Author/Authors :
Castillo, Rafael Fernández Department of Nephrology - Academic Medical Centre Virgen de las Nieves - Granada, Spain , Esteban de la Rosa, Rafael J Department of Nephrology - Academic Medical Centre Virgen de las Nieves - Granada, Spain , Duran, Susana Ruiz Department of Nephrology - Academic Medical Centre Virgen de las Nieves - Granada, Spain , Baca, Yolanda Department of Nephrology - Academic Medical Centre Virgen de las Nieves - Granada, Spain , Gallegos, Ruth Fernández Department of Nephrology - Academic Medical Centre Virgen de las Nieves - Granada, Spain , Martínez, Margarita Clinical Laboratory - Academic Medical Centre Virgen de las Nieves - Granada, Spain , Perán, Fernando Clinical Laboratory - Academic Medical Centre Virgen de las Nieves - Granada, Spain , Pedrinaci, Susana Clinical Laboratory - Academic Medical Centre Virgen de las Nieves - Granada, Spain , Bravo, Juan A Department of Nephrology - Academic Medical Centre Virgen de las Nieves - Granada, Spain
Abstract :
Background and Aims: Homocysteine is a sulphur amino acid derived from methionine. Epidemiological
studies show an association between hyperhomocysteinemia and an increased cardiovascular risk, a fact
that has also been confirmed in patients with chronic renal failure. This study, conducted in stage 5 chronic
kidney disease patients, seeks to define the prevalence of hyperhomocysteinemia, evaluate the clearance
of homocysteine with dialysis, and describe the frequency of the mutation in the mutilen-tetrahydrofolate
reductase enzyme and its relationship with plasma levels of homocysteine.
Methods: The reduced percentage of homocysteine and clearance of urea were analysed every six months
for seven years in patients on dialysis. Urea and total homocysteine in plasma were measured in each of
these studies and the type of dialyser - low or high permeability - used and the dialysis duration was determined.
A molecular study of the gene coding for mutilen-tetrahydrofolate reductase enzyme was carried out
in a group of patients and any C-T point mutation at position 677 of this gene was investigated. Mutation was
described as not present, heterozygous for this mutation or homozygous for lactation.
Results: Neither the average levels of homocysteine before and after dialysis or the reduction percentage
of homocysteine varied with gender, although purification of urea was higher in women. Comparisons of
homocysteine levels and percentage reduction in this ratio according to the ultra filtration of the dialyser
used showed significant results. The molecular study of the gene in mutilen-tetrahydrofolate reductase
enzyme showed that mutation was present in 54.8%: 45.2% with heterozygous polymorphism and 9.7%
with homozygous.
Conclusions: Patients undergoing hemodialysis were found to have higher levels of urea and its clearance
was greater with the higher the ratio of ultra filtration dialyser. Mutation of the gene in mutilen-tetrahydrofolate
reductase enzyme was similar in our patients compared to the general population and had no impact on
plasma levels of homocysteine.
Keywords :
End Stage Renal Disease , Hemodialysis , Hyperhomocysteinemia , MTHFR , Uremia