scholarly journals GENETIC KIDNEY DISEASES AS AN UNDERECOGNIZED CAUSE OF CHRONIC KIDNEY DISEASE: THE KEY ROLE OF INTERNATIONAL REGISTRY REPORTS

2021 ◽  
Author(s):  
Roser Torra ◽  
Mónica Furlano ◽  
Alberto Ortiz ◽  
Elisabet Ars
Keyword(s):  
Chronic Kidney Disease ◽  
Kidney Disease ◽  
Kidney Diseases ◽  
Unknown Etiology ◽  
Correct Treatment ◽  
Monogenic Diseases ◽  
High Prevalence ◽  
Incorrect Diagnosis ◽  
Kidney Replacement Therapy

Abstract Inherited kidney diseases (IKDs) are among the leading causes of early-onset chronic kidney disease (CKD) and are responsible for at least 10–15% of cases of kidney replacement therapy (KRT) in adults. Pediatric nephrologists are very aware of the high prevalence of IKDs among their patients, but this is not the case for adult nephrologists. Recent publications have demonstrated that monogenic diseases account for a significant percentage of adult cases of CKD. A substantial number of these patients have received a non-specific/incorrect diagnosis or a diagnosis of CKD of unknown etiology, which precludes correct treatment, follow-up and genetic counseling. There are a number of reasons why genetic kidney diseases are difficult to diagnose in adulthood: a) adult nephrologists, in general, are not knowledgeable about IKDs, b) existence of atypical phenotypes, c) genetic testing is not universally available, d) family history is not always available or may be negative, e) lack of knowledge of various genotype–phenotype relationships, f) conflicting interpretation of the pathogenicity of many sequence variants.

scholarly journals HEMATOLOGICAL PROFILE IN PATIENTS OF CHRONIC KIDNEY DISEASE WITH ITS SEVERITY IN A TERTIARY CARE HOSPITAL, NORTH ODISHA

2020 ◽  
pp. 182-187
Author(s):  
BIBHU PRASAD BEHERA
Keyword(s):  
Chronic Kidney Disease ◽  
Kidney Disease ◽  
Hematological Parameters ◽  
Tertiary Care ◽  
Microcytic Anemia ◽  
Treatment Modalities ◽  
Unknown Etiology ◽  
Care Hospital ◽  
College Hospital ◽  
Correct Treatment

Objective: Efforts can be made to normalize the hematological parameters and slow the progress of the disease so that the morbidity and mortality in these patients with chronic kidney disease could be effectively reduced. Methods: The observational study was carried out in the Department of General Medicine, Pandit Raghunath Murmu Medical College Hospital, Baripada, between May 2018 and January 2019. Two hundred seventy patients of chronic kidney disease (CKD) above 15 years of age, satisfying the inclusion and exclusion criteria, were included in the study. Results: In our study, 179 (66.30%) were male, and 91 (33.70%) were female with M:F of 1.97:1. The average age of the patients in the study was 55.72±12.77 years. About 42.59 % (115) of the patients were between 46 and 60 years of age. About 35.56% of CKD cases had determined etiology and, 64.44% of cases had unknown etiology. Hemoglobin, RBC, and packed cell volume were significantly lower in the patients with CKD compared to the controls (p=0.0001), and RDW was considerably higher in the patients with CKD compared to the controls (p=0.0001). Microcytic anemia was the most prevalent type of anemia. There was a hugely significant association between the prevalence of thrombocytopenia and the severity of CKD (p=0.006). Conclusion: This study concluded that patients with CKD show abnormal hematological parameters. Evaluation of hematological parameters in these patients helps in classifying the type of anemia, aids in choosing the correct treatment modalities, and decreases mortality.

Increased level of organochlorine pesticides in chronic kidney disease patients of unknown etiology: Role of GSTM1/GSTT1 polymorphism

Chemosphere ◽  
2014 ◽  
Vol 96 ◽  
pp. 174-179 ◽  
Author(s):  
Manushi Siddarth ◽  
Sudip K. Datta ◽  
MD. Mustafa ◽  
Rafat S. Ahmed ◽  
Basu D. Banerjee ◽  
...  
Keyword(s):  
Chronic Kidney Disease ◽  
Kidney Disease ◽  
Organochlorine Pesticides ◽  
Unknown Etiology ◽  
Gstt1 Polymorphism

scholarly journals Use of Lipid-Modifying Agents for the Treatment of Glomerular Diseases

2021 ◽  
Vol 11 (8) ◽  
pp. 820
Author(s):  
Mengyuan Ge ◽  
Sandra Merscher ◽  
Alessia Fornoni
Keyword(s):  
Chronic Kidney Disease ◽  
Kidney Disease ◽  
Recent Progress ◽  
Kidney Diseases ◽  
Kidney Injury ◽  
Glomerular Diseases ◽  
Intracellular Lipids ◽  
Lipid Modifying Agents ◽  
Made In

Although dyslipidemia is associated with chronic kidney disease (CKD), it is more common in nephrotic syndrome (NS), and guidelines for the management of hyperlipidemia in NS are largely opinion-based. In addition to the role of circulating lipids, an increasing number of studies suggest that intrarenal lipids contribute to the progression of glomerular diseases, indicating that proteinuric kidney diseases may be a form of “fatty kidney disease” and that reducing intracellular lipids could represent a new therapeutic approach to slow the progression of CKD. In this review, we summarize recent progress made in the utilization of lipid-modifying agents to lower renal parenchymal lipid accumulation and to prevent or reduce kidney injury. The agents mentioned in this review are categorized according to their specific targets, but they may also regulate other lipid-relevant pathways.

scholarly journals The role of metabolic acidosis in chronic kidney diseases

2010 ◽  
Vol 4 (3) ◽  
pp. 367-372
Author(s):  
James C. M. Chan
Keyword(s):  
Chronic Kidney Disease ◽  
Metabolic Acidosis ◽  
Kidney Disease ◽  
Kidney Diseases ◽  
Original Research ◽  
Due Diligence ◽  
Acid Base ◽  
Chronic Kidney Diseases ◽  
Balance Development

Abstract Background and objectives: This review focuses on three areas, basic acid-base physiology especially concerning hydrogen ion balance, development of acidosis in chronic kidney disease (CKD), and the consequences of acidosis. We highlight what is well established, what is less certain, and what is unknown. Method and results: The literature on acidosis in CKD were searched from 2004 to 2010 utilizing PubMed, Google Scholar, and Ovid to augment the classic work on acid base physiology over the past three decades. The original research in endogenous acid production and net acid excretion were reviewed. Touching upon the development of metabolic acidosis in CKD, we focused on the consequences of chronic metabolic acidosis on growth and other important variables. Finally, we recognize the significant issue of patients’ medical non-compliance and presented treatment strategy to counter this problem. Conclusion: The correction of acidosis in chronic kidney disease needs no advocacy. The case is made conclusively. Patient non-compliance because of the medication that needs to be taken several times a day is a problem, requiring due diligence.

scholarly journals Prevalence of hereditary tubulointerstitial kidney diseases in the German Chronic Kidney Disease study

2021 ◽  
Author(s):  
Bernt Popp ◽  
Arif B. Ekici ◽  
Karl X. Knaup ◽  
Karen Schneider ◽  
Steffen Uebe ◽  
...  
Keyword(s):  
Chronic Kidney Disease ◽  
Kidney Disease ◽  
Kidney Diseases ◽  
Diagnostic Yield ◽  
Genetic Disorder ◽  
Clinical Criteria ◽  
Pathogenic Variants ◽  
Increased Risk ◽  
Monogenic Diseases ◽  
Disease Study

ABSTRACTExome sequencing (ES) studies in chronic kidney disease (CKD) cohorts could identify pathogenic variants in ∼10% of patients. This implies underdiagnosis of hereditary CKD. Tubulointerstitial kidney diseases, showing no typical clinical/histologic finding but tubulointerstitial fibrosis, are particularly difficult to diagnose.We used a custom designed targeted panel (29 genes) and MUC1-SNaPshot to sequence 271 DNA samples, selected by clinical criteria from 5,217 individuals in the German Chronic Kidney Disease (GCKD) cohort.We identified 33 pathogenic small variants. Of these 27 (81.8%) were in COL4-genes, the largest group being 15 COL4A5-variants with nine unrelated individuals carrying c.1871G>A, p.(Gly624Asp). We found three cysteine variants in UMOD, a novel missense, and a novel splice variant in HNF1B and the homoplastic MTTF variant m.616T>C. Copy-number analysis identified a heterozygous COL4A5-deletion, and a HNF1B-duplication/-deletion, respectively. Overall, pathogenic variants were present in 12.5% (34/271) and variants of unknown significance in 9.6% (26/271) of selected individuals. Bioinformatic predictions paired with gold standard diagnostics for MUC1 (SNaPshot) could not identify the typical cytosine duplication (“c.428dupC”) in any individual, implying that ADTKD-MUC1 is rare.Our study shows that >10% of individuals with certain clinical features carry disease variants in genes associated with tubulointerstitial kidney diseases. COL4-genes constitute the largest fraction, implying they are overlooked using clinical Alport-syndrome criteria. We also identified variants easily missed by some ES pipelines. Finally, our results indicate that the filtering criteria applied enrich for an underlying genetic disorder.SIGNIFICANCE STATEMENTCKD affects >10% of the global population and recent studies imply that a considerable portion can be attributed to monogenic diseases, which are likely underappreciated in the clinical routine. Tubulointerstitial kidney diseases are a particularly difficult group of hereditary kidney diseases to diagnose both clinically and genetically. To investigate the prevalence of these disorders in a large CKD cohort we established a set of clinical criteria and designed a custom panel sequencing pipeline. Based on the diagnostic yield of 12.5%, we recommend an algorithm to clinically select and genetically evaluate patients with increased risk for a hereditary tubulointerstitial kidney disease.

COLONIC MICROBIOTA AND CHRONIC KIDNEY DISEASES INTESTINAL MICROBIOTA AND CHRONIC KIDNEY DISEASE. PART II

2019 ◽  
Vol 23 (1) ◽  
pp. 18-31 ◽  
Author(s):  
B. G. Lukichev ◽  
A. Sh. Rumyantsev ◽  
I. Yu. Panina ◽  
V. Akimenko
Keyword(s):  
Chronic Kidney Disease ◽  
Kidney Disease ◽  
Intestinal Microbiota ◽  
Kidney Diseases ◽  
Biologically Active ◽  
Chronic Kidney Diseases ◽  
Mechanical Removal ◽  
Starting Point ◽  
Active Substances

Interest in studying the role of the gastrointestinal tract in maintaining homeostasis in chronic kidney disease is a traditional one. It served, in particular, as a starting point for the creation of enterosorbents. However, if earlier the main attention was paid to the mechanical removal of a number of potentially dangerous biologically active substances, recently an intestinal microbiota has become an object of interest. The first part of the review of the literature on this topic is devoted to questions of terminology, the normal physiology of the colon microbiota. A detailed description of dysbiosis is given. The features of the main groups of microorganisms are reflected. The hypothetical and confirmed interrelations of the intestine-kidney axis are presented. The pathogenetic mechanisms of the influence of colon dysbiosis on the processes of local and systemic inflammation are discussed. The influence of dysbiosis on the state of the kidney parenchyma and its participation in the progression of CKD are debated.

scholarly journals Novel biomarkers in kidney disease: roles for cilia, Wnt signalling and ATMIN in polycystic kidney disease

2016 ◽  
Vol 44 (6) ◽  
pp. 1745-1751 ◽  
Author(s):  
Paraskevi Goggolidou ◽  
Patricia D. Wilson
Keyword(s):  
Chronic Kidney Disease ◽  
Kidney Disease ◽  
Kidney Diseases ◽  
Wnt Signalling ◽  
Therapeutic Interventions ◽  
The Novel ◽  
Kidney Dialysis ◽  
Novel Biomarkers ◽  
Canonical Wnt

Biomarkers, the measurable indicators of biological conditions, are fast becoming a popular approach in providing information to track disease processes that could lead to novel therapeutic interventions for chronic conditions. Inherited, chronic kidney disease affects millions of people worldwide and although pharmacological treatments exist for some conditions, there are still patients whose only option is kidney dialysis and kidney transplantation. In the past 10 years, certain chronic kidney diseases have been reclassified as ciliopathies. Cilia in the kidney are antenna-like, sensory organelles that are required for signal transduction. One of the signalling pathways that requires the primary cilium in the kidney is Wnt signalling and it has three components such as canonical Wnt, non-canonical Wnt/planar cell olarity (PCP) and non-canonical Wnt/Ca2+ signalling. Identification of the novel role of ATM INteractor (ATMIN) as an effector molecule in the non-canonical Wnt/PCP pathway has intrigued us to investigate its potential role in chronic kidney disease. ATMIN could thus be an important biomarker in disease prognosis and treatment that might lighten the burden of chronic kidney disease and also affect on its progression.

scholarly journals Mechanisms by Which Dehydration May Lead to Chronic Kidney Disease

2015 ◽  
Vol 66 (Suppl. 3) ◽  
pp. 10-13 ◽  
Author(s):  
C. Roncal-Jimenez ◽  
M.A. Lanaspa ◽  
T. Jensen ◽  
L.G. Sanchez-Lozada ◽  
R.J. Johnson
Keyword(s):  
Chronic Kidney Disease ◽  
Risk Factor ◽  
Kidney Disease ◽  
Central America ◽  
Kidney Diseases ◽  
Long Term Effects ◽  
Acute Renal Dysfunction ◽  
Chronic Kidney Diseases

Dehydration, a condition that characterizes excessive loss of body water, is well known to be associated with acute renal dysfunction; however, it has largely been considered reversible and to be associated with no long-term effects on the kidney. Recently, an epidemic of chronic kidney disease has emerged in Central America in which the major risk factor seems to be recurrent heat-associated dehydration. This has led to studies investigating whether recurrent dehydration may lead to permanent kidney damage. Three major potential mechanisms have been identified, including the effects of vasopressin on the kidney, the activation of the aldose reductase-fructokinase pathway, and the effects of chronic hyperuricemia. The discovery of these pathways has also led to the recognition that mild dehydration may be a risk factor in progression of all types of chronic kidney diseases. Furthermore, there is some evidence that increasing hydration, particularly with water, may actually prevent CKD. Thus, a whole new area of investigation is developing that focuses on the role of water and osmolarity and their influence on kidney function and health.

scholarly journals Causes of End Stage Kidney Disease in Maintenance Hemodialysis Patients in District Swat, Khyber Pukhtonkhwa Pakistan

2021 ◽  
Vol 5 (02) ◽  
Author(s):  
Fawad Khalid ◽  
Asad ullah Khan ◽  
Adnan Fazal
Keyword(s):  
Chronic Kidney Disease ◽  
Kidney Disease ◽  
Kidney Diseases ◽  
Cross Sectional Study ◽  
Maintenance Hemodialysis ◽  
Cross Sectional ◽  
Hospital District ◽  
High Prevalence ◽  
One Year ◽  
End Stage

Chronic kidney disease (CKD) affects 10–15% of the population worldwide and its prevalence is increasing. Objective: To find the frequency of common diseases causing chronic kidney diseases (CKD) in dialysis dependent patients in District Swat, Khyber Pukhtonkhwa. Methodology: Cross sectional study at Department of Nephrology Nawaz Sharif Kidney Hospital, District Swat, Khyber Pukhtonkhwa, Pakistan. Results: Total of 110 patients were undergoing maintenance hemodialysis. There were 53(48.2%) male and mean age was 54.40+ 16.32 years. Among 110 patients, only 9 (8.2%) had dialysis once per week and 101(91.8%) had dialysis twice per week hemodialysis. Majority, 64(58.2%) patients were undergoing dialysis less than one year. 6(5.5 %) had hypertension, 33(30%) had diabetes and 68(61.8%) patients had both Diabetes and Hypertension. Out of 110, 39(35.5%) patients were Hepatitis B positive, and 28(25.5%) patients had Hepatitis C. Conclusion:  Results of this study showed that the leading cause of chronic kidney disease (CKD) among dialysis patients was diabetes mellitus with or without hypertension and a high prevalence of both HBV and HCV.

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