Primary hyperoxaluria type 1 causing end-stage renal disease in a 45-year-old patient.

Abstract:

:Primary hyperoxaluria type 1 (PH1) is caused by deficiency of peroxisomal alanine-glyoxylate aminotransferase which is in humans exclusively expressed in liver cells. The disease is inherited as an autosomal recessive trait, and initial symptoms usually occur in early childhood. Up to the age of 25 years, 90% of the patients are symptomatic, and many patients develop end-stage renal failure. Pronounced medical care is necessary in PH1 patients to prevent generalized oxalosis with complications due to bone disease and peripheral gangrene. The rather short survival of patients on hemodialysis is caused by sudden arrhythmias and heart block. As no dialysis procedure is able to remove the daily produced oxalate, early transplantation is mandatory. Our 45-year-old patient is remarkable on the basis of the late manifestations of PH1. The diagnosis was delayed by unspecific symptoms of nephrolithiasis with recurrent pyelonephritis. Clinical course and diagnostic cornerstones of primary hyperoxaluria are outlined. The principles of conservative treatment and experiences with dialysis and transplantation are discussed.

journal_name

Nephron

journal_title

Nephron

authors

David-Walek T,Niederstadt C,Rob PM,Fricke L,Latta K,Steinhoff J,Stange EF

doi

10.1159/000045888

subject

Has Abstract

pub_date

2001-01-01 00:00:00

pages

80-4

issue

1

eissn

1660-8151

issn

2235-3186

pii

45888

journal_volume

87

pub_type

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