ArticlePediatric nephrology (Berlin, Germany)2012
Neonatal atypical hemolytic uremic syndrome due to methylmalonic aciduria and homocystinuria.
Article in Pediatric nephrology (Berlin, Germany), 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.
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Who cites it
17 citing papers in PubMed, 1 synthesis or guideline pooled it, 45 citations in OpenAlex.
- Clinical, phenotypic and genetic landscape of case reports with genetically proven inherited disorders of vitamin BCell reports. Medicine · 2022Pooled it
- Prominent renal complications associated withFrontiers in pediatrics · 2022Article
- Hemolytic Uremic Syndrome Due to Methylmalonic Acidemia and Homocystinuria in an Infant: A Case Report and Literature Review.Children (Basel, Switzerland) · 2021Article
- Utilizing the Food-Pathogen Metabolome to Putatively Identify Biomarkers for the Detection of Shiga Toxin-ProducingMetabolites · 2021Article
- Proteinuria as a presenting sign of combined methylmalonic acidemia and homocysteinemia: case report.BMC medical genetics · 2020Article
- Parenteral hydroxocobalamin dose intensification in five patients with different types of early onset intracellular cobalamin defects: Clinical and biochemical responses.JIMD reports · 2019Article
- Identification of serum metabolites associating with chronic kidney disease progression and anti-fibrotic effect of 5-methoxytryptophan.Nature communications · 2019 · on this mapArticle
- A child presenting with severe hypertension and circulatory failure-a diagnostic conundrum: Answers.Pediatric nephrology (Berlin, Germany) · 2017Article
- Thrombotic microangiopathy caused by methionine synthase deficiency: diagnosis and treatment pitfalls.Pediatric nephrology (Berlin, Germany) · 2017Article
- Renal thrombotic microangiopathy in patients with cblC defect: review of an under-recognized entity.Pediatric nephrology (Berlin, Germany) · 2017Review
- Late Onset Cobalamin Disorder and Hemolytic Uremic Syndrome: A Rare Cause of Nephrotic Syndrome.Case reports in pediatrics · 2017Article
- Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.Journal of inherited metabolic disease · 2017Review
- An international consensus approach to the management of atypical hemolytic uremic syndrome in children.Pediatric nephrology (Berlin, Germany) · 2016Review
- Nephrotic syndrome and thrombotic microangiopathy caused by cobalamin C deficiency.Pediatric nephrology (Berlin, Germany) · 2015Article
- Remission of aHUS neurological damage with eculizumab.Clinical kidney journal · 2015Article
- Current treatment of atypical hemolytic uremic syndrome.Intractable & rare diseases research · 2014Review
- Neonatal onset atypical hemolytic uremic syndrome successfully treated with eculizumab.Pediatric nephrology (Berlin, Germany) · 2013Article
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundInborn errors of cobalamin (Cbl) absorption and metabolism form a large group of rare diseases that include Cbl-C disorder. Among the renal complications of Cbl-C disorder, atypical hemolytic uremic syndrome (HUS) is the least common and has been described only in a small number of cases. CASE-DIAGNOSIS/TREATMENT: Four patients were admitted to our clinic after 15-30 days of life with vomiting associated with poor sucking, failure to thrive, lethargy and hypotonia. Examinations showed thrombocytopenia and microangiopathic hemolytic anemia associated with renal damage. The neonates had high blood homocysteine levels, increased urinary levels of both homocystine and methylmalonic acid, increased propionylcarnitine (C3) levels and an increased C3/acetylcarnitine ratio. Homozygosity for c.271-272dupA (p.Arg91LysfsX14) of the MMACHC gene was detected in three patients, and heterozygosity for c.271-272dupA and c.666C > A(p.Tyr222X) in one patient, which confirmed the diagnosis of Cbl-C disorder. Treatment with parenteral hydroxycobalamin in combination with folic acid and betaine gradually normalized the metabolic test findings and hematological and renal parameters after about 1 week.
conclusionsAtypical HUS in neonates with Cbl-C disorder may be associated with mild to moderate renal involvement also in early-onset disease, and early adequate therapy can reverse renal damage.
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