ArticleScientific reports2022
Clinical and molecular characterization of primary hyperoxaluria in Egypt.
Article in Scientific reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
What it found
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The trial behind it
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Who cites it
8 citing papers in PubMed.
- Clinical Approaches and Emerging Therapeutic Horizons in Primary Hyperoxaluria.Journal of clinical medicine · 2026Review
- Primary hyperoxaluria: insights into its clinical presentation, genetic mutations, and transplantation outcomes in a pediatric population in a tertiary care center.Orphanet journal of rare diseases · 2025Article
- Egypt Genome: Towards an African new genomic era.Journal of advanced research · 2025Review
- Infant primary hyperoxaluria type 1Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences · 2024Review
- Targeting the Liver with Nucleic Acid Therapeutics for the Treatment of Systemic Diseases of Liver Origin.Pharmacological reviews · 2023Review
- Primary hyperoxaluria type 1 in children: clinical and laboratory manifestations and outcome.Pediatric nephrology (Berlin, Germany) · 2023Observational
- Article
- Clinical practice recommendations for primary hyperoxaluria: an expert consensus statement from ERKNet and OxalEurope.Nature reviews. Nephrology · 2023Review
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Authors and funding
8 authors.
Funding
Abstract
Primary hyperoxaluria (PH) is an autosomal recessive disorder of oxalate metabolism caused by pathogenic variants in either of three genes (AGXT, GRHPR or HOGA1). The study aimed at characterizing the clinical phenotypes as well as the genotypic spectrum of PH in Egypt. We screened 25 Egyptian patients suspected of PH for the three responsible genes by Sanger sequencing. We diagnosed 20 patients from 18 unrelated families, in which the natural history, family history, clinical features and genotypes were evaluated. PH patients were 15 males and 5 females ranging in age from 4 months to 31 years (median 8 years). Fifteen families were consanguineous (83%) and familial clustering was reported in six families (33%). Pathogenic variants in all 40 alleles were in AGXT, with none detected in GRHPR or HOGA1. We detected two novel pathogenic variants c.166-1_172dupGATCATGG (p.Asp58Glyfs*65) and c.766delC (p.Gln256fs*16) and seven previously reported variants in our cohort. This is the first study reporting the genotype of a considerable number of PH1 patients from Egypt. Our detected variants in the AGXT gene could form the basis for future genetic counseling and prenatal diagnosis in Egypt and surrounding populations.
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Registered trials
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