ArticleClinical kidney journal2018
Renal thrombotic microangiopathy and pulmonary arterial hypertension in a patient with late-onset cobalamin C deficiency.
Article in Clinical kidney journal, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 2 of them syntheses that pooled it.
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Who cites it
10 citing papers in PubMed, 2 syntheses or guidelines pooled it, 17 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
- Cobalamin C deficiency: a rare but treatable genetic cause of pulmonary hypertension.Orphanet journal of rare diseases · 2025Article
- Spectrum of genetic mutations in methylmalonic aciduria among Iranian patients.Scientific reports · 2025Article
- Adult-onset combined methylmalonic acidemia and hyperhomocysteinemia, cblC type with aortic dissection and acute kidney injury: a case report.BMC nephrology · 2024Article
- Chronic Kidney Disease and Heart Failure-Everyday Diagnostic Challenges.Diagnostics (Basel, Switzerland) · 2021Review
- Adult-onset hypoxaemia, diffuse lung lesions, and pulmonary hypertension in cobalamin C defect: a case report.European heart journal. Case reports · 2021Article
- Pulmonary hypertension in late-onset Methylmalonic Aciduria and Homocystinemia: a case report.BMC pediatrics · 2020Article
- Pulmonary Hypertension Subtypes and Mortality in CKD.American journal of kidney diseases : the official journal of the National Kidney Foundation · 2020Observational
- Hereditary defect of cobalamin metabolism with adolescence onset resembling multiple sclerosis: 41-year follow up in two cases.Therapeutic advances in neurological disorders · 2019Article
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Authors and funding
8 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Cobalamin C (cblC) deficiency is the most commonly inherited inborn error of vitamin B12 metabolism. It is characterized by multisystem involvement with severe neurological, hematological, renal and cardiopulmonary manifestations. Disease is most commonly diagnosed early in the first decade of life. We report a case of a 20-year-old woman who developed severe pulmonary arterial hypertension while under nephrologic follow-up for chronic kidney disease. She had initially presented at 14 years of age with visual disturbance and acute renal failure and been diagnosed with thrombotic thrombocytopenic purpura on the basis of kidney biopsy findings of thrombotic microangiopathy and compatible ADAMTS13 (a disentegrin and metalloproteinase with a thrombospondin type 1 motif member 13). When cblC deficiency was eventually diagnosed, remarkable improvement in cardiopulmonary function was evident upon initiation of treatment. This case highlights the importance of a timely diagnosis and initiation of treatment for cblC deficiency. Clinical diagnosis may be challenged by asynchronous organ symptom presentation and by misleading laboratory tests, in this case: an initial low ADAMTS13. A simple test of plasma homocysteine level should be encouraged in cases of thrombotic microangiopathy and/or pulmonary artery hypertension.
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