title: Primary Hyperoxaluria Type 1: A Cause for Infantile Renal Failure and Massive Nephrocalcinosis.
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 developed end stage renal disease during childhood. When he was admitted to our hospital, laboratory studies were consistent with end stage renal disease, ultrasound showed bilateral massive nephrocalcinosis. As clinical presentation was suggestive for primary hyperoxaluria type 1, plasma oxalate was determined and found extremely elevated. Genetic testing proved diagnosis by showing a disease causing homozygous mutation (AGXT-gene: c.971_972delT). The patient was put on pyridoxine treatment and aggressive dialysis programme. In conclusion; progressive renal failure in infancy with massive nephrocalcinosis, especially if accompanied by consanguinity and family history, should always raise the suspicion of PH type 1. Increased awareness of the disease would help physicians in both treating the patients and guiding the families who have diseased children and plan to have further pregnancies.
authors.affiliation: Division of Pediatric Nephrology, Ankara University School of Medicine, Ankara, Turkey.
authors.forename: E D
authors.initials: ED
authors.lastname: Kurt-Sukur
authors.affiliation: Division of Pediatric Nephrology, Ankara University School of Medicine, Ankara, Turkey.
authors.forename: Z B
authors.initials: ZB
authors.lastname: Özçakar
authors.affiliation: Division of Pediatric Nephrology, Ankara University School of Medicine, Ankara, Turkey.
authors.forename: S
authors.initials: S
authors.lastname: Fitöz
authors.affiliation: Division of Pediatric Nephrology, Ankara University School of Medicine, Ankara, Turkey.
authors.forename: S
authors.initials: S
authors.lastname: Yilmaz
authors.affiliation: Division of Pediatric Nephrology, Bonn University School of Medicine, Bonn, Germany.
authors.forename: B
authors.initials: B
authors.lastname: Hoppe
authors.affiliation: Division of Pediatric Nephrology, Ankara University School of Medicine, Ankara, Turkey.
authors.forename: F
authors.initials: F
authors.lastname: Yalçinkaya
mesh_terms: D003241:Consanguinity; D004252:DNA Mutational Analysis; D005817:Genetic Counseling; D006720:Homozygote; D006801:Humans; D006960:Hyperoxaluria, Primary / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics; D007223:Infant; D007676:Kidney Failure, Chronic / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D009397:Nephrocalcinosis / Q000175:diagnosis* / Q000235:genetics; D000637:Transaminases / Q000235:genetics
chemical_list: D000637:Transaminases; C019635:Alanine-glyoxylate transaminase