title: Hyperoxaluria and systemic oxalosis: an update on current therapy and future directions.
abstract: BACKGROUND
  The primary hyperoxalurias (PH) are rare, but underdiagnosed disorders where the loss of enzymatic activity in key compounds of glyoxylate metabolism results in excessive endogenous oxalate generation. Clinically, they are characterized by recurrent urolithiasis and/or nephrocalcinosis. PH type I is the most frequent and most devastating subtype often leading to early end-stage renal failure.
  
  
  METHODS
  Profound overview of clinical, diagnostic, and currently available treatment options with a focus on PH I at different stages of the disease. Discussion of future therapeutic avenues including pharmacological chaperones (small molecules rescuing protein function), gene therapy with safer adenoviral vectors, and potential application of cell-based transplantation strategies is provided.
  
  
  CONCLUSIONS
  Due to lack of familiarity with PH and its heterogeneous clinical expression, diagnosis is often delayed until advanced disease is present, a condition, requiring intensive hemodialysis and timely transplantation. Achieving the most beneficial outcome largely depends on the knowledge of the clinical spectrum, early diagnosis, and initiation of treatment before renal failure ensues. A number of preconditions required for substantial improvement in the care of orphan disease like PH have now been achieved or soon will come within reach, so new treatment options can be expected in the near future.
authors.affiliation: University of Cologne, Institute of Human Genetics, Cologne, Germany.
authors.forename: Bodo B
authors.initials: BB
authors.lastname: Beck
authors.forename: Heike
authors.initials: H
authors.lastname: Hoyer-Kuhn
authors.forename: Heike
authors.initials: H
authors.lastname: Göbel
authors.forename: Sandra
authors.initials: S
authors.lastname: Habbig
authors.forename: Bernd
authors.initials: B
authors.lastname: Hoppe
mesh_terms: D000818:Animals; D006801:Humans; D006959:Hyperoxaluria / Q000175:diagnosis / Q000235:genetics / Q000628:therapy*; D016030:Kidney Transplantation; D016031:Liver Transplantation; D006435:Renal Dialysis; D025101:Vitamin B 6 / Q000627:therapeutic use
chemical_list: D025101:Vitamin B 6