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

Journal ID (publisher-id): NEF

Journal ID (nlm-ta): Nephron

Journal ID (doi): 10.1159/issn.1660-8151

Title: Nephron

Publisher: S. Karger AG

ISSN (Print): 1660-8151

ISSN (Electronic): 2235-3186

Publication date Subscription-year: 2001

Publication date (Print): 2001

Publication date (Electronic): 22 January 2001

Volume: 87

Issue: 1

Pages: 80-84

Affiliations

^aMedizinische Klinik I, Medizinische Universität Lübeck, und ^bKinderklinik, Medizinische Hochschule Hannover, Deutschland

Article

Publisher ID: 45888 Other ID: Nephron 2001;87:80–84

DOI: 10.1159/000045888

PubMed ID: 11174030

Copyright statement: © 2001 S. Karger AG, Basel

License:

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Page count

Figures: 1, Tables: 1, References: 28, Pages: 5

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Categories

Subject: Case Report