Abstract

Only 4 % of hemodialysis (HD) patients survive over 25 years after their initiation of HD even in Japan. To elucidate their clinical characteristics, we investigated their lifestyle and genetic factor. TT genotype of methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism was reported as a high-risk factor for cardiovascular event and poor survival in CKD patients. Seventy-eight of Japanese patients receiving HD more than 30 years were enrolled. Their daily lifestyle and activity were evaluated with diet history questionnaires (DHQ), geriatric nutritional risk index (GNRI), and basic activity of daily living (BADL) scores. MTHFR C677T was genotyped by PCR-restriction fragment length polymorphism (RFLP). The mean dietary intake of energy was 30.6 ± 9.3 kcal/kg of ideal body weight (IBW), protein 1.1 ± 0.4 g/kg of IBW and their adequacy ratios for Japanese guideline 2007 were 97.7 and 101.9 %, respectively. BADL was 90, and daily activities were highly maintained in patients. The frequency of TT genotype was 26.9 % and it was almost twice as that in the general population. The patients with TT genotype had lower serum folate and higher serum homocysteine than those with the CC or CT genotypes, though there was no significant difference in dietary folate intake among them. Although the frequency of TT genotype was higher than healthy population, our patients showed longer survival with high QOL and nutritional status. It is suggested that the proper lifestyle might overcome the genetic risk factors in patients receiving HD.

Highlights

  • 4 % of hemodialysis (HD) patients survive over 25 years after their initiation of HD even in Japan

  • We investigated nutritional management during long-term hemodialysis which is considered as a risk factor for mortality, as association between methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism, which was based on the risks of renal dysfunction and introduction of dialysis

  • Many studies reported that MTHFR C677T polymorphism is a risk factor for nephropathy, and a significantly high frequency of the TT genotype in nephropathy patients was detected in a meta-analysis conducted by Yang et al [25]

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Summary

Introduction

4 % of hemodialysis (HD) patients survive over 25 years after their initiation of HD even in Japan. TT genotype of methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism was reported as a high-risk factor for cardiovascular event and poor survival in CKD patients. The MTHFR C677T polymorphisms is a C to T transition at position 677 (exon4), which causes the substitution of alanine with valine and leads to about 35 % decrease in enzyme activity in CT heterozygotes and 60 % decrease in TT homozygotes [8] This reduced enzyme activity causes an elevating serum Hcy level [8]. The associations of this polymorphism to hyperhomocysteinemia and cardiovascular disease have been reported. The frequency of the TT genotype was 13.7 % in a study of hemodialysis patients, and it was higher (23.8 %) in patients with a cardiovascular disorder, showing that the MTHFR polymorphism is an important factor that influences the serum Hcy level [10, 11]. There have been only a few studies of Japanese patient with renal failure and hemodialysis patients, and the MTHFR C677T polymorphism has not been investigated in longterm hemodialysis patients

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