ArticleInternational journal of nephrology2015
Primary hyperoxaluria type 1 in 18 children: genotyping and outcome.
Article in International journal of nephrology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
What it found
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 27 citations in OpenAlex.
- Transplantation outcomes in patients with primary hyperoxaluria: a systematic review.Pediatric nephrology (Berlin, Germany) · 2021Pooled it
- Mutational Landscape of Primary Hyperoxaluria in Morocco: Update and Implications for Diagnosis.Genes · 2026Article
- Childhood Hypertension: A Retrospective Analysis of Causes, Treatments, and Complications.Children (Basel, Switzerland) · 2024Article
- Article
- Primary hyperoxaluria type 1 in children: clinical and laboratory manifestations and outcome.Pediatric nephrology (Berlin, Germany) · 2023Observational
- Clinical practice recommendations for primary hyperoxaluria: an expert consensus statement from ERKNet and OxalEurope.Nature reviews. Nephrology · 2023Review
- Next-generation sequencing in identification of pathogenic variants in primary hyperoxaluria among 21 Egyptian families: Identification of two novel AGXT gene mutations.Molecular genetics & genomic medicine · 2022Article
- Primary hyperoxaluria type 1 in developing countries: novel challenges in a new therapeutic era.Clinical kidney journal · 2022Review
- Clinical analysis of 13 children with primary hyperoxaluria type 1.Urolithiasis · 2021Article
- Molecular analysis of the AGXT gene in Syrian patients suspected with primary hyperoxaluria type 1.BMC medical genomics · 2021Article
- A novel nonsense variant of the AGXT identified in a Chinese family: special variant research in the Chinese reference genome.BMC nephrology · 2021Article
- Characteristics of the genotype and phenotype in Chinese primary hyperoxaluria type 1 populations.Urolithiasis · 2021Observational
- Epidemiology and Outcome of CKD in Omani Children.Kidney international reports · 2019Article
- Two novel AGXT mutations identified in primary hyperoxaluria type-1 and distinct morphological and structural difference in kidney stones.Scientific reports · 2016Article
- Monogenic urinary lithiasis in Tunisian children: 25 years' experience of a referral center.La Tunisie medicaleObservational
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background. Primary hyperoxaluria belongs to a group of rare metabolic disorders with autosomal recessive inheritance. It results from genetic mutations of the AGXT gene, which is more common due to higher consanguinity rates in the developing countries. Clinical features at presentation are heterogeneous even in children from the same family; this study was conducted to determine the clinical characteristics, type of AGXT mutation, and outcome in children diagnosed with PH1 at a tertiary referral center in Oman. Method. Retrospective review of children diagnosed with PH1 at a tertiary hospital in Oman from 2000 to 2013. Result. Total of 18 children were identified. Females composed 61% of the children with median presentation age of 7 months. Severe renal failure was initial presentation in 39% and 22% presented with nephrocalcinosis and/or renal calculi. Family screening diagnosed 39% of patients. Fifty percent of the children underwent hemodialysis. 28% of children underwent organ transplantation. The most common mutation found in Omani children was c.33-34insC mutation in the AGXT gene. Conclusion. Due to consanguinity, PH1 is a common cause of ESRD in Omani children. Genetic testing is recommended to help in family counseling and helps in decreasing the incidence and disease burden; it also could be utilized for premarital screening.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.