A case of late-onset primary hyperoxaluria type 1.
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.
Blaschke
Sabine
S
Department of Nephrology and Rheumatology, Georg-August University, Goettingen, Germany. sblasch@gwdg.de
Grupp
Clemens
C
Haase
Jens
J
Kleinoeder
Thomas
T
Hallermann
Christian
C
Troche
Ilka
I
Gröne
Hermann-J
HJ
Müller
Gerhard A
GA
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