ArticleTherapeutics and clinical risk management2012
Extreme intrafamilial variability of Saudi brothers with primary hyperoxaluria type 1.
Article in Therapeutics and clinical risk management, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed.
- Intrafamilial Disease Heterogeneity in Primary Hyperoxaluria Type 1.Kidney international reports · 2024Article
- Primary hyperoxaluria: a case series.Journal of medical case reports · 2023Article
- Clinical and molecular characterization of a large primary hyperoxaluria cohort from Saudi Arabia: a retrospective study.Pediatric nephrology (Berlin, Germany) · 2023Article
- Primary hyperoxaluria type 1: report of the worldwide largest family.International urology and nephrology · 2022Article
- Improved Outcome of Infantile Oxalosis Over Time in Europe: Data From the OxalEurope Registry.Kidney international reports · 2022Article
- Clinical analysis of 13 children with primary hyperoxaluria type 1.Urolithiasis · 2021Article
- A case of failure to thrive secondary to primary hyperoxaluria type 1.Radiology case reports · 2020Article
- Primary hyperoxaluria Type 1: A case report in an extended family with a novel AGXT gene mutation.Medicine · 2020Article
- Two novel AGXT mutations identified in primary hyperoxaluria type-1 and distinct morphological and structural difference in kidney stones.Scientific reports · 2016Article
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4 authors.
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Abstract
backgroundPrimary hyperoxaluria type 1 (PH1) is characterized by progressive renal insufficiency culminating in end-stage renal disease, and a wide range of clinical features related to systemic oxalosis in different organs. It is caused by autosomal recessive deficiency of alanine:glyoxylate aminotransferase due to a defect in AGXT gene. CASE REPORT: Two brothers (one 6 months old; the other 2 years old) presented with acute renal failure and urinary tract infection respectively. PH1 was confirmed by high urinary oxalate level, demonstration of oxalate crystals in bone biopsy, and pathogenic homozygous known AGXT gene mutation. Despite the same genetic background, same sex, and shared environment, the outcome of the two siblings differs widely. While one of them died earlier with end-stage renal disease and multiorgan failure caused by systemic oxalosis, the older brother is pyridoxine responsive with normal development and renal function.
conclusionClinicians should be aware of extreme intrafamilial variability of PH1 and international registries are needed to characterize the genotype-phenotype correlation in such disorder.
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