Early Kidney Disease Research Articles

Evaluation and randomised controlled trial of home urinalysis testing in patients with SLE at elevated risk for developing lupus nephritis: a study protocol

IntroductionLupus nephritis (LN) is a frequent complication of SLE, occurring in up to 60% of adult patients and ultimately progressing from acute inflammation to chronicity with fibrosis and end-stage kidney...

N-acetyl-β-D-glucosaminidase inclinically healthy German Shepherd dogs and dogs with early stages ofchronic kidney disease.

Urinary N-acetyl-β-D-glucosaminidase (NAG) activity isassociated with kidney disease. Inour study, wefocused onevaluating the ratio ofNAG tothe urinary creatinine concentration (NAG/Cr) inthe German Shepherd breed. Sixty-two healthy dogs and thirteen dogs with chronic kidney disease (CKD) were examined. The healthy dogs were divided into groups based ontheir sex and age (puppies and adolescent dogs under 2years, adult dogs from 2to 6years and seniors over 6years), while the dogs with CKD were divided based onthe disease stage (CKD stage1 and2). Nosignificant difference was detected between the males and females. Regarding theage dependence, significantly higher values were found indogs older than 6years (P=0.0203) compared todogs aged 2-6years. When comparing the healthy dogs tothe dogs with CKD, the lowest NAG/Cr ratio was observed inthe dogs with CKD stage2. The reference interval for NAG/Cr inthe German Shepherd was established intherange of0.78-7.86U/gCr. Weobserved nocorrelations with the commonly used markers ofkidney disease such ascreatinine, urea, orsymmetrical dimethylarginine. Nevertheless, weencourage the further investigation ofNAG inrelation toCKD, taking the breed, sex and age ofthe patients into account.

Clinical Validation of a Mobile-Based ACR (Urine Albumin-to-Creatinine Ratio) Test Kit: Comparative Analysis with Benchtop Devices

Background: Albuminuria, a marker for diabetes complications and kidney disease, is typically tested in hospitals, limiting patient monitoring. The mobile-based ACR (urine albumin-to-creatinine ratio) test, QSCheck-UISACR, was developed for easy detection of albuminuria. This study aimed to validate its clinical efficacy compared to a conventional benchtop device (Cybow R-50S) for early kidney disease diagnosis. Methods: Conducted in three hospitals with 303 kidney disease patients, urine samples were tested using both the mobile ACR kit and the benchtop device. Parameters measured included microalbumin, creatinine, and their ratio (albumin-to-creatinine ratio). Exact Agreement and Within One Block Agreement were calculated to compare methods.Results: Data collected from three university hospitals were aggregated and analyzed, showing that the microalbumin Exact Agreement was 73.3%, with a Within One Block Agreement of 96.0%. For creatinine, the Exact Agreement was 75.6%, and the Within One Block Agreement was 95.7%. Based on these two test results, the albumin-to-creatinine ratio analysis demonstrated an Exact Agreement of 78.5% and a Within One Block Agreement of 98.0%. These findings highlight the robust performance of the tests across the evaluated biomarkers.Conclusions: The mobile-based ACR test kit demonstrated high accuracy and comparability to the benchtop device, suggesting its potential as a reliable tool for early kidney disease screening in primary care settings, enhancing patient accessibility and reducing healthcare costs.

Neutrophil gelatinase-associated lipocalin as a biomarker for detection of early renal impairment in Iraqi patients with multiple myeloma.

To evaluate the serum neutrophil gelatinase-associated lipocalin levels in multiple myeloma patients as an indicator of disease progression. The case-control study was conducted at the Clinical Biochemistry Department of the National Centre of Haematology, Mustansiriyah University, Baghdad, Iraq, from October 2020 to July 2021, amd comprised diagnosed multiple myeloma patients and healthy controls of either gender aged 40-60 years. Neutrophil gelatinaseassociated lipocalin and renal functions were measured for all patients in addition to obtaining a complete history and physical examination. Data was analysed using MedCalc. Of the 60 sujects, 30(50) were cases with mean age 64±2.1 years and 30(50%) were controls with mean age 60 ±3.2 years. There were 18(68%) males among the cases and 17(55%) among the controls. In the cases group, mean levels of creatinine, urea and neutrophil gelatinase-associated lipocalin were 1.62±0.85mg/dl, 55.56±28.05mg/dl and 389.39±116.12pg/mL, respectively. The corresponding values for the controls were 0.9518±0.1623mg/dl, 30.17±8.47mg/dl and 120.82±68'52pg/ml. The neutrophil gelatinase-associated lipocalin cutoff level >190pg/ml in multiple myeloma patients was strongly associated with renal impairment (p<0.001). Neutrophil gelatinase-associated lipocalin was found to be an accurate indicator of early kidney disease in patients with de novo multiple myeloma.

Individual and neighborhood-level social and deprivation factors impact kidney health in the GLOMMS-CORE study

Prospective cohort studies of kidney equity are limited by a focus on advanced rather than early disease and selective recruitment. Whole population studies frequently rely on area-level measures of deprivation as opposed to individual measures of social disadvantage. Here, we linked kidney health and individual census records in the North of Scotland (Grampian area), 2011-2021 (GLOMMS-CORE) and identified incident kidney presentations at thresholds of estimated glomerular filtration rate (eGFR) under 60 (mild/early), under 45 (moderate), under 30 ml/min/1.73m2(advanced), and acute kidney disease (AKD). Household and neighborhood socioeconomic measures, living circumstances, and long-term mortality were compared. Case-mix adjusted multivariable logistic regression (living circumstances), and Cox models (mortality) incorporating an interaction between the household and the neighborhood were used. Among census respondents, there were 48546, 29081, 16116, 28097 incident presentations of each respective eGFR cohort and AKD. Classifications of socioeconomic position by household and neighborhood were related but complex, and frequently did not match. Compared to households of professionals, people with early kidney disease in unskilled or unemployed households had increased mortality (adjusted hazard ratios: 95% confidence intervals) of (1.26: 1.19-1.32) and (1.77: 1.60-1.96), respectively with adjustment for neighborhood indices making little difference. Those within either a deprived household or deprived neighborhood experienced greater mortality, but those within both had the poorest outcomes. Unskilled and unemployed households frequently reported being limited by illness, adverse mental health, living alone, basic accommodation, lack of car ownership, language difficulties, visual and hearing impairments. Thus, impacts of deprivation on kidney health are spread throughout society, complex, serious, and not confined to those living in deprived neighborhoods.

#755 Endotrophin as an early marker of kidney outcomes in persons with type 2 diabetes: findings from the PROVALID study

Abstract Background and Aims Diabetic kidney disease (DKD) is driven by a set of pathophysiological processes, including fibrosis. Endotrophin (ETP), a pro-fibrotic fragment generated during collagen type VI formation, has previously been shown to be a biomarker of DKD progression. The aim of this study was to investigate, for the first time, circulating ETP as a risk marker for kidney outcomes in persons with type 2 diabetes (T2D) being taken care of at the primary level of healthcare. Method Levels of ETP were measured using the nordicPRO-C6TM ELISA in plasma at baseline from 3226 persons with T2D enrolled in the Prospective Cohort Study in Patients with Type 2 Diabetes Mellitus for Validation of Biomarkers (PROVALID). Outcomes included a composite kidney endpoint defined as a sustained 40% decline in estimated glomerular filtration rate (eGFR) &amp;lt; an eGFR of 60 ml/min/173 m2, sustained 30% increase in albuminuria including a transition in albuminuria stage, or kidney failure with replacement therapy or kidney death. A decline in eGFR and an increase in albuminuria were considered sustained if they persisted over at least two consecutive measurements. Crude and adjusted Cox proportional hazards regression models were applied to investigate the potential of ETP as a risk marker of the kidney endpoint. Levels of ETP were log-transformed before analysis. The Kaplan–Meier estimator was used to compare the risks of experiencing the kidney endpoint according to ETP levels split by the median in persons with baseline eGFR &amp;gt; 90 ml/min/1.73 m2 (n = 976). Results The cohort consisted of 57% males; median age was 64 (58-70) years, and mean eGFR was 79 ± 24 ml/min/1.73 m2. Median follow-up was 3.9 years. Higher levels of ETP were associated with a higher risk of developing the kidney endpoint, with a hazard ratio (HR) of 1.63 (p = 0.0012; n = 293/3226). After adjustment for the refined variables: age, diabetes duration, HbA1c, atherosclerotic cardiovascular disease, blood pressure, duration of hypertension, BMI, LDL-cholesterol, HDL-cholesterol, and eGFR, the HR was 1.55 (p = 0.012). In persons with an eGFR &amp;gt; 90 ml/min/1.73 m2, higher ETP was also associated with an increased risk of developing the kidney endpoint (p = 0.03; n = 69/976). Conclusion Plasma ETP was an independent risk marker for kidney outcomes in persons with T2D with early kidney disease. Higher levels of plasma ETP were associated with a significantly increased risk of developing the kidney endpoint in persons with eGFR &amp;gt; 90 ml/min/1.73 m2. These findings demonstrate that biomarkers of fibrosis, such as ETP, may serve as early markers for kidney disease progression or kidney failure in persons with T2D and apparently normal kidney function.

Urinary vanin-1 as a novel biomarker for survival in peripheral artery disease.

Chronic kidney disease is associated with increased rates of incidence, morbidity, and mortality in lower-extremity peripheral artery disease (PAD). No specific marker for a functional risk assessment of kidney disease in PAD is known, especially at the early stages. Thus, we speculated that urinary vanin-1 (uVNN1), a marker of oxidative stress even in early kidney injury, could further stratify outcome assessment in patients with PAD. Patients with stable PAD (n = 304) of the Vienna medical cohort were followed up for up to 10 years and the outcome was assessed by central death database queries. uVNN1 was measured by enzyme-linked immunosorbent assay (ELISA) at study inclusion and normalized to urinary creatinine (uVNN1/Cr). During the observation time (9.3, 7.0-9.8 years), 104 patients died, 54.8% of which were due to cardiovascular causes. uVNN1/Cr was associated with a urine albumin-creatinine ratio (UACR) (R = 0.166, p = 0.004) but not with an estimated glomerular filtration rate (R = 0.102, p = 0.077). Levels of uVNN1/Cr did not differ between asymptomatic and symptomatic PAD (p = 0.406). Kaplan-Meier curves showed a clear-cut association with higher all-cause (log-rank p = 0.034) and cardiovascular mortality (log-rank p = 0.032) with higher uVNN1/Cr levels. Similarly, significant associations for all-cause (hazard ratio [HR] 1.34, 95% CI [1.08-1.67], p = 0.009) and cardiovascular mortality (HR 1.45, 95% CI [1.06-1.99], p = 0.020) could be seen in multivariable Cox regression models. uVNN1/Cr showed an independent association with both all-cause and cardiovascular mortality in patients with PAD and was associated with early kidney disease. Thus, uVNN1 could be a useful marker for risk stratification of kidney disease in PAD.

Klinički značaj NLRP3 inflamazoma i srodnih ćelijskih molekula u ranoj dijabetesnoj bolesti bubrega kod starije populacije

Background: The paper aims to investigate the expression level of NLRP3 inflammasome and its related cell molecules in early diabetes kidney disease (EDKD) in the elderly and its clinical application value. Methods: From October 2021 to April 2023, 50 elderly patients with T2DM (T2DM group), 50 elderly patients with EDKD (EDKD group) and 50 elderly people who passed the health check-up (healthy group) were chosen as the study subjects. Plasma NLRP3 inflammasome and related cells (blood leukocyte count, monocyte count, lymphocyte count) molecular (NT-proBNP and others) levels are tested, and Pearson correlation analysis is utilized to explore the correlation among plasma NLRP3 inflammasome and related cells, molecules, and renal function indicators (UACR, BUN, Ucr) in elderly patients with EDKD. Results: (1) The three groups' comparison in HbA1c, FIns, HOMA-IR, UACR, BUN, Ucr, SOD, MCP-1, and TNF-a levels were with P&lt;0.05. The levels of TG and LDL-C in the EDKD group were higher than those in the T2DM and the healthy groups; the levels of FPG, HbA1c, FINs, HOMA-IR, UACR, SOD, MCP-1, TNF-a in the EDKD and T2DM groups were higher than those in the healthy group, while SOD was smaller than that in the healthy group; the levels of BUN, Ucr, hs-CRP, FPG, HbA1c, FINs, HOMA-IR, UACR, SOD, MCP-1, TNF-a in the EDKD group were higher than those in the T2DM group, while SOD was smaller than that in the T2DM group. The above results were with P&lt;0.05. (2) It has P&lt;0.05 in Monocyte count, NLRP3, NT-proBNP, caspase-1, ASC and others in the three groups. Those in the EDKD and T2DM groups were higher than those in the healthy group. The levels of these indicators in the EDKD group were higher than those in the T2DM group, with P&lt;0.05. NLRP3, Caspase-1, ASC, IL1b, and IL-18 were positively correlated with UACR, BUN, and Ucr in the EDKD group. All the above differences were P&lt;0.05. Conclusions: NLRP3 inflammasome and its related molecules caspase-1, ASC, IL-1b, IL-18 and other levels increase in early elderly EDKD and are closely related to the severity of EDKD.

Abstract 18925: Hypertension Predicts Polycystic Kidney Disease 11 Years Ahead of Time in PKD1 and PKD2 Carriers, With a PPV of 71%

Introduction: Autosomal dominant polycystic kidney disease (ADPKD) is the leading hereditary form of kidney disease and is characterized by the formation of fluid-filled cysts that decrease kidney function and lead to complications including cardiovascular disease, kidney failure, and other organ failure. Although causal variants in the PKD1 and PKD2 genes have been identified, penetrance, morbidity, and outcome are known to vary widely in carriers. We propose to identify early markers of disease and to characterize disease presentation at the level of biomarkers, metabolites, and comorbidity incidence. Methods: This study is based on exomes and medical information from the UK Biobank (n=470k) and 3 American cohorts (n&gt;70k) sequenced with Helix: the Healthy Nevada Project, In Our DNA SC, and myGenetics. We identified individuals with rare LoF variants in either PKD1 or PKD2. We subsequently analyzed these individuals’ medical records, blood labs, and NMR-based metabolomics data (n~120k) to characterize the detailed clinical and biomarker-level disease presentation. Results: We find that 0.05% of the general population has a relevant variant in PKD1 or PKD2 (1/2000 people). In this population-level sample, the prevalence of kidney disease in carriers with hypertension is 71% (74% for PKD1 and 66% for PKD2) compared to 12% for noncarriers with hypertension. For carriers without hypertension, the prevalence is 14% (2% for PKD1 and 30% for PKD2) vs. 1% for noncarriers without hypertension. Importantly, the hypertension diagnosis precedes the kidney disease diagnosis by a mean of 11 years in these carriers. We additionally identify a subset of carriers who are outliers for a set of metabolites that includes cystatin C, creatinine and urea. Assessed prospectively, these carriers have decreased eGFR and a number of other signs of early stage kidney disease a mean of 5 years prior to their KD diagnosis. Conclusion: Identifying PKD1 and PKD2 carriers with hypertension would allow prediction of kidney disease a mean of 11 years in advance of the disease, with a PPV of 71%. Additionally, aberrant but subclinically significant biomarkers can provide an early warning of morbidity.

The Common PKD1 p.(Ile3167Phe) Variant Is Hypomorphic and Associated with Very Early Onset, Biallelic Polycystic Kidney Disease

Biallelic PKD1 variants, including hypomorphic variants, can cause very early onset polycystic kidney disease (VEO-PKD). A family with unexplained recurrent VEO-PKD and neonatal demise in one dizygotic twin was referred for clinical testing. Further individuals with the putative hypomorphic PKD1 variant, p.(Ile3167Phe), were identified from the UK 100,000 genomes project (100 K), UK Biobank (UKBB), and a review of the literature. We identified a likely pathogenic PKD1 missense paternal variant and the putative hypomorphic PKD1 variant from the unaffected mother in the deceased twin but only the paternal PKD1 variant in the surviving dizygotic twin. Analysis of 100 K cases identified a second family with two siblings with similar biallelic inheritance who presented at birth with VEO-PKD and reached kidney failure in their teens unlike other affected relatives. Finally, a survey of 618 UKBB cases confirmed that adult patients monoallelic for PKD1 p.(Ile3167Phe) had normal kidney function. Our data reveals that p.(Ile3167Phe) is the second most common PKD1 hypomorphic variant identified and is neutral in heterozygosity but is associated with VEO-PKD when inherited in trans with a pathogenic PKD1 variant. Care should be taken to ensure that it is not automatically filtered from sequence data for VEO cases.

408-P: Associations between Apolipoprotein B (apoB): Apolipoprotein A1 (apoA1) Ratio and Metabolic and Kidney Disease in Youth with Type 1 Diabetes

ApoA1 is a major protein component of high-density lipoprotein (HDL) and apoB the main protein component of low-density lipoprotein (LDL). The ratio between apoB and apoA1 (ApoB:ApoA1) is often used to measure cardiovascular disease (CVD) risk in adults, yet little is known about its relationship with insulin resistance, central adiposity and early kidney disease, important CVD risk factors, in youth with T1D. In a study of 50 youth with type 1 diabetes, glomerular filtration rate (GFR) and renal plasma flow (RPF) were assessed using iohexol and p-aminohippurate clearance, and urine albumin-to-creatinine ratio (UACR) was also measured. Central adiposity was assessed using DXA and insulin sensitivity was estimated (eIS). Intraglomerular pressure was estimated using the Gomez equations. The study participants were 16±3.0 years old, 50% were female, and their average HbA1c was 8.7±1.3%. They had an average T1D duration of 5.7±2.6 years, with UACR levels of 6[5-14] mg/g and GFR of 189±40 ml/min. Concentrations of apoA1 and apoB were quantified by targeted nuclear magnetic resonance spectroscopy. ApoA1 (185±35 vs. 150±36 mg/dl, p=0.001) and apoB (108±29 vs. 90±27 mg/dl, p=0.03) were higher in girls vs. boys, but the apoB:apoA1 ratio was similar between the sexes (p=0.59). ApoB correlated with PGLO (r: 0.42, p=0.01), log UACR (r: 0.33, p=0.02), and trunk mass (r: 0.34, p=0.02), whereas ApoB:ApoA1 correlated with GFR (r: 0.44, p=0.002), PGLO (r: 0.48, p=0.01), log UACR (r: 0.38, p=0.008), trunk mass (r: 0.45, p=0.001), BMI (r: 0.40, p=0.004) and inversely with eIS (-0.44, p=0.001). The ratio of apoB to apoA1 associated with markers of metabolic and kidney disease in youth with T1D. Further research is needed to fully understand the mechanisms behind these associations and to identify potential strategies for preventing or mitigating cardiovascular disease in young persons with T1D. Disclosure L.Remmers: None. C.Birznieks: None. D.Carrasco: None. S.Gross: None. J.K.Snell-bergeon: None. L.A.Hall: None. K.J.Nadeau: None. P.Bjornstad: Advisory Panel; AstraZeneca, Novo Nordisk, Lilly, Horizon Therapeutics plc, Boehringer Ingelheim (Canada) Ltd., LG Chem, Consultant; Bayer Inc., Bristol-Myers Squibb Company. K.L.Tommerdahl: None.

Barakat syndrome: clinical polymorphism of the disease

Barakat Syndrome (MIM#146255) is a rare autosomal dominant disease caused by GATA3 gene mutation and manifested by hypoparathyroidism (H), sensorineural deafness (D), and renal disease (R). HDR syndrome characterized by high clinical variability and prognosis. The exact prevalence of this disease is unknown, 180 cases are reported in the literature. Two clinical cases are presented. De novo heterozygous mutation in the GATA3 gene was detected in both patients. Our observations demonstrate variability of clinical phenotypes and poor prognosis in patients with Barakat Syndrome. The syndrome should be suspected in cases of early high-grade deafness and kidney disease presentation for the purpose of early diagnosis and appropriate therapy including the prevention of CKD progression.

Diagnostic value of neutrophil gelatinase-associated lipocalin (NGAL) as an early biomarker for detection of renal failure in hypertensives: a case–control study in a regional hospital in Ghana

BackgroundRenal failure is one of the most serious vascular effects of hypertension. For better therapy and prevention of complications, early kidney disease identification in these patients is absolutely essential. However, current studies have proposed plasma Neutrophil Gelatinase Associated Lipocalin (pNGAL) to be a better biomarker comparative to serum creatinine (SCr). This study assessed the diagnostic utility of plasma neutrophil gelatinase-associated lipocalin (pNGAL) as a biomarker for early nephropathy diagnosis in hypertensive individuals.MethodsThis hospital-based case–control study comprised 140 hypertensives and 70 healthy participants. A well-structured questionnaire and patient case notes were used to document relevant demographic and clinical information. 5 ml of venous blood sample was taken to measure fasting blood sugar levels, creatinine, and plasma NGAL levels. All data were analyzed using the Statistical Package for Social Sciences (SPSS release 20.0, copyrite©SPSS Inc.) and a p-value < 0.05 was considered statistically significant.ResultsIn this study the plasma neutrophil gelatinase-associated lipocalin (NGAL) levels were significantly higher in cases compared to controls. Hypertensive cases also had significantly higher waist-circumference compared to the control group. The median fasting blood sugar level was significantly higher in cases compared to controls. This study established the use of Modification of Diet in Renal Disease (MDRD), Chronic Kidney Disease Epidemiology Collaboration (CKD-EPI), and Cockcroft and Gault formula (CG) as the most accurate predictive equations for assessing renal dysfunction. The threshold for NGAL above which renal impairment can be assessed was found to be 109.4 ng/ml (sen-91%, spec. – 68%), 120 ng/ml (sen- 100%, spec- 72%) and 118.6 ng/ml (sen- 83%, spec- 72%) for MDRD, CKD-EPI and CG equations respectively. The prevalence of CKD was 16.4%, 13.6% and 20.7% respectively using the MDRD, CKD-EPI and CG.ConclusionFrom this study, pNGAL is a better indicator of kidney impairment in the early stages of CKD as compared with sCr in general hypertensive population.

Molecular pathways that drive diabetic kidney disease.

Kidney disease is a major driver of mortality among patients with diabetes and diabetic kidney disease (DKD) is responsible for close to half of all chronic kidney disease cases. DKD usually develops in a genetically susceptible individual as a result of poor metabolic (glycemic) control. Molecular and genetic studies indicate the key role of podocytes and endothelial cells in driving albuminuria and early kidney disease in diabetes. Proximal tubule changes show a strong association with the glomerular filtration rate. Hyperglycemia represents a key cellular stress in the kidney by altering cellular metabolism in endothelial cells and podocytes and by imposing an excess workload requiring energy and oxygen for proximal tubule cells. Changes in metabolism induce early adaptive cellular hypertrophy and reorganization of the actin cytoskeleton. Later, mitochondrial defects contribute to increased oxidative stress and activation of inflammatory pathways, causing progressive kidney function decline and fibrosis. Blockade of the renin-angiotensin system or the sodium-glucose cotransporter is associated with cellular protection and slowing kidney function decline. Newly identified molecular pathways could provide the basis for the development of much-needed novel therapeutics.

Triglyceride content of lipoprotein subclasses and kidney hemodynamic function and injury in adolescents with type 1 diabetes

AimsElevated triglycerides (TG) are associated with development and progression of kidney disease, and TG distributions across lipoprotein subclasses predict kidney dysfunction in adults with type 1 diabetes (T1D). Little is known regarding these relationships in youth. MethodsIn this single center study conducted from October 2018–2019, lipid constituents from lipoprotein subclasses were quantified by targeted nuclear magnetic resonance spectroscopy. Glomerular filtration rate (GFR), renal plasma flow (RPF), afferent arteriolar resistance (RA), efferent arteriolar resistance (RE), intraglomerular pressure (PGLO), urine albumin-to-creatinine ratio (UACR), and chitinase-3-like protein 1 (YKL-40), a marker of kidney tubule injury, were assessed. Cross-sectional relationships were assessed by correlation and multivariable linear regression (adjusted for age, sex, HbA1c) models. ResultsFifty youth with T1D (age 16 ± 3 years, 50 % female, HbA1c 8.7 ± 1.3 %, T1D duration 5.7 ± 2.6 years) were included. Very-low-density lipoprotein (VLDL)-TG concentrations correlated and associated with intraglomerular hemodynamic function markers including GFR, PGLO, UACR, as did small low-density lipoprotein (LDL)-TG and small high-density lipoprotein (HDL)-TG. YKL-40 correlated with all lipoprotein subclasses. ConclusionTG within lipoprotein subclasses, particularly VLDL, associated with PGLO, GFR, albuminuria, and YKL-40. Lipid perturbations may serve as novel targets to mitigate early kidney disease.

Urinary Citrate Is Associated with Kidney Outcomes in Early Polycystic Kidney Disease.

Low urinary citrate and crystal deposition accelerated cystogenesis in an experimental model of polycystic kidney disease (PKD).Hypocitraturia, frequently observed in patients with autosomal dominant PKD (ADPKD) could contribute to disease progression.Present findings suggest lower urinary citrate in early PKD was associated with faster eGFR decline and worse kidney survival.

Urinary Citrate Is Associated With Kidney Outcomes in Early Polycystic Kidney Disease

Urinary Citrate Is Associated With Kidney Outcomes in Early Polycystic Kidney Disease

A case report of invasive infantile primary hyperoxaluria type 1 and literature review.

Infantile primary hyperoxaluria type 1 (PH1) is the most devastating primary hyperoxaluria (PH) subtype as it leads to early end-stage kidney disease (ESKD) associated with high mortality. We report a case of a three-month-old female Chinese infant who was diagnosed with PH1 by renal biopsy and genetic studies. She carried two heterozygous mutations in the alanine-glyoxylate and serine pyruvate aminotransferase (AGXT) gene, one of which has never been previously reported. The patient had multiple organ failures caused by kidney failure, which was improved by extracorporeal membrane oxygenation and continuous renal replacement therapy. However, her primary disease responded poorly to conservative treatment. Fortunately, after waiting for four months, the patient underwent a successful combined liver-kidney transplantation and has progressed well so far. This case highlights the importance of suspecting PH in infant patients with ESKD of uncertain etiology, as early initiation of therapy prevents poor outcomes.

Early Autosomal-Dominant Polycystic Kidney Disease is Related to Liver and Cyst Volumes, Hepatic Parenchyma Volume, and Patient-Reported Effects

Aim: Polycystic liver infections are the most prevalent extra renal manifestation of autosomal-dominant polycystic kidney disease (PKD). People are living longer and there are more chances of spread on infections and these infections may cause different diseases but these can be improved by providing the proper knowledge among the lay men and control over these diseases can be made like better kidney survival, less death from heart disease, new treatments for kidney transplants, and more people with polycystic liver failure. There is a lack of research that completely characterizes PKD in big cohorts. Many other researchers has also been made to observe the size of the liver and the number of cysts which are linked to the size of the hepatic parenchyma, but this study is the specific to the polycystic kidney disease and its effect over the liver with the volume of cyst. This is the only studyin the region. . Methods: cross-sectional studies has been conducted to investigate the relationship between the initial volumes of the liver which was determined by MRI, and the patient’s demographics, the outcomes of these results also depends upon the quality of life of the patients. This research was conducted from January 2021 to June 2021 at Mayo Hospital, Lahore Pakistan. The information is gathered from the randomized, placebo-controlled trial that is currently being conducted at five tertiary-care medical facilities. In this the comparison was made between the groups of angiotensin I–converting enzyme inhibitor and an angiotensin II–receptor blocker. These findings were based on the normal situation o fthe blood [ressure. Because normal blood pressure related with the proper renal functioning. These tests were performed for 558 patients with ADPK (age, 16–50 y). Practical implication: We can easily implement these findings to PKD in hospitals and find the best treatment method according to this. Results: The significant level of hepatomegaly was seen in number of individuals diagnosed with ADPKD. Hepatomegaly was also existed in cysts as well as parenchyma. Cysts were found more often in women, and both the liver and cyst sizes were observed to be larger in women with the increase in age. Patients whose illness had progressed significantly demonstrated a significant reduction in the situation of liver parenchyma. In this study some minor irregularities were noticed in the results of laboratory testing on the liver, and splenomegaly and hypersplenism remained related to the severity of PLD. Inferior quality of life was connected with having a larger amount of damage in the liver tissue. Conclusion: Even in the earliest stages of ADPKD, hepatomegaly is rather prevalent, and it cannot be diagnosed properly just by the presence of cysts. Even for those who didn't have cysts, parenchymal volumes have been discovered to be substantially bigger than liver volumes in people without ADPKD or these predicted by basic tests performed in the specific laboratories. The harshness of PLD remained linked to changed biochemical also hematologic characteristics, in addition to a worse quality of life in patients. Keywords: Hepatomegaly, Polycystic liver infections, extra-renal manifestation, autosomal-dominant polycystic kidney diseases.

Development and validation of algorithms to identify patients with chronic kidney disease and related chronic diseases across the Northern Territory, Australia

BackgroundElectronic health records can be used for population-wide identification and monitoring of disease. The Territory Kidney Care project developed algorithms to identify individuals with chronic kidney disease (CKD) and several commonly comorbid chronic diseases. This study aims to describe the development and validation of our algorithms for CKD, diabetes, hypertension, and cardiovascular disease. A secondary aim of the study was to describe data completeness of the Territory Kidney Care database.MethodsThe Territory Kidney Care database consolidates electronic health records from multiple health services including public hospitals (n = 6) and primary care health services (> 60) across the Northern Territory, Australia. Using the database (n = 48,569) we selected a stratified random sample of patients (n = 288), which included individuals with mild to end-stage CKD. Diagnostic accuracy of the algorithms was tested against blinded manual chart reviews. Data completeness of the database was also described.ResultsFor CKD defined as CKD stage 1 or higher (eGFR of any level with albuminuria or persistent eGFR < 60 ml/min/1.732, including renal replacement therapy) overall algorithm sensitivity was 93% (95%CI 89 to 96%) and specificity was 73% (95%CI 64 to 82%). For CKD defined as CKD stage 3a or higher (eGFR < 60 ml/min/1.732) algorithm sensitivity and specificity were 93% and 97% respectively. Among the CKD 1 to 5 staging algorithms, the CKD stage 5 algorithm was most accurate with > 99% sensitivity and specificity. For related comorbidities – algorithm sensitivity and specificity results were 75% and 97% for diabetes; 85% and 88% for hypertension; and 79% and 96% for cardiovascular disease.ConclusionsWe developed and validated algorithms to identify CKD and related chronic diseases within electronic health records. Validation results showed that CKD algorithms have a high degree of diagnostic accuracy compared to traditional administrative codes. Our highly accurate algorithms present new opportunities in early kidney disease detection, monitoring, and epidemiological research.