title: Primary cultures of renal proximal tubule cells derived from individuals with primary hyperoxaluria.
abstract: The primary hyperoxalurias, PH1 and PH2, are inherited disorders caused by deficiencies of alanine:glyoxylate aminotransferase and glyoxylate reductase, respectively. Mutations in either of these enzymes leads to endogenous oxalate overproduction primarily in the liver, but most pathological effects are exhibited in the kidney ultimately leading to end-stage renal failure and systemic oxalosis. To provide a non-invasive means of accessing kidney cells from individuals with primary hyperoxaluria, we have derived primary cultures of renal proximal tubule cells from the urine of these patients. The cells stain positively for the epithelial markers pan-cytokeratin and zonula occludens 1 and the proximal tubule marker gamma-glutamyl transpeptidase. Mutation analysis confirmed that the cultured cells had the same genotype as the leucocytes of the patients and also expressed glyoxylate reductase at the mRNA level, illustrating their potential value as a source of renal material from these individuals.
authors.affiliation: Institute of Urology and Nephrology, University College London, London, UK.
authors.forename: Karen L
authors.initials: KL
authors.lastname: Price
authors.forename: Sally-Anne
authors.initials: SA
authors.lastname: Hulton
authors.forename: William G
authors.initials: WG
authors.lastname: van't Hoff
authors.forename: John R
authors.initials: JR
authors.lastname: Masters
authors.forename: Gill
authors.initials: G
authors.lastname: Rumsby
mesh_terms: D000293:Adolescent; D000429:Alcohol Oxidoreductases / Q000235:genetics; D001483:Base Sequence; D002478:Cells, Cultured; D002648:Child; D002675:Child, Preschool; D017931:DNA Primers / Q000235:genetics; D004847:Epithelial Cells / Q000378:metabolism / Q000473:pathology; D005260:Female; D005838:Genotype; D006801:Humans; D006960:Hyperoxaluria, Primary / Q000235:genetics / Q000378:metabolism* / Q000473:pathology* / Q000652:urine; D007223:Infant; D007687:Kidney Tubules, Proximal / Q000378:metabolism* / Q000473:pathology*; D008297:Male; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D014556:Urine / Q000166:cytology; D055815:Young Adult
chemical_list: D017931:DNA Primers; D012333:RNA, Messenger; D000429:Alcohol Oxidoreductases; C020830:glyoxylate reductase