CareLit Fachartikel
Primary Hyperoxaluria Type 1: A Cause for Infantile Renal Failure and Massive Nephrocalcinosis
N.N. · Klinische Pädiatrie · 2015 · Heft 05 · S. 293-295
Dokument
1145329
CareLit-ID
Jahr
2015
Publikation
PDF
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Metadaten
DOI
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Bibliografische Angaben
Zusammenfassung
Abstract Primary hyperoxaluria type 1 is a rare autosomal-recessive disease caused by the deficient activity of the liver specific enzyme alanine-glyoxylate aminotransferase. Increased endogenous oxalate production induces severe hyperoxaluria, recurrent urolithiasis, progressive nephrocalcinosis and renal failure. Here we report a 6 month old boy who presented with vomiting and decreased urine volume. He was diagnosed with chronic kidney failure at 4 months of age and peritoneal dialysis was introduced at a local hospital. His parents were third degree cousins and family history revealed 2 maternal cousins who…
Schlagworte
AGXT gene
consanguinity
end stage renal disease
hyperoxaluria
nephrocalcinosis
AGXT Gen
Blutsverwandtschaft
terminale Niereninsuffizienz
Hyperoxalurie
Nephrokalzinose
Dialysis
Physicians
Awareness
Diagnosis
Alanine
Klinische Pädiatrie
