Expanding the Genetic Spectrum of <i>AGXT</i> Gene Variants in Egyptian Patients with Primary Hyperoxaluria Type I

Naguib, Somayya; Mansour, Lamiaa A.; Soliman, Neveen A.; El-Hanafy, Hadeel M.; Fahmy, Yosra A.; Elmonem, Mohamed A.; Halim, Radwa M. Abdel

doi:10.1089/gtmb.2023.0525

Genetic Testing and Molecular Biomarkers

2024

DOI: 10.1089/gtmb.2023.0525

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Expanding the Genetic Spectrum of AGXT Gene Variants in Egyptian Patients with Primary Hyperoxaluria Type I

Somayya Naguib,

Lamiaa A. Mansour,

Neveen A. Soliman

et al.

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Cited by 1 publication

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Mutation Characteristics of Primary Hyperoxaluria in the Chinese Population and Current International Diagnosis and Treatment Status

Zhu,

Cheung,

Zhang

et al. 2024

Kidney Dis

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Background: Primary hyperoxaluria (PH) is a rare autosomal recessive disorder, mainly due to the increase in endogenous oxalate production, causing a series of clinical features such as kidney stones, nephrocalcinosis, progressive impairment of renal function, and systemic oxalosis. There are three common genetic causes of glycolate metabolism anomalies. Among them, PH type 1 is the most prevalent and severe type, and early end-stage renal failure often occurs. Summary: This review summarizes primary hyperoxaluria through pathophysiology, genotype, clinical manifestation, diagnosis, and treatment options. And explore the characteristics of Chinese PH patients. Key Messages: Diagnosis of this rare disease is based on clinical symptoms, urinary or blood oxalate concentrations, liver biopsy, and genetic testing. Currently, the main treatment is massive hydration, citrate inhibition of crystallization, dialysis, liver and kidney transplantation, and pyridoxine. Recently, RNA interference drugs have also been used. In addition, technologies such as gene editing and autologous liver cell transplantation are also being developed. C.815_816insGA and c.33_34insC mutation in the AGXT gene could be a common variant in Chinese PH1 population. Mutations at the end of exon 6 account for approximately 50% of all Chinese HOGA1 mutations. Currently, the treatment of PH in China still relies mainly on symptomatic and high-throughput dialysis, with poor prognosis (especially for PH1 patients).

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Mutation Characteristics of Primary Hyperoxaluria in the Chinese Population and Current International Diagnosis and Treatment Status

Zhu,

Cheung,

Zhang

et al. 2024

Kidney Dis

View full text Add to dashboard Cite

show abstract

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Expanding the Genetic Spectrum of AGXT Gene Variants in Egyptian Patients with Primary Hyperoxaluria Type I

Cited by 1 publication

References 28 publications

Mutation Characteristics of Primary Hyperoxaluria in the Chinese Population and Current International Diagnosis and Treatment Status

Mutation Characteristics of Primary Hyperoxaluria in the Chinese Population and Current International Diagnosis and Treatment Status

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