scholarly journals Integration of genetic and histopathology data in interpretation of kidney disease

2020 ◽  
Vol 35 (7) ◽  
pp. 1113-1132
Author(s):  
Susan L Murray ◽  
Neil K Fennelly ◽  
Brendan Doyle ◽  
Sally Ann Lynch ◽  
Peter J Conlon
Keyword(s):  
Kidney Disease ◽  
Renal Biopsy ◽  
Kidney Diseases ◽  
Genomic Medicine ◽  
Disease Diagnosis ◽  
Diagnostic Information ◽  
Significant Burden ◽  
Diagnostic Modalities ◽  
Enhance Patient Care ◽  
Inherited Kidney Disease

Abstract For many years renal biopsy has been the gold standard for diagnosis in many forms of kidney disease. It provides rapid, accurate and clinically useful information in most individuals with kidney disease. However, in recent years, other diagnostic modalities have become available that may provide more detailed and specific diagnostic information in addition to, or instead of, renal biopsy. Genomics is one of these modalities. Previously prohibitively expensive and time consuming, it is now increasingly available and practical in a clinical setting for the diagnosis of inherited kidney disease. Inherited kidney disease is a significant cause of kidney disease, in both the adult and paediatric populations. While individual inherited kidney diseases are rare, together they represent a significant burden of disease. Because of the heterogenicity of inherited kidney disease, diagnosis and management can be a challenge and often multiple diagnostic modalities are needed to arrive at a diagnosis. We present updates in genomic medicine for renal disease, how genetic testing integrates with our knowledge of renal histopathology and how the two modalities may interact to enhance patient care.

scholarly journals Heme Oxygenase 1: A Defensive Mediator in Kidney Diseases

2021 ◽  
Vol 22 (4) ◽  
pp. 2009
Author(s):  
Anne Grunenwald ◽  
Lubka T. Roumenina ◽  
Marie Frimat
Keyword(s):  
Kidney Disease ◽  
Heme Oxygenase ◽  
Current Knowledge ◽  
Kidney Diseases ◽  
Heme Oxygenase 1 ◽  
Wide Range ◽  
Significant Burden ◽  
Stage Renal Disease ◽  
End Stage ◽  
Positive Effect

The incidence of kidney disease is rising, constituting a significant burden on the healthcare system and making identification of new therapeutic targets increasingly urgent. The heme oxygenase (HO) system performs an important function in the regulation of oxidative stress and inflammation and, via these mechanisms, is thought to play a role in the prevention of non-specific injuries following acute renal failure or resulting from chronic kidney disease. The expression of HO-1 is strongly inducible by a wide range of stimuli in the kidney, consequent to the kidney’s filtration role which means HO-1 is exposed to a wide range of endogenous and exogenous molecules, and it has been shown to be protective in a variety of nephropathological animal models. Interestingly, the positive effect of HO-1 occurs in both hemolysis- and rhabdomyolysis-dominated diseases, where the kidney is extensively exposed to heme (a major HO-1 inducer), as well as in non-heme-dependent diseases such as hypertension, diabetic nephropathy or progression to end-stage renal disease. This highlights the complexity of HO-1’s functions, which is also illustrated by the fact that, despite the abundance of preclinical data, no drug targeting HO-1 has so far been translated into clinical use. The objective of this review is to assess current knowledge relating HO-1’s role in the kidney and its potential interest as a nephroprotection agent. The potential therapeutic openings will be presented, in particular through the identification of clinical trials targeting this enzyme or its products.

General considerations in patients with renal disease

2021 ◽  
pp. 1-42
Keyword(s):  
Kidney Disease ◽  
Filtration Rate ◽  
Kidney Diseases ◽  
Incidental Finding ◽  
Diagnostic Information ◽  
Response To Treatment ◽  
Societal Impact ◽  
Appropriate Treatment ◽  
Immunological Tests ◽  
Kidney Functions

Kidney diseases represent a large spectrum of conditions with varying prevalences, presentations, outcomes, personal, and societal impact. Kidney disease is frequently diagnosed as an incidental finding in blood and urine tests. A carefully taken history and physical examination may point to clues for various kidney diseases. A complete examination of urine accompanied by assessment of proteinuria and albuminuria is one of the basic diagnostic evaluations. Assessment of glomerular filtration rate as the best index of kidney function is crucial for every patient with kidney disease. Several immunological tests on blood and urine may provide additional diagnostic information, assessment of prognosis, and response to treatment. Imaging of kidneys and urinary tract with various modalities may not only provide some diagnostic information, but also may give chances to treat some kidney diseases. A kidney biopsy may provide a specific diagnosis, reflect the level of disease severity, and guide to use appropriate treatment. Assessment of kidney functions are also essential for safe prescribing as the ability of the kidneys to handle drugs is significantly altered in kidney disease.

scholarly journals The European Rare Kidney Disease Registry (ERKReg): objectives, design and initial results

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Giulia Bassanese ◽  
Tanja Wlodkowski ◽  
Aude Servais ◽  
Laurence Heidet ◽  
Dario Roccatello ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Clinical Research ◽  
Management Practices ◽  
Modular Design ◽  
Kidney Diseases ◽  
Data Entry ◽  
Disease Diagnosis ◽  
Reference Network ◽  
Disease Specific ◽  
Epidemiological Information

Abstract Background The European Rare Kidney Disease Reference Network (ERKNet) recently established ERKReg, a Web-based registry for all patients with rare kidney diseases. The main objectives of this core registry are to generate epidemiological information, identify current patient cohort for clinical research, explore diagnostic and therapeutic management practices, and monitor treatment performance and patient’s outcomes. The registry has a modular design that allows to integrate comprehensive disease-specific registries as extensions to the core database. The diagnosis (Orphacode) and diagnostic information (clinical, imaging, histopathological, biochemical, immunological and genetic) are recorded. Anthropometric, kidney function, and disease-specific management and outcome items informing a set of 61 key performance indicators (KPIs) are obtained annually. Data quality is ensured by automated plausibility checks upon data entry and regular offline database checks prompting queries. Centre KPI statistics and benchmarking are calculated automatically. Results Within the first 24 months since its launch, 7607 patients were enrolled to the registry at 45 pediatric and 12 specialized adult nephrology units from 21 countries. A kidney disease diagnosis had been established in 97.1% of these patients at time of enrolment. While 199 individual disease entities were reported by Orphacode, 50% of the cohort could be classified with 11, 80% with 43 and 95% with 92 codes. Two kidney diagnoses were assigned in 6.5% of patients; 5.9% suffered from syndromic disease. Whereas glomerulopathies (54.8%) and ciliopathies including autosomal dominant polycystic kidney disease (ADPKD) (31.5%) were the predominant disease groups among adults, the pediatric disease spectrum encompassed congenital anomalies of the kidney and urinary tract (CAKUT) (33.7%), glomerulopathies (30.7%), ciliopathies (14.0%), tubulopathies (9.2%), thrombotic microangiopathies (5.6%), and metabolic nephropathies (4.1%). Genetically confirmed diagnoses were reported in 24% of all pediatric and 12% adult patients, whereas glomerulopathies had been confirmed by kidney biopsy in 80.4% adult versus 38.5% pediatric glomerulopathy cases. Conclusions ERKReg is a rapidly growing source of epidemiological information and patient cohorts for clinical research, and an innovative tool to monitor management quality and patient outcomes.

scholarly journals The revised version 2018 of the nationwide web-based registry system for kidney diseases in Japan: Japan Renal Biopsy Registry and Japan Kidney Disease Registry

2020 ◽  
Vol 24 (11) ◽  
pp. 1058-1068
Author(s):  
Takaya Ozeki ◽  
◽  
Shoichi Maruyama ◽  
Michio Nagata ◽  
Akira Shimizu ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Renal Biopsy ◽  
Kidney Diseases ◽  
Immunosuppressive Treatment ◽  
Laboratory Data ◽  
First Year ◽  
Disease Registry ◽  
Web Based ◽  
Registry System ◽  
Almost All

Abstract Background The Japan Renal Biopsy Registry (J-RBR), the first nation-wide registry of renal biopsies in Japan, was established in 2007, and expanded to include non-biopsy cases as the Japan Kidney Disease Registry (J-KDR) in 2009. The J-RBR/J-KDR is one of the biggest registries for kidney diseases. It has revealed the prevalence and distribution of kidney diseases in Japan. This registry system was meant to be revised after 10 years. Methods In 2017, the Committees of the Japanese Society of Nephrology started a project for the revision of the J-RBR/J-KDR. The revised system was designed in such a way that the diagnoses of the patients could be selected from the Diagnosis Panel, a list covering almost all known kidney diseases, and focusing on their pathogenesis rather than morphological classification. The Diagnosis Panel consists of 22 categories (18 glomerular, 1 tubulointerstitial, 1 congenital/genetical, 1 transplant related, and 1 other) and includes 123 diagnostic names. The items for clinical diagnosis and laboratory data were also renewed, with the addition of the information on immunosuppressive treatment. Results The revised version of J-RBR/J-KDR came into use in January 2018. The number of cases registered under the revised system was 2748 in the first year. The total number of cases has reached to 43,813 since 2007. Conclusion The revised version 2018 J-RBR/J-KDR system attempts to cover all kidney diseases by focusing on their pathogenesis. It will be a new platform for the standardized registration of kidney biopsy cases that provides more systemized data of higher quality.

Syphilis

2015 ◽  
Author(s):  
Emmanuel A. Burdmann
Keyword(s):  
Infectious Disease ◽  
Kidney Disease ◽  
Antibiotic Therapy ◽  
Renal Biopsy ◽  
Congenital Syphilis ◽  
Kidney Diseases ◽  
Transmission Route ◽  
Infected Blood ◽  
Clinical Presentations ◽  
Membranous Glomerulopathy

Syphilis is an infectious disease caused by the bacterium Treponema pallidum. The transmission route is usually sexual, but prenatal contamination (congenital syphilis) and transmission by infected blood can also occur. The most frequent presentation of syphilis nephropathy is proteinuria, and the most common form of associated glomerular disease is membranous glomerulopathy. Kidney disease usually reverts with antibiotic therapy. Syphilis must always be considered in proteinuric HIV-infected patients. Renal biopsy is necessary to differentiate between HIV-associated nephropathy and syphilis-induced glomerulopathies, since both kidney diseases have analogous clinical presentations, but syphilis-induced glomerulopathies may recover with syphilis successful treatment.

Approach to the Patient with Kidney Disease

2018 ◽  
Author(s):  
Mustafa Arici
Keyword(s):  
Chronic Kidney Disease ◽  
Glomerular Filtration Rate ◽  
Kidney Disease ◽  
Serum Creatinine ◽  
Renal Biopsy ◽  
Glomerular Filtration ◽  
Kidney Function ◽  
Filtration Rate ◽  
Kidney Diseases ◽  
Risk Of Progression

Chronic kidney disease (CKD) has diverse presentations that are frequently subclinical early in its course but symptomatic in more advanced stages. Quite commonly, kidney disease is diagnosed as an incidental finding in blood or urine tests. It is therefore crucial to understand how to assess kidney function tests and know the diverse presentations of kidney diseases in clinical practice. Assessment of kidney function mainly comprises three important steps: measuring glomerular filtration rate (GFR), estimation of urine albumin or protein excretion, and urinalysis/sediment examination. Estimating GFR based on a filtration marker (usually serum creatinine) is now widely accepted as the initial test. Several GFR prediction equations that use serum creatinine or other filtration markers along with certain patient characteristics (such as age, gender, and race) are used to estimate GFR, though several limitations must be considered when interpreting their results. Measurement of proteinuria or albuminuria provides insights into etiology (glomerular versus other parenchymal kidney diseases) and an assessment of risk of progression (ie, greater proteinuria, higher risk of progression). A complete examination of urine should be performed in all kidney patients. Urinalysis/sediment examination provides important information for both differential diagnosis of acute kidney disease (AKD) and CKD and clues for underlying etiologies of kidney disease. Several serologic tests and selected imaging studies complement the assessment of kidney diseases. Renal biopsy is occasionally required to specify the exact diagnosis and direct the treatment. All these investigations should be performed to determine the duration of kidney disease (ie, acute or chronic), designate the specific etiology, assess the risk for progression, and evaluate the presence of complications. Recently, several risk stratification scores or prediction models were developed for early diagnosis or predicting prognosis of acute kidney injury or CKD. These risk models may help to decrease the huge burden of kidney diseases on the individual as well as social level. This review contains 1 figure, 11 tables and 29 references Key Words: albumin-creatinine ratio, albuminuria, biomarkers, eGFR, chronic kidney disease, cystatin C, history, imaging, glomerular filtration rate , physical examination, renal biopsy, serum creatinine, urinalysis

scholarly journals Disease Modeling To Understand the Pathomechanisms of Human Genetic Kidney Disorders

2020 ◽  
Vol 15 (6) ◽  
pp. 855-872 ◽  
Author(s):  
Elisa Molinari ◽  
John A. Sayer
Keyword(s):  
Kidney Disease ◽  
Disease Modeling ◽  
Kidney Diseases ◽  
Model Systems ◽  
Definitive Treatment ◽  
Patient Specific ◽  
Disease Models ◽  
Culture Methods ◽  
Human Patient ◽  
Inherited Kidney Disease

The class of human genetic kidney diseases is extremely broad and heterogeneous. Accordingly, the range of associated disease phenotypes is highly variable. Many children and adults affected by inherited kidney disease will progress to ESKD at some point in life. Extensive research has been performed on various different disease models to investigate the underlying causes of genetic kidney disease and to identify disease mechanisms that are amenable to therapy. We review some of the research highlights that, by modeling inherited kidney disease, contributed to a better understanding of the underlying pathomechanisms, leading to the identification of novel genetic causes, new therapeutic targets, and to the development of new treatments. We also discuss how the implementation of more efficient genome-editing techniques and tissue-culture methods for kidney research is providing us with personalized models for a precision-medicine approach that takes into account the specificities of the patient and the underlying disease. We focus on the most common model systems used in kidney research and discuss how, according to their specific features, they can differentially contribute to biomedical research. Unfortunately, no definitive treatment exists for most inherited kidney disorders, warranting further exploitation of the existing disease models, as well as the implementation of novel, complex, human patient–specific models to deliver research breakthroughs.

scholarly journals Comparative analysis of classification algorithms for chronic kidney disease diagnosis

2019 ◽  
Vol 8 (4) ◽  
Author(s):  
Zainuri Saringat ◽  
Aida Mustapha ◽  
R. D. Rohmat Saedudin ◽  
Noor Azah Samsudin
Keyword(s):  
Chronic Kidney Disease ◽  
Kidney Disease ◽  
Supervised Classification ◽  
Bone Fractures ◽  
Kidney Diseases ◽  
Disease Diagnosis ◽  
Classification Model ◽  
Support Vector ◽  
Classification Algorithms ◽  
Nearest Neighbour

Chronic Kidney Disease (CKD) is one of the leading cause of death contributed by other illnesses such as diabetes, hypertension, lupus, anemia or weak bones that lead to bone fractures. Early prediction of CKD is important in order to contain the disesase. However, instead of predicting the severity of CKD, the objective of this paper is to predict the diagnosis of CKD based on the symptoms or attributes observed in a particular case, whether the stage is acute or chronic. To achieve this, a classification model is proposed to label stage of severity for kidney diseases patients. The experiments then investigated the performance of the proposed classification model based on eight supervised classification algorithms, which are ZeroR, Rule Induction, Support Vector Machine, Naïve Bayes, Decision Tree, Decision Stump, k-Nearest Neighbour, and Classification via Regression. The performance of the all classifiers is evaluated based on accuracy, precision, and recall. The results showed that the regression classifier perform best in the kidney diagnostic procedure.

scholarly journals Clinical and Military Outcomes of Kidney Diseases Diagnosed in Active Duty Service Members

2021 ◽  
Author(s):  
Trevor W Tobin ◽  
Christina M Yuan ◽  
Robert Nee ◽  
John S Thurlow
Keyword(s):  
Kidney Disease ◽  
Lupus Nephritis ◽  
Renal Biopsy ◽  
Iga Nephropathy ◽  
Military Service ◽  
Kidney Diseases ◽  
Immunoglobulin A ◽  
Active Duty ◽  
Histologic Diagnosis ◽  
Renal Biopsies

ABSTRACT Introduction Renal biopsy is a valuable tool for determining diagnosis, management, and prognosis of intrinsic kidney diseases. Indications for biopsy depend on the clinical presentation. Within the military, renal biopsies also enable medical review boards to make military service fitness assessments after diagnosis of a kidney disease. There are no recent studies evaluating kidney disease diagnoses and clinical outcomes after renal biopsy at military treatment facilities. Additionally, no studies have examined overall healthcare and military career outcomes following renal biopsy. Materials and Methods We retrospectively reviewed all native renal biopsies performed on active duty beneficiaries at the Walter Reed National Military Medical Center from 2005 to 2020. We determined the prevalence of those who progressed to end-stage kidney disease (ESKD), kidney transplantation, doubling of serum creatinine, nephrotic-range proteinuria (NRP; proteinuria >3.5 g/day), medical evaluation board (MEB) outcomes, and death. The Armed Forces Health Longitudinal Technology Application and the Joint Legacy Viewer electronic medical record systems were used to access clinical and laboratory data at the time of biopsy and subsequent outcomes. Death data were collected using the Defense Suicide Prevention Office database. Results There were 169 patients in the cohort, with a mean follow-up of 7.3 years. Mean age was 32 years; 79% male; 48% white; and 37% black. Sixty-seven percentage of them were junior or senior enlisted. The most common indication for renal biopsy was concomitant hematuria and proteinuria (31%). The most common histologic diagnoses were immunoglobulin A (IgA) nephropathy (23%), followed by focal segmental glomerulosclerosis (FSGS; 17%) and lupus nephritis (12%). Eleven percentage of them progressed to ESKD, of whom 87% received a kidney transplant (10% overall). Thirty percentage of the patients progressed to NRP and 5% died. Forty-seven percentage of our patients underwent MEB after diagnosis, and of these, 84% were not retained for further military service. Although IgA nephropathy was the most commonly diagnosed condition, FSGS and lupus nephritis diagnoses were significantly more likely to result in MEB. Conclusions and Implications Immunoglobulin A nephropathy was the most frequent histologic diagnosis in active duty service members undergoing renal biopsy between 2005 and 2020. Despite being largely young and previously healthy, 11% progressed to ESKD and 5% died. A confirmed histologic diagnosis was associated with separation from the service and the end of military careers for 84% of the patients in the cohort who underwent MEB.

Stroke in chronic renal failure

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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