Abstract
Abstract Background and Aims Primary Hyperoxaluria type 1 (PH1) is caused by biallelic variants in the AGXT gene, leading to alanine:glyoxylate aminotransferase deficiency, hepatic overproduction of oxalate, hyperoxaluria, nephrolithiasis (NL), and/or nephrocalcinosis (NC), often progressing to chronic kidney disease (CKD) with variable phenotypes. Brazilian population is unique due to its diverse ancestry and high admixture rate, which makes this population an interesting group to expand clinical and genetic profile of PH1. Method A descriptive study of genetic confirmed PH1 patients from various regions of Brazil, involving demographic, clinical-laboratory, and genetic data. Results Twenty-one patients (17 families) were identified; 4 detected by family screening (2 with active disease). Parental consanguinity detected in 4 families (23.5%). Nineteen symptomatic patients (12 males) included. At PH1 diagnosis, 3 patients were on CKD stage 1, 1 on CKD 3 and 15 were on CKD 5. We observed notable clinical heterogeneity, and 3 groups are described according to the age at onset. Table 1 shows data for each group and symptomatic cases. All patients have received pyridoxine since PH1 diagnosis. Conclusion In this Brazilian cohort we observed a high percentage of patients diagnosed on CKD 5, detected by recurrence in the renal graft after isolated renal transplantation, and patients achieving CKD 5 after obstructive kidney stones episode. Several factors, including the broad phenotypic spectrum, the lack of awareness among physicians about the disease and the scarcity of diagnostic tools, may explain this delay in diagnosis. Therefore, there is a need to improve information to the Brazilian medical community. The genetic findings are similar to European and North America genetic descriptions and 2 novel variants were identified expanding the AGXT variants profile. However, it is noteworthy, the high percentage of compound heterozygous variants compared with other cohorts worldwide, which may be characteristic of an admixed population.
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