Screening of family members of chronic kidney disease patients with Fabry disease mutations: a very important and underrated task

ABSTRACT Introduction: Fabry disease is a chronic, progressive, and multi-system hereditary condition, related to an Xq22 mutation in X chromosome, which results in deficiency of alpha-galactosidase enzyme, hence reduced capacity of globotriaosylceramide degradation. Objectives: to evaluate the prevalence of Fabry disease (FD) mutations, as well as its signs and symptoms, among relatives of chronic kidney disease (CKD) patients diagnosed with FD during a previously conducted study, named “Clinical and epidemiological analysis of Fabry disease in dialysis centers in Brazil”. Methods: a cross-sectional study was carried out, and data was collected by interviewing the relatives of patients enrolled in the Brazil Fabry Kidney Project and blood tests for both Gb3 dosage and genetic testing. Results: Among 1214 interviewed relatives, 115 (9.47%) were diagnosed with FD, with a predominance of women (66.10%). The most prevalent comorbidities were rheumatologic conditions and systemic hypertension (1.7% each), followed by heart, neurological, cerebrovascular diseases, and depression in 0.9% of individuals. Intolerance to physical exercise and tiredness were the most observed symptoms (1.7%), followed by periodic fever, intolerance to heat or cold, diffuse pain, burn sensation or numbness in hands and feet, reduced or absent sweating, as well as abdominal pain after meals in 0.9%. Conclusion: We found a prevalence of Fabry disease in 9.47% of relatives of CKD patients with this condition, remarkably with a 66.1% predominance of women, which contrasts with previous reports. The screening of family members of FD patients is important, since it can lead to early diagnosis and treatment, thus allowing better quality of life and improved clinical outcomes for these individuals.

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Prevalence of chronic kidney disease in fabry disease patients: Multicenter cross sectional study in Argentina

Molecular Genetics and Metabolism Reports ◽

10.1016/j.ymgmr.2017.05.007 ◽

2017 ◽

Vol 12 ◽

pp. 41-43 ◽

Cited By ~ 8

Author(s):

Sebastián Jaurretche ◽

Norberto Antongiovanni ◽

Fernando Perretta

Keyword(s):

Chronic Kidney Disease ◽

Kidney Disease ◽

Fabry Disease ◽

Cross Sectional Study ◽

Sectional Study ◽

Cross Sectional

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Stroke in chronic renal failure

Orvosi Hetilap ◽

10.1556/oh.2008.28292 ◽

2008 ◽

Vol 149 (15) ◽

pp. 691-696

Author(s):

Dániel Bereczki

Keyword(s):

Risk Factors ◽

Chronic Kidney Disease ◽

Kidney Disease ◽

Renal Disease ◽

Chronic Renal Disease ◽

Kidney Diseases ◽

Cerebrovascular Diseases ◽

Lipid Lowering ◽

Increased Risk ◽

Intracerebral Hemorrhages

Chronic kidney diseases and cardiovascular diseases have several common risk factors like hypertension and diabetes. In chronic renal disease stroke risk is several times higher than in the average population. The combination of classical risk factors and those characteristic of chronic kidney disease might explain this increased risk. Among acute cerebrovascular diseases intracerebral hemorrhages are more frequent than in those with normal kidney function. The outcome of stroke is worse in chronic kidney disease. The treatment of stroke (thrombolysis, antiplatelet and anticoagulant treatment, statins, etc.) is an area of clinical research in this patient group. There are no reliable data on the application of thrombolysis in acute stroke in patients with chronic renal disease. Aspirin might be administered. Carefulness, individual considerations and lower doses might be appropriate when using other treatments. The condition of the kidney as well as other associated diseases should be considered during administration of antihypertensive and lipid lowering medications.

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HUBUNGAN EFIKASI DIRI DENGAN KUALITAS HIDUP PASIEN GAGAL GINJAL KRONIK YANG MENJALANI HEMODIALISIS

Journal of Holistic Nursing Science ◽

10.31603/nursing.v5i2.2430 ◽

2018 ◽

Vol 5 (2) ◽

pp. 56-63

Author(s):

Abdul Wakhid ◽

Estri Linda Wijayanti ◽

Liyanovitasari Liyanovitasari

Keyword(s):

Quality Of Life ◽

Chronic Kidney Disease ◽

Kidney Disease ◽

Self Efficacy ◽

Healing Process ◽

Sampling Technique ◽

P Value ◽

Cross Sectional ◽

Kolmogorov Smirnov

Background: Self efficacy can optimize the quality of life of clients who undergo the healing process due to chronic diseases. Individuals with higher self-efficacy move their personal and social resources proactively to maintain and improve the quality and length of their lives so that they experience a better quality of life. Objectives: the purpose of this study was to find the correlation between self efficacy and quality of life of patients with chronic kidney disease who undergo hemodialysis at RSUD Semarang Regency. Metode: This type of research was descriptive correlation with cross sectional approach. The samples in this study more 76 people with total sampling technique. The data collection tool for self efficacy was measured by General Self-Efficacy scale, for quality of life with WHOQoL-BREF. Statistical test used Kolmogorov-smirnov. Result: The result showed that self efficacy in patients with chronic kidney disease was mostly in moderate category (53,9%), quality of life in patients with chronic kidney disease was mostly in good category (68,4%). There was a correlation between self efficacy and quality of life of patients with chronic kidney disease who undergo hemodialysis at RSUD Semarang Regency, the result obtained p-value of 0.000 <α (0,05). Suggestion: Patients with chronic kidney disease can maintain good quality of life by helping to generate positive self-esteem and high self efficacy.

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Elevated alanine aminotransferase and low aspartate aminotransferase/alanine aminotransferase ratio are associated with chronic kidney disease among middle-aged women: a cross-sectional study

BMC Nephrology ◽

10.1186/s12882-020-02144-6 ◽

2020 ◽

Vol 21 (1) ◽

Author(s):

Hirotaka Ochiai ◽

Takako Shirasawa ◽

Takahiko Yoshimoto ◽

Satsue Nagahama ◽

Akihiro Watanabe ◽

...

Keyword(s):

Chronic Kidney Disease ◽

Kidney Disease ◽

Aspartate Aminotransferase ◽

Alanine Aminotransferase ◽

Venous Blood ◽

Cross Sectional Study ◽

Middle Aged ◽

Cross Sectional ◽

Alcoholic Fatty Liver ◽

Relationship Of

Abstract Background Alanine aminotransferase (ALT) and aspartate aminotransferase (AST) to ALT ratio (AST/ALT ratio) have been shown to be related to non-alcoholic fatty liver disease or insulin resistance, which was associated with chronic kidney disease (CKD). However, it is unclear whether ALT and AST/ALT ratio are associated with CKD. In this study, we examined the relationship of ALT and AST/ALT ratio to CKD among middle-aged females in Japan. Methods The present study included 29,133 women aged 40 to 64 years who had an annual health checkup in Japan during April 2013 to March 2014. Venous blood samples were collected to measure ALT, AST, gamma-glutamyltransferase (GGT), and creatinine levels. In accordance with previous studies, ALT > 40 U/L and GGT > 50 U/L were determined as elevated, AST/ALT ratio < 1 was regarded as low, and CKD was defined as estimated glomerular filtration rate < 60 mL/min/1.73 m2 and/or proteinuria. Logistic regression model was used to calculate the odds ratio (OR) and 95% confidence interval (CI) for CKD. Results “Elevated ALT and elevated GGT” and “elevated ALT and non-elevated GGT” significantly increased the OR for CKD when compared with “non-elevated ALT and non-elevated GGT” (OR: 2.56, 95% CI: 2.10–3.12 and OR: 2.24, 95% CI: 1.81–2.77). Compared with “AST/ALT ratio ≥ 1 and non-elevated GGT”, “AST/ALT ratio < 1 and elevated GGT” and “AST/ALT ratio < 1 and non-elevated GGT” significantly increased the OR for CKD (OR: 2.73, 95% CI: 2.36–3.15 and OR: 1.68, 95% CI: 1.52–1.87). These findings still remained after adjustment for confounders. Conclusions Elevated ALT was associated with CKD regardless of GGT elevation. Moreover, low AST/ALT ratio was also associated with CKD independent of GGT elevation.

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Left ventricular global longitudinal strain in chronic kidney disease patients with and without renal replacement therapy: A cross-sectional study

Indian Heart Journal ◽

10.1016/j.ihj.2020.11.074 ◽

2020 ◽

Vol 72 ◽

pp. S26

Author(s):

Ramesh Sankaran ◽

S. Ramalakshmi ◽

Manish Babbu Uppupetai Ganeshbabbu ◽

M. Jayakumar ◽

T.R. Muralidharan ◽

...

Keyword(s):

Chronic Kidney Disease ◽

Renal Replacement Therapy ◽

Kidney Disease ◽

Replacement Therapy ◽

Longitudinal Strain ◽

Global Longitudinal Strain ◽

Cross Sectional Study ◽

Left Ventricular ◽

Sectional Study ◽

Cross Sectional

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Heart Rate Variability and Long Chain n-3 Polyunsaturated Fatty Acids in Chronic Kidney Disease Patients on Haemodialysis: A Cross-Sectional Pilot Study

Nutrients ◽

10.3390/nu13072453 ◽

2021 ◽

Vol 13 (7) ◽

pp. 2453

Author(s):

Ana M Pinto ◽

Helen L MacLaughlin ◽

Wendy L Hall

Keyword(s):

Chronic Kidney Disease ◽

Fatty Acids ◽

Heart Rate ◽

Heart Rate Variability ◽

Kidney Disease ◽

Polyunsaturated Fatty Acids ◽

Cardiac Death ◽

Cross Sectional ◽

Ckd Stage ◽

Long Chain

Low heart rate variability (HRV) is independently associated with increased risk of sudden cardiac death (SCD) and all cardiac death in haemodialysis patients. Long chain n-3 polyunsaturated fatty acids (LC n-3 PUFA) may exert anti-arrhythmic effects. This study aimed to investigate relationships between dialysis, sleep and 24 h HRV and LC n-3 PUFA status in patients who have recently commenced haemodialysis. A cross-sectional study was conducted in adults aged 40–80 with chronic kidney disease (CKD) stage 5 (n = 45, mean age 58, SD 9, 20 females and 25 males, 39% with type 2 diabetes). Pre-dialysis blood samples were taken to measure erythrocyte and plasma fatty acid composition (wt % fatty acids). Mean erythrocyte omega-3 index was not associated with HRV following adjustment for age, BMI and use of β-blocker medication. Higher ratios of erythrocyte eicosapentaenoic acid (EPA) to docosahexaenoic acid (DHA) were associated with lower 24 h vagally-mediated beat-to-beat HRV parameters. Higher plasma EPA and docosapentaenoic acid (DPAn-3) were also associated with lower sleep-time and 24 h beat-to-beat variability. In contrast, higher plasma EPA was significantly related to higher overall and longer phase components of 24 h HRV. Further investigation is required to investigate whether patients commencing haemodialysis may have compromised conversion of EPA to DHA, which may impair vagally-mediated regulation of cardiac autonomic function, increasing risk of SCD.

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Gut Microbiome Composition Remains Stable in Individuals with Diabetes-Related Early to Late Stage Chronic Kidney Disease

Biomedicines ◽

10.3390/biomedicines9010019 ◽

2020 ◽

Vol 9 (1) ◽

pp. 19

Author(s):

Ashani Lecamwasam ◽

Tiffanie M. Nelson ◽

Leni Rivera ◽

Elif I. Ekinci ◽

Richard Saffery ◽

...

Keyword(s):

Chronic Kidney Disease ◽

Kidney Disease ◽

Relative Abundance ◽

Cross Sectional Study ◽

Early Event ◽

Sectional Study ◽

Cross Sectional ◽

Microbiome Composition ◽

Stool Samples ◽

Late Stages

(1) Background: Individuals with diabetes and chronic kidney disease display gut dysbiosis when compared to healthy controls. However, it is unknown whether there is a change in dysbiosis across the stages of diabetic chronic kidney disease. We investigated a cross-sectional study of patients with early and late diabetes associated chronic kidney disease to identify possible microbial differences between these two groups and across each of the stages of diabetic chronic kidney disease. (2) Methods: This cross-sectional study recruited 95 adults. DNA extracted from collected stool samples were used for 16S rRNA sequencing to identify the bacterial community in the gut. (3) Results: The phylum Firmicutes was the most abundant and its mean relative abundance was similar in the early and late chronic kidney disease group, 45.99 ± 0.58% and 49.39 ± 0.55%, respectively. The mean relative abundance for family Bacteroidaceae, was also similar in the early and late group, 29.15 ± 2.02% and 29.16 ± 1.70%, respectively. The lower abundance of Prevotellaceae remained similar across both the early 3.87 ± 1.66% and late 3.36 ± 0.98% diabetic chronic kidney disease groups. (4) Conclusions: The data arising from our cohort of individuals with diabetes associated chronic kidney disease show a predominance of phyla Firmicutes and Bacteroidetes. The families Ruminococcaceae and Bacteroidaceae represent the highest abundance, while the beneficial Prevotellaceae family were reduced in abundance. The most interesting observation is that the relative abundance of these gut microbes does not change across the early and late stages of diabetic chronic kidney disease, suggesting that this is an early event in the development of diabetes associated chronic kidney disease. We hypothesise that the dysbiotic microbiome acquired during the early stages of diabetic chronic kidney disease remains relatively stable and is only one of many risk factors that influence progressive kidney dysfunction.

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FGF-23 and Phosphate in Children with Chronic Kidney Disease: A Cross-Sectional Study in Kazakhstan

Medicina ◽

10.3390/medicina57010015 ◽

2020 ◽

Vol 57 (1) ◽

pp. 15

Author(s):

Altynay Balmukhanova ◽

Kairat Kabulbayev ◽

Harika Alpay ◽

Assiya Kanatbayeva ◽

Aigul Balmukhanova

Keyword(s):

Chronic Kidney Disease ◽

Kidney Disease ◽

Fibroblast Growth Factor 23 ◽

Cross Sectional Study ◽

Sectional Study ◽

Cross Sectional ◽

Ckd Stage ◽

Advanced Stages ◽

Fgf 23 ◽

Stage 1

Background and objectives: Chronic kidney disease (CKD) in children is a complex medical and social issue around the world. One of the serious complications is mineral-bone disorder (CKD-MBD) which might determine the prognosis of patients and their quality of life. Fibroblast growth factor 23 (FGF-23) is a phosphaturic hormone which is involved in the pathogenesis of CKD-MBD. The purpose of the study was to determine what comes first in children with CKD: FGF-23 or phosphate. Materials and Methods: This cross-sectional study included 73 children aged 2–18 years with CKD stages 1–5. We measured FGF-23 and other bone markers in blood samples and studied their associations. Results: Early elevations of FGF-23 were identified in children with CKD stage 2 compared with stage 1 (1.6 (1.5–1.8) pmol/L versus 0.65 (0.22–1.08), p = 0.029). There were significant differences between the advanced stages of the disease. FGF-23 correlated with PTH (r = 0.807, p = 0.000) and phosphate (r = 0.473, p = 0.000). Our study revealed that the elevated level of FGF-23 went ahead hyperphosphatemia and elevated PTH. Thus, more than 50% of children with CKD stage 2 had the elevating level of serum FGF-23, and that index became increasing with the disease progression and it achieved 100% at the dialysis stage. The serum phosphate increased more slowly and only 70.6% of children with CKD stage 5 had the increased values. The PTH increase was more dynamic. Conclusions: FGF-23 is an essential biomarker, elevates long before other markers of bone metabolism (phosphate), and might represent a clinical course of disease.

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