ArticleBMC nephrology2017
Unusual clinical outcome of primary Hyperoxaluria type 1 in Tunisian patients carrying 33_34InsC mutation.
Article in BMC nephrology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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10 citing papers in PubMed, 13 citations in OpenAlex.
- Hyperoxaluria by the AGXT gene: a case report.Journal of medical case reports · 2026Article
- 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
- Second transplantation after kidney graft loss in primary hyperoxaluria type 2: a pedigree study and mutation analysis.Renal failure · 2024Article
- Intrafamilial Disease Heterogeneity in Primary Hyperoxaluria Type 1.Kidney international reports · 2024Article
- Case series and literature review of primary hyperoxaluria type 1 in Chinese patients.Urolithiasis · 2023Article
- Genotype and Phenotype Characteristics of Chinese Pediatric Patients with Primary Hyperoxaluria.Human mutation · 2023Article
- Four novel variants identified in primary hyperoxaluria and genotypic and phenotypic analysis in 21 Chinese patients.Frontiers in genetics · 2023Article
- Primary Hyperoxaluria Type 1: Clinical, Paraclinical, and Evolutionary Aspects in Adults from One Nephrology Center.International journal of nephrology · 2023Article
- Article
- Characteristics of the genotype and phenotype in Chinese primary hyperoxaluria type 1 populations.Urolithiasis · 2021Observational
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Authors and funding
10 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPrimary hyperoxaluria type 1 (PH1), is a rare and heterogeneous disease and one of major causes of renal insufficiency in Tunisia, caused by mutations in the AGXT gene. 33-34InsC mutation, was mainly described in children with a severe clinical feature leading to early death, but it was uncommonly reported in adult patients.
methodsCommon mutations in AGXT were tested using PCR/RFLP technique in 111 patients (68 adult, 43 children) with suspected PH1.
resultsWe described 16 cases (eight adult and eight children) with a 33-34InsC mutation with a median age of 24 years [6 months - 73 years]. All children were in end stage renal disease (ESRD) at the median age of 3 years due to lithiasis and/or nephrocalcinosis. Unfortunately, 75% of them died with a median age of 2.5 years. For the majority of adults only spontaneous elimination of urolithiasis were noted, 37.5% preserved until now a normal renal function and 62.5% of them reached ESRD at the median age of 55.8 ± 12.31 years old.
conclusionIn this study 33-34InsC mutation gives a controversial clinical effect in children and adults. The implication of other genetic and/or environmental factors can play a crucial role in determining the ultimate phenotype.
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