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Hyperoxaluria by the AGXT gene: a case report
Alessandra Vitorino Naghettini1, Alice Leite Mesquita2, Andrielle Nunes Santos2
1Faculdade de Medicina, Universidade Federal de Goiás, Rua 235 Esq. Com 5ª Avenida, S/N, Setor Universitário, Goiânia, Goiás, CEP 74605-020, Brazil. alessandra_naghettini@ufg.br.
Journal of Medical Case Reports
|January 17, 2026
Summary
Genetic testing identified an AGXT gene mutation in a child with primary hyperoxaluria type 1, enabling targeted therapy and family screening. Early diagnosis of this rare genetic kidney disease is crucial for effective management and preventing advanced renal disease.
Area of Science:
- Genetics and Genomics
- Nephrology
- Rare Diseases
Background:
- Primary hyperoxaluria type 1 (PH1) is a rare genetic disorder characterized by excessive oxalate production, leading to nephrocalcinosis, nephrolithiasis, and chronic kidney disease.
- This case report focuses on a pediatric patient with a confirmed AGXT gene mutation, presenting with a history of recurrent kidney stones and progressive kidney damage.
- Identifying specific AGXT variants is crucial for understanding disease progression and guiding therapeutic strategies in PH1.
Purpose of the Study:
- To detail the diagnostic journey and therapeutic implications of identifying an AGXT c.33dup (p.Lys12Glnfs*156) variant in a pediatric patient with PH1.
- To highlight the importance of genetic testing in early diagnosis and management of PH1, particularly in cases with unexplained nephrocalcinosis or recurrent nephrolithiasis.
- To emphasize how recognizing nonresponsive genotypes can prevent prolonged, ineffective treatments and facilitate timely evaluation for advanced therapies.
Main Methods:
- Clinical case presentation of a 9-year-old boy with a history of nephrolithiasis and nephrocalcinosis.
- Diagnostic evaluation included assessment of hyperoxaluria and serum oxalate levels, confirming PH1.
- Genetic analysis identified homozygosity for the AGXT c.33dup (p.Lys12Glnfs*156) variant; family screening was performed. Lumasiran therapy was initiated.
Main Results:
- The patient was diagnosed with primary hyperoxaluria type 1 due to homozygosity for the AGXT c.33dup variant.
- The patient experienced acute renal failure requiring intervention but achieved partial recovery with stable kidney function.
- Two asymptomatic siblings were identified as heterozygous carriers, underscoring the utility of family screening.
Conclusions:
- Primary hyperoxaluria type 1 presents significant diagnostic and therapeutic challenges, especially in resource-limited settings.
- Early genetic identification of AGXT variants provides critical prognostic information and guides treatment decisions, including the potential for liver transplantation or RNA interference therapy.
- Implementing early genetic testing in children with unexplained kidney conditions can lead to cost-effective diagnosis, targeted treatment, and reduced long-term healthcare burdens.
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