ABSTRACT
The clinical data of maintenance hemodialysis (MHD) patients from twenty hemodialysis centers in Guizhou province from June to September 2020 were collected by cross-sectional study. The patients were divided into AFD group and non-AFD group according to whether AFD had occurred. LTI was measured by body composition monitor. The results showed that the incidence of AFD in 2 781 MHD patients was 30.0% (835/2 781). Median LTI level was 15.2 (13.2, 17.5) kg/m2. The LTI level in the AFD group was higher than that in the non-AFD group (P < 0.05). According to the tertiles of LTI, low LTI group (LTI ≤ 13.9 kg/m2) had the highest incidence of AFD (35.5%, 334/940), and the high LTI group had the lowest incidence of AFD (26.3%, 241/916), and the difference among the three groups was statistically significant (χ2=20.182,P < 0.001). Multivariate logistic regression analysis showed that low LTI group as the reference, the risk of AFD in moderate LTI group (13.9 kg/m2 < LTI ≤ 16.6 kg/m2) and high LTI group were associated with the 20.0% (OR=0.800, 95% CI 0.650-0.986, P=0.036) and 22.8% (OR=0.772, 95% CI 0.616-0.966, P=0.024) decrease, respectively. These results suggest that low LTI level is independently associated with an increased risk of AFD in MHD patients.
Subject(s)
Humans , Cross-Sectional Studies , Renal Dialysis/adverse effects , Body CompositionABSTRACT
OBJECTIVE: To study the relationship between red blood cell volume distribution width(RDW)and protein energy wasting(PEW)in maintenance hemodialysis(MHD)patients. METHODS: A multicenter cross-sectional study was conducted in eight hemodialysis centers of Guizhou province in 2018.Clinical data,laboratory values,physical parameters and body composition data of MHD patients were collected. According to the quartile of RDW,the patients were divided into four groups. The differences in the indexes among the 4 groups were compared.Logistic regression models were used to analyze the relationships between RDW and the occurance of PEW. The receiver operating characteristic curves(ROC)was applied to evaluate the predictive power of RDW for PEW. RESULTS: Totally 594 MHD patients were enrolled and were divided into 4 groups,value according to RDW quartile(Q1,Q2,Q3 and Q4). Logistic regression analysis showed that the occurance of PEW was correlated with RDW in MHD patients. The risk of PEW in MHD Q4 group was 2.583 times higher than that of the Q1 group(95%CI 1.588-4.202, P<0.001). After adjustment for patients' age, gender, DM history,dialysis age,hemoglobin, serum phosphorus, serum alanine aminotransferase and aspartate aminotransferase,the risk of Q4 group was 2.197 fold higher than that of Q1 group(95%CI 1.306-3.698, P<0.005). Recover operating characteristic(ROC)analysis showed that the optimal threshold for predicting PEW risks in MHD patients was 15.6% with a sensitivity and specificity of 40.35% and78.72% respectively and the area under curve was 0.611(95%CI 0.570-0.650,P<0.0001). CONCLUSION:s For MHD patients,RDW is associated with the occurance of PEW and has the value for PEW.
ABSTRACT
<p><b>OBJECTIVE</b>Fabry disease is a rare lysosome storage disease featuring X-linked recessive inheritance. The study was to explore potential mutations of alpha-galactosidase A (GLA) gene and their correlation with clinic manifestations in three Chinese pedigrees with Fabry disease.</p><p><b>METHODS</b>All exons and flanking sequences of GLA gene were amplified with PCR. Potential mutations were detected with bidirectional DNA sequencing. Correlation between particular mutations and clinic features were analyzed.</p><p><b>RESULTS</b>A unreported missense mutation, c.797A>C (D266A) in GLA exon 5 was identified in pedigree 1. Also in exon 5, a missense mutation c.644A>G (N215S) was found in pedigree 2. In pedigree 3, a nonsense mutation c.355C>T (Q119X) was found in exon 2. The c.797A>C mutation was not detected in 200 unrelated male controls. The probands of pedigrees 1 and 3 had presented mainly with skin damage and chronic renal insufficiency, whilst the proband of pedigree 2 had presented with hypertrophic cardiomyopathy.</p><p><b>CONCLUSION</b>The unreported c.797A>C (D266A) mutation is the sixth missense type mutation of the 266th codon of GLA gene, and all other 5 missense mutations reported previously had been confirmed to be responsible for Fabry disease. The c.797A>C mutation, not found in 200 unrelated male controls, may be the causative mutation in pedigree 1. The c.644A>G and c.355C>T mutations were first detected in Chinese patients. Variable phenotypes of Fabry disease may be in part attributed to the natures of particular mutations of GLA gene.</p>