ArticleKidney international reports2018
Cobalamin C Deficiency Induces a Typical Histopathological Pattern of Renal Arteriolar and Glomerular Thrombotic Microangiopathy.
Article in Kidney international reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 2 of them syntheses that pooled it.
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Who cites it
21 citing papers in PubMed, 2 syntheses or guidelines pooled it, 40 citations in OpenAlex.
- Late-onset methylmalonic acidemia and homocysteinemia (cblC disease): systematic review.Orphanet journal of rare diseases · 2024Pooled it
- Clinical, phenotypic and genetic landscape of case reports with genetically proven inherited disorders of vitamin BCell reports. Medicine · 2022Pooled it
- Advanced Ophthalmic Drug Delivery in Homocystinuria Type CblC: A Translational Review of Ophthalmic Pathologies and Therapeutic Opportunities.Pharmaceutics · 2026Review
- Review
- Thrombotic microangiopathy after kidney transplantation: diagnosis and management strategies.Clinical kidney journal · 2026Review
- Post-transplant Thrombotic Microangiopathy.Journal of the American Society of Nephrology : JASN · 2025Review
- Article
- Improved biochemical and neurodevelopmental profiles with high-dose hydroxocobalamin therapy in cobalamin C defect.Journal of inherited metabolic disease · 2025Article
- Late-onset renal TMA and tubular injury in cobalamin C disease: a report of three cases and literature review.BMC nephrology · 2024Review
- Renal Replacement Therapy in Methylmalonic Aciduria-Related Metabolic Failure: Case Report and Literature Review.Journal of clinical medicine · 2024Article
- Blood cytopenias as manifestations of inherited metabolic diseases: a narrative review.Orphanet journal of rare diseases · 2024Review
- Clinical and biochemical footprints of inherited metabolic disease. XVI. Hematological abnormalities.Molecular genetics and metabolism · 2023Review
- Genetic screening in thrombotic microangiopathy: a plea for methylmalonic aciduria with cobalamine C deficiency detection.Clinical kidney journal · 2023Article
- Versatile enzymology and heterogeneous phenotypes in cobalamin complementation type C disease.iScience · 2022Review
- Late-onset cblC deficiency around puberty: a retrospective study of the clinical characteristics, diagnosis, and treatment.Orphanet journal of rare diseases · 2022Article
- Epileptic syndrome with myoclonus as manifestation of adult-onset CblC deficiency.Journal of neurology · 2022Article
- Adult-onset CblC deficiency: a challenging diagnosis involving different adult clinical specialists.Orphanet journal of rare diseases · 2022Review
- Prominent renal complications associated withFrontiers in pediatrics · 2022Article
- Cobalamin c deficiency associated with antifactor h antibody-associated hemolytic uremic syndrome in a young adult.BMC nephrology · 2020Article
- High-dose hydroxocobalamin achieves biochemical correction and improvement of neuropsychiatric deficits in adults with late onset cobalamin C deficiency.JIMD reports · 2020Article
Corrections and comments
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Authors and funding
11 authors at 8 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionCobalamin C (cblC) deficiency is the most common inborn error of vitamin B
methodsWe performed a multicenter retrospective study including 7 patients with cblC deficiency and 16 matched controls with cblC-independent TMA. The patients included were aged 6 to 26 years at the time of the first manifestations. All patients presented with acute renal failure, proteinuria, and hemolysis; 5 patients required dialysis.
resultsThe histological study revealed arteriolar and glomerular TMA in all patients. After comparison with the cblC-independent TMA control group, a vacuolated aspect of the glomerular basement membrane and the intensity of glomerular capillary wall IgM deposits were more present in cblC deficiency patients than in controls. Six patients were treated with hydroxycobalamin. All of them improved, with disappearance of hemolysis, and 3 of the 4 patients requiring renal replacement therapy were weaned off dialysis.
conclusionThis study provides a precise description of kidney pathology in cblC deficiency. Due to major therapeutic implications, we suggest that patients with renal TMA be screened for cblC deficiency regardless of age, particularly when the kidney biopsy provides evidence of long-lasting TMA, including a vacuolated aspect of the glomerular basement membrane and glomerular capillary wall IgM deposition.
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