title: Late diagnosis of primary hyperoxaluria after failed kidney transplantation.
abstract: Primary hyperoxaluria type 1 (PH1) is a rare autosomal recessive inborn error of the glyoxylate metabolism that is based on absence, deficiency or mislocalization of the liver-specific peroxisomal enzyme alanine:glyoxylate aminotransferase. Hyperoxaluria leads to recurrent formation of calculi and/or nephrocalcinosis and often early end-stage renal disease (ESRD) accompanied by systemic calcium oxalate crystal deposition. In this report, we describe an adult female patient with only one stone passage before development of ESRD. With unknown diagnosis of PH, the patient received an isolated kidney graft and developed an early onset of graft failure. Although initially presumed as an acute rejection, the biopsy revealed calcium oxalate crystals, which then raised a suspicion of primary hyperoxaluria. The diagnosis was later confirmed by hyperoxaluria, elevated plasma oxalate levels and mutation of the AGXT gene, showing the patient to be compound heterozygous for the c.33_34InsC and c.508G > A mutations. Plasma oxalate levels did not decrease after high-dose pyridoxine treatment. Based on this case report, we would recommend in all patients even with a minor history of nephrolithiasis but progression to chronic renal failure to exclude primary hyperoxaluria before isolated kidney transplantation is considered.
authors.affiliation: University Department of Nephrology, Medical Faculty, University of Skopje, Vodnjanska 17, 1000 Skopje, Macedonia. gspas@sonet.com.mk
authors.forename: Goce
authors.initials: G
authors.lastname: Spasovski
authors.forename: Bodo B
authors.initials: BB
authors.lastname: Beck
authors.forename: Nenad
authors.initials: N
authors.lastname: Blau
authors.forename: Bernd
authors.initials: B
authors.lastname: Hoppe
authors.forename: Velibor
authors.initials: V
authors.lastname: Tasic
mesh_terms: D057210:Delayed Diagnosis; D003951:Diagnostic Errors; D005260:Female; D006801:Humans; D006960:Hyperoxaluria, Primary / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D007668:Kidney / Q000378:metabolism / Q000473:pathology; D007676:Kidney Failure, Chronic / Q000175:diagnosis / Q000209:etiology / Q000601:surgery*; D016030:Kidney Transplantation; D008875:Middle Aged; D009397:Nephrocalcinosis / Q000209:etiology; D010070:Oxalates / Q000097:blood / Q000378:metabolism; D055031:Primary Graft Dysfunction / Q000175:diagnosis / Q000473:pathology; D017211:Treatment Failure
chemical_list: D010070:Oxalates