Homocysteine, folate, vitamin B12 levels, and C677T MTHFR mutation in children with renal failure

Alberto Canepa, Alba Carrea, Gianluca Caridi, Laura Dertenois, Giuseppe Minniti, Roberto Cerone, Silvana Canini, Maria Grazia Calevo, Francesco Perfumo

Research output: Contribution to journalArticlepeer-review


Hyperhomocysteinemia is well documented in chronic renal failure (CRF) and premature and progressive occlusive vascular disease is common in CRF. The combined effects of renal failure, folate and vitamin B12 levels, and a common mutation (C677T) in the methylenetetrahydrofolate reductase (MTHFR) gene that leads to total plasma homocysteine (tHcy) elevation in CRF children were investigated. Forty-two children (15 females) with CRF, mean age 10.3±4.7 years, were included. The mean glomerular filtration rate (GFR) was 37.3±16.9 ml/min per 1.73 m2. The control group comprised 33 children (18 females) with a mean age of 8.6±3.4 years. There were 40% of CRF patients with hyperhomocysteinemia. Folate and vitamin B12 deficiencies were identified in 14% (n=6) and 5% (n=2), respectively, of all patients. On univariate analysis, the tHcy serum concentration was negatively correlated with the plasma folate concentration (P12 were significant in controls, whereas only GFR was significant in CRF children. In our patients no effect of the MTHFR polymorphism on tHcy levels was seen This result, in addition to the limited number of patients, may partially be explained by the low prevalence of folate deficiency in our patients.

Original languageEnglish
Pages (from-to)225-229
Number of pages5
JournalPediatric Nephrology
Issue number3
Publication statusPublished - Mar 1 2003


  • Chronic renal failure
  • Folate
  • Homocysteine
  • MTHFR polymorphism

ASJC Scopus subject areas

  • Nephrology
  • Pediatrics, Perinatology, and Child Health


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