title: A case of late-onset primary hyperoxaluria type 1.
abstract: Primary hyperoxaluria type 1 (PH1) is an inherited metabolic disorder characterized by recurrent urolithiasis and nephrocalcinosis frequently leading to progressive renal insufficiency during the second decade of life. Systemic organ involvement as a result of the accumulation of calcium oxalate crystal deposits in vessel walls often is observed. We report a case of a 56-year-old woman with late-onset of PH1 who developed rapidly progressive renal failure and severe systemic oxalosis with skin and eye involvement despite intensified hemodialytic therapy during the waiting period for combined liver and kidney transplantation. This case illustrates the difficulties in treatment of PH1-induced end-stage renal disease. Combined liver and kidney transplantation should be offered to these patients as soon as possible to reverse the underlying metabolic defect and to restore renal function.
authors.affiliation: Department of Nephrology and Rheumatology, Georg-August University, Goettingen, Germany. sblasch@gwdg.de
authors.forename: Sabine
authors.initials: S
authors.lastname: Blaschke
authors.forename: Clemens
authors.initials: C
authors.lastname: Grupp
authors.forename: Jens
authors.initials: J
authors.lastname: Haase
authors.forename: Thomas
authors.initials: T
authors.lastname: Kleinoeder
authors.forename: Christian
authors.initials: C
authors.lastname: Hallermann
authors.forename: Ilka
authors.initials: I
authors.lastname: Troche
authors.forename: Hermann-J
authors.initials: HJ
authors.lastname: Gröne
authors.forename: Gerhard A
authors.initials: GA
authors.lastname: Müller
mesh_terms: D005260:Female; D006801:Humans; D006960:Hyperoxaluria, Primary / Q000175:diagnosis* / Q000209:etiology / Q000628:therapy*; D007669:Kidney Calculi / Q000150:complications; D007676:Kidney Failure, Chronic / Q000209:etiology / Q000628:therapy; D008875:Middle Aged; D010531:Peritoneal Dialysis, Continuous Ambulatory; D006435:Renal Dialysis