Novel therapeutic approaches for the primary hyperoxalurias.
Loss-of-function mutations in three genes, involved in the metabolic pathway of glyoxylate, result in increased oxalate production and its crystallization in the form of calcium oxalate. This leads to three forms of primary hyperoxaluria—an early-onset inherited kidney disease with wide phenotypic v...
| Publicado en: | Pediatric Nephrology Vol. 36; no. 9; pp. 2593 - 2607 |
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| Autores principales: | , |
| Formato: | pictorial review tables/charts Journal Article |
| Publicado: |
Springer Nature
Sep2021
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=151961698&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 151961698 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 0931041X EF1 jtl: Pediatric Nephrology issn: 0931041X maglogo: N pubinfo: dt: Sep2021 vid: 36 iid: 9 pid: 237 pub: Springer Nature place: New York, New York artinfo: ui: 151961698 146880499 151961698 151961698 10.1007/s00467-020-04817-8 151961698 ppf: 2593 ppct: 14 formats: fmt: – @attributes: type: T – @attributes: type: P tig: atl: Novel therapeutic approaches for the primary hyperoxalurias. aug: au: Belostotsky, Ruth Frishberg, Yaacov affil: Division of Pediatric Nephrology, Shaare Zedek Medical Center, 12 Bait Street, 9103102, Jerusalem, Israel sug: subj: Carbohydrate Metabolism, Inborn Errors Therapy Oxalic Acids Urine Biotechnology Metabolic Networks and Pathways Oxalic Acids Metabolism Molecular Structure Drug Design Carbohydrate Metabolism, Inborn Errors Symptoms Carbohydrate Metabolism, Inborn Errors Diagnosis Renal Insufficiency, Chronic Liver Transplantation Kidney Transplantation Mutation Genetic Counseling ab: Loss-of-function mutations in three genes, involved in the metabolic pathway of glyoxylate, result in increased oxalate production and its crystallization in the form of calcium oxalate. This leads to three forms of primary hyperoxaluria—an early-onset inherited kidney disease with wide phenotypic variability ranging from isolated kidney stone events to stage 5 chronic kidney disease in infancy. This review provides a description of metabolic processes resulting in oxalate overproduction and summarizes basic therapeutic approaches. Unfortunately, current treatment of primary hyperoxaluria does not allow the prevention of loss of kidney function or to substantially diminish other symptoms in most patients. However, latest breakthroughs in biotechnology provide new promising directions for drug development. Some of them have already progressed to the level of clinical trials; others are just at the stage of proof of concept. Here we review the most advanced technologies including those that have been harnessed as possible therapeutic modalities. pubtype: Academic Journal doctype: pictorial review tables/charts Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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