oxalate, a metabolic end-product that is eliminated by urine. The main symptoms are related to the precipitation of calcium oxalate crystals in the urinary tract with progressive renal damage and, in the most severe form named Primary Hyperoxaluria Type I (PH1), to systemic oxalosis. The therapies currently available for PH are either poorly effective, because they address the symptoms and not the causes of the disease, or highly invasive. In the last years, advances in our understanding of the molecular bases of PH have paved the way for the development of new therapeutic strategies. They include (i) substrate-reduction therapies based on small-molecule inhibitors or the RNA interference technology, (ii) gene therapy, (iii) enzyme administration approaches, (iv) colonization with oxalate-degrading intestinal microorganisms, and, in PH1, (v) design of pharmacological chaperones. This paper reviews the basic principles of these new therapeutic strategies and what is currently known about their application to PH. [ABSTRACT FROM AUTHOR]

Published
2019
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2. Molecular basis of primary hyperoxaluria: clues to innovative treatments

Author

Elisa Oppici, Veronica Ceccarelli, Lorella Marinucci, Mirco Dindo, Barbara Cellini, and Carolina Conter

Subjects
Drug discovery, Molecular basis of disease, Pharmacological chaperones, Primary hyperoxaluria, Rare disorder, Substrate-reduction therapies, Urology, Urinary system, Genetic enhancement, Oxalobacter formigenes, 030232 urology & nephrology, Disease, Pharmacology, Kidney, Nephrolithiasis, 03 medical and health sciences, 0302 clinical medicine, RNA interference, Primary Hyperoxaluria Type I, Medicine, Humans, Glyoxylate metabolism, Transaminases, chemistry.chemical_classification, Hyperoxaluria, Calcium Oxalate, business.industry, Alcohol Oxidoreductases, Gastrointestinal Microbiome, Genetic Therapy, Glyoxylates, Hyperoxaluria, Primary, Kidney Transplantation, Liver, Liver Transplantation, Pyridoxine, RNA Interference, Treatment Outcome, Renal Elimination, medicine.disease, Enzyme, chemistry, business, Primary
Abstract

Primary hyperoxalurias (PHs) are rare inherited disorders of liver glyoxylate metabolism, characterized by the abnormal production of endogenous oxalate, a metabolic end-product that is eliminated by urine. The main symptoms are related to the precipitation of calcium oxalate crystals in the urinary tract with progressive renal damage and, in the most severe form named Primary Hyperoxaluria Type I (PH1), to systemic oxalosis. The therapies currently available for PH are either poorly effective, because they address the symptoms and not the causes of the disease, or highly invasive. In the last years, advances in our understanding of the molecular bases of PH have paved the way for the development of new therapeutic strategies. They include (i) substrate-reduction therapies based on small-molecule inhibitors or the RNA interference technology, (ii) gene therapy, (iii) enzyme administration approaches, (iv) colonization with oxalate-degrading intestinal microorganisms, and, in PH1, (v) design of pharmacological chaperones. This paper reviews the basic principles of these new therapeutic strategies and what is currently known about their application to PH.

Published
2018

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