Introduction: Primary Hyperoxaluria Type I (PH1) is due to the deficiency of liver peroxisomal alanine:glyoxylate aminotransferase (AGT). The disease manifests as calcium oxalate stones that deposit at first in the kidneys and then in the whole body. The molecular pathogenesis of PH1 has been widely investigated in the last few years and the results obtained have paved the way for the development of new treatment options.Areas covered: In this review, the symptomatic and curative approaches available for the treatment of PH1 are described. Moreover, an outline of the therapeutic strategies that are currently under investigation is provided. The latter include gene and cell therapy, substrate-reduction therapies, pharmacological chaperones, enzyme replacement approaches and strategies aimed at improving intestinal oxalate elimination.Expert opinion: The great efforts and investments on the study of PH1 have made the development of new therapies an achievable goal in the near future. A better stratification of the patients on the basis of the molecular effects of the mutations along with the implementation of treatment protocols combining different approaches, will be the subsequent challenges to face to further improve patient management.
Treatment options in primary hyperoxaluria Type I
Cellini, Barbara
2017
Abstract
Introduction: Primary Hyperoxaluria Type I (PH1) is due to the deficiency of liver peroxisomal alanine:glyoxylate aminotransferase (AGT). The disease manifests as calcium oxalate stones that deposit at first in the kidneys and then in the whole body. The molecular pathogenesis of PH1 has been widely investigated in the last few years and the results obtained have paved the way for the development of new treatment options.Areas covered: In this review, the symptomatic and curative approaches available for the treatment of PH1 are described. Moreover, an outline of the therapeutic strategies that are currently under investigation is provided. The latter include gene and cell therapy, substrate-reduction therapies, pharmacological chaperones, enzyme replacement approaches and strategies aimed at improving intestinal oxalate elimination.Expert opinion: The great efforts and investments on the study of PH1 have made the development of new therapies an achievable goal in the near future. A better stratification of the patients on the basis of the molecular effects of the mutations along with the implementation of treatment protocols combining different approaches, will be the subsequent challenges to face to further improve patient management.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
