Abstract
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.
MeSH terms
-
Genotype*
-
Humans
-
Hyperoxaluria, Primary / diagnosis*
-
Hyperoxaluria, Primary / epidemiology
-
Hyperoxaluria, Primary / genetics*
-
Hyperoxaluria, Primary / metabolism
-
Hyperoxaluria, Primary / mortality
-
Hyperoxaluria, Primary / pathology
-
Models, Biological
-
Mutation
-
Phenotype*
-
Prevalence
-
Prognosis
-
Survival Analysis
-
Transaminases / genetics*
-
Urinary Calculi / etiology
-
Urinary Calculi / pathology
Substances
-
Transaminases
-
Alanine-glyoxylate transaminase