Is there a genotype-phenotype correlation in primary hyperoxaluria type 1?
There is ongoing debate about a genotype-phenotype correlation in patients with primary hyperoxaluria type 1 and specific AGXT mutations. However, other determinants like environmental factors or modifer genes may play a pivotal role in the heterogeneity of the disease. The report of Lorenzo and co-workers highlights this situation, presenting data of a whole population with just one specific AGXT mutation.
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Division of Pediatric Nephrology, University Children's Hospital, Cologne, Germany. Bernd.Hoppe@uk-koeln.de
Hoppe
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D005838:Genotype; D006801:Humans; D006960:Hyperoxaluria, Primary / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics* / Q000378:metabolism / Q000401:mortality / Q000473:pathology; D008954:Models, Biological; D009154:Mutation; D010641:Phenotype; D015995:Prevalence; D011379:Prognosis; D016019:Survival Analysis; D000637:Transaminases / Q000235:genetics*; D014545:Urinary Calculi / Q000209:etiology / Q000473:pathology
D000637:Transaminases; C019635:Alanine-glyoxylate transaminase