MO052COL4A3/COL4A4 AS A CAUSE OF MULTICYSTIC KIDNEY DISEASE

2021 ◽  
Vol 36 (Supplement_1) ◽  
Author(s):  
Teresa Bada Bosch ◽  
Angel Sevillano ◽  
Sara Afonso ◽  
Eduardo Gutierrez ◽  
Teresa Cavero Escribano ◽  
...  
Keyword(s):  
Risk Factor ◽  
Kidney Disease ◽  
Basement Membrane ◽  
Basement Membrane Thickness ◽  
Baseline Serum ◽  
Benign Condition ◽  
Multicystic Kidney ◽  
Number Of Patients ◽  
Multicystic Kidney Disease

Abstract Background and Aims Thin basement membrane nephropathy (TBMN), the most common cause of persistent microhaematuria (mH), is due to mutations in genes codifying alfa-3 and alfa-4 collagen IV chains (COL4A4/COL4A3). Initially considered as a benign condition, subsequent studies have shown that an important number of patients develop proteinuria and CKD. We reported in a previous small study the presence of multicystic kidney disease (MCD) in some TBMD patients. In this study we aimed to evaluate the presence of MCD in a larger cohort of TBMD patients and analyze its association with renal outcomes. Method We collected 50 patients with a diagnosis of TBMD based on the presence of persistent mH (>5 erythocytes per high power field in more than 90% of urinary sediments and radiological examinations to exclude other causes of mH) and at least one first-degree relative with persistent mH. TBMD diagnosis was confirmed by renal biopsy (glomerular basement membrane thickness less than 150nm) in 18 patients and by genetic test (pathogenic mutations in COL4A3/COL4A4) in 6 patients. MCD was diagnosed by the presence of uncountable cysts on renal ultrasonography. Results Mean age at diagnosis was 43.7 years, 34% were males and 18% had hypertension. At baseline, serum creatinine (SCr) was 0.9 mg/dL, proteinuria 0.48 gr/24h and 9 patients (18%) had CKD (estimated glomerular filtration rate -eGFR- lower than <60 mL/min/1.73m2). 7 patients (14%) had CKD G3 and 2 (4%) CKD G4. Kidney cysts were found in 34 patients (68%) and 19 (38%) met MCD criteria. After a mean follow-up of 14.7±11.5 years, 23 patients (46%) had CKD. Among them, 17 patients (34%) had CKD G3, 2 (4%) CKD G4, and 4 (8%) CKD G5. Hypertension was more frequent among CKD patients as compared with no-CKD patients (39 vs 0%, p 0.00), proteinuria was higher (0.58±0.68 vs 0.39±0.58 g/24h, p 0.05) and MCD more frequent (65.2% vs 14.8%, p 0.00). Patients with MCD had higher SCr (2.1 vs 1.1 mg/dL, p 0.004) and lower eGFR (41.7 vs 77.2 mL/min/1.73m2, p 0.00) at the end of follow-up, and MCD was the only risk factor for the occurrence of CKD (OR 6.49, 95% CI 1.3-31.6) by multivariable analysis that included age, hypertension and proteinuria. Conclusion MCD is frequently observed in TBMD patients and is a risk factor for the progression of CKD.

scholarly journals The effect of baseline serum uric acid on chronic kidney disease in normotensive, normoglycemic, and non-obese individuals: A health checkup cohort study

PLoS ONE ◽  
2021 ◽  
Vol 16 (1) ◽  
pp. e0244106
Author(s):  
Young-Bin Son ◽  
Ji Hyun Yang ◽  
Myung-Gyu Kim ◽  
Sang Kyung Jo ◽  
Won Yong Cho ◽  
...  
Keyword(s):  
Chronic Kidney Disease ◽  
Uric Acid ◽  
Risk Factor ◽  
Kidney Disease ◽  
Serum Uric Acid ◽  
Independent Risk Factor ◽  
Baseline Serum ◽  
Increased Risk ◽  
Egfr Decline

Introduction The independent role of serum uric acid (SUA) on kidney disease is controversial due to its association with metabolic syndrome. The objective of this study was to investigate the association of baseline SUA with development of chronic kidney disease and eGFR decline in normotensive, normoglycemic and non-obese individuals during follow up period. Materials and methods We included non-hypertensitive, non-diabetic, and non-obese 13,133 adults with estimated glomerular filtration rate (eGFR) ≥ 60ml/min/1.73m2 who had a voluntary health check-up during 2004–2017. Results SUA was positively related to adjusted means of systolic blood pressure (SBP), triglyceride, body mass index, and body fat percent. SUA was inversely associated with high density lipoprotein HDL (P for trend ≤0.001). SUA was an independent risk factor for the development of diabetes, hypertension, and obesity. During 45.0 [24.0–76.0] months of median follow up, the highest quartiles of SUA showed significant risks of 30% eGFR decline compared than the lowest quartile (RR:3.701; 95% CI: 1.504–9.108). The highest quartile had a 2.2 fold (95% CI: 1.182–4.177) increase in risk for incident chronic kidney disease (CKD). Conclusions SUA is an independent risk factor for the development of diabetes, hypertension, and obesity in the healthy population. High SUA is associated with increased risk of CKD development and eGFR decline in participants with intact renal function.

scholarly journals Fetal multicystic kidney disease: Outcome and follow up

2010 ◽  
Vol 63 (3-4) ◽  
pp. 262-266 ◽  
Author(s):  
Sonja Pop-Trajkovic ◽  
Aleksandar Ljubic ◽  
Vesna Kopitovic ◽  
Vladimir Antic ◽  
Jelena Milosevic ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Diagnostic Procedures ◽  
Multicystic Dysplastic Kidney ◽  
Mortality And Morbidity ◽  
Contralateral Kidney ◽  
Multicystic Kidney ◽  
Dysplastic Kidney ◽  
Operative Findings ◽  
Multicystic Kidney Disease

Introduction Congenital fetal anomalies are the great problem and one of the main causes of increased perinatal mortality and morbidity. The aim of this study is to determine the outcome of prenataly detected multicystic dysplastic kidney and to point to the necessity of postnatal diagnostic procedures. Material and methods The retrospective-prospective study encompasses 38 cases of the prenatally diagnosed unilateral fetal multicystic dysplastic kidney. The associated anomalies were revealed either by autopsy findings when the pregnancy was terminated, or when the pregnancy continued, by clinical and operative findings the newborns. Results The autopsy finding revealed bilateral multicystic displastic kidney or unilateral mylticystic displastic kidney and the agenesis of the contralateral kidney. The postnatal evaluation of the newborns with unilateral multicistic disease revealed that 84.3% of them had some concomitant anomaly of the urinary tract, most of them had an anomaly of the contralateral kidney (31.4%). The surgery was performed in 73.6% of children, in 17% of children the kidney function deteriorated after the surgery. Conclusion The findings of bilateral multicystic kidney disease and unilateral multicystic kidney disease and anamnion are the indication to terminate the pregnancy. The finding of an isolated unilateral multicystic dysplastic kidney require thorough examination, both prenatally and postnatally. We propose obligatory serial prenatal ultrasound examinations, followed by postnatal ultrasound, isotope scan, and urinary cystourethography.

scholarly journals Cardiovascular risk factors during cancer treatment: prevalence, incidence and prognostic relevance

2020 ◽  
Vol 41 (Supplement_2) ◽  
Author(s):  
J Caro Codon ◽  
T Lopez-Fernandez ◽  
C Alvarez-Ortega ◽  
P Zamora Aunon ◽  
I Rodriguez Rodriguez ◽  
...  
Keyword(s):  
Risk Factors ◽  
Risk Factor ◽  
Cardiovascular Risk ◽  
Cancer Therapy ◽  
Cancer Patients ◽  
Individual Risk ◽  
Funding Source ◽  
Number Of Patients ◽  
All Cause Mortality

Abstract Background The actual usefulness of CV risk factor assessment in the prognostic evaluation of cancer patients treated with cardiotoxic treatment remains largely unknown. Design Prospective multicenter study in patients scheduled to receive anticancer therapy related with moderate/high cardiotoxic risk. Methods A total of 1324 patients underwent follow-up in a dedicated cardio-oncology clinic from April 2012 to October 2017. Special care was given to the identification and control of CV risk factors. Clinical data, blood samples and echocardiographic parameters were prospectively collected according to protocol, at baseline before cancer therapy and then at 3 weeks, 3 months, 6 months, 1 year, 1.5 years and 2 years after initiation of cancer therapy. Results At baseline, 893 patients (67.4%) presented at least 1 risk factor, with a significant number of patients newly diagnosed during follow-up. Individual risk factors were not related with worse prognosis during a 2-year follow-up. However, a higher Systemic Coronary Risk Estimation (SCORE) was significantly associated with higher rates of severe cardiotoxicity and all-cause mortality [HR 1.79 (95% CI 1.16–2.76) for SCORE 5–9 and HR 4.90 (95% CI 2.44–9.82) for SCORE ≥10 when compared with patients with lower SCORE (0–4)]. Conclusions This large cohort of patients treated with a potentially cardiotoxic regimen showed a significant prevalence of CV risk factors at baseline and significant incidence during follow-up. Baseline cardiovascular risk assessment using SCORE predicted severe cardiotoxicity and all-cause mortality. Therefore, its use should be recommended in the evaluation of cancer patients. Funding Acknowledgement Type of funding source: Public grant(s) – National budget only. Main funding source(s): This study was partially funded by the Fondo Investigaciones Sanitarias (Spain), Centro de Investigaciόn Biomédica en Red Cardiovascular CIBER-CV (Spain)

Multicystic Kidney Disease

Radiology ◽  
1967 ◽  
Vol 89 (5) ◽  
pp. 857-860 ◽  
Author(s):  
Anthony F. Lalli
Keyword(s):  
Kidney Disease ◽  
Multicystic Kidney ◽  
Multicystic Kidney Disease

scholarly journals HMOX1 and Acute Kidney Injury in Sickle Cell Anemia

Blood ◽  
2017 ◽  
Vol 130 (Suppl_1) ◽  
pp. 686-686
Author(s):  
Santosh L. Saraf ◽  
Maya Viner ◽  
Ariel Rischall ◽  
Binal Shah ◽  
Xu Zhang ◽  
...  
Keyword(s):  
Chronic Kidney Disease ◽  
Acute Kidney Injury ◽  
Risk Factor ◽  
Kidney Disease ◽  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
Kidney Injury ◽  
Ckd Progression ◽  
Kdigo Guidelines

Abstract Acute kidney injury (AKI) is associated with tubulointerstitial fibrosis and nephron loss and may lead to an increased risk for subsequently developing chronic kidney disease (CKD). In adults with sickle cell anemia (SCA), high rates of CKD have been consistently observed, although the incidence and risk factors for AKI are less clear. We evaluated the incidence of AKI, defined according to Kidney Disease Improving Global Outcomes (KDIGO) guidelines as a rise in serum creatinine by ≥0.3mg/dL within 48 hours or ≥1.5 times baseline within seven days, in 158 of 299 adult SCA patients enrolled in a longitudinal cohort from the University of Illinois at Chicago. These patients were selected based on the availability of genotyping for α-thalassemia, BCL11A rs1427407, APOL1 G1/G2, and the HMOX1 rs743811 and GT-repeat variants. Median values and interquartile range (IQR) are provided. With a median follow up time of 66 months (IQR, 51-74 months), 137 AKI events were observed in 63 (40%) SCA patients. AKI was most commonly observed in the following settings: acute chest syndrome (25%), an uncomplicated vaso-occlusive crisis (VOC)(24%), a VOC with pre-renal azotemia determined by a fractional excretion of sodium <1% or BUN-to-creatinine ratio >20:1 (14%), or a VOC with increased hemolysis, defined as an increase in serum LDH or indirect bilirubin level >1.5 times over the baseline value at the time of enrollment (12%). Compared to individuals who did not develop AKI, SCA adults who developed an AKI event were older (AKI: median and IQR age of 35 (26-46) years, no AKI: 28 (23 - 26) years; P=0.01) and had a lower estimated glomerular filtration rate (eGFR) (AKI: median and IQR eGFR of 123 (88-150) mL/min/1.73m2, no AKI: 141 (118-154) mL/min/1.73m2; P=0.02) by the Kruskal-Wallis test at the time of enrollment. We evaluated the association of a panel of candidate gene variants with the risk of developing an AKI event. These included loci related to the degree of hemolysis (α-thalassemia, BCL11A rs1427407), to chronic kidney disease (APOL1 G1/G2 risk variants), and to heme metabolism (HMOX1) . Using a logistic regression model that adjusted for age and eGFR at the time of enrollment, the risk of an AKI event was associated with older age (10-year OR 2.6, 95%CI 1.4-4.8, P=0.002), HMOX1 rs743811 (OR 3.1, 95%CI 1.1-8.7, P=0.03), and long HMOX1 GT-repeats, defined as >25 repeats (OR 2.5, 95%CI 1.01-6.1, P=0.04). Next, we assessed whether AKI is associated with a more rapid decline in eGFR and with CKD progression, defined as a 50% reduction in eGFR, on longitudinal follow up. Using a mixed effects model that adjusted for age and eGFR at the time of enrollment, the rate of eGFR decline was significantly greater in those with an AKI event (β = -0.51) vs. no AKI event (β = -0.16) (P=0.03). With a median follow up time of 66 months (IQR, 51-74 months), CKD progression was observed in 21% (13/61) of SCA patients with an AKI event versus 9% (8/88) without an AKI event. After adjusting for age and eGFR at the time of enrollment, the severity of an AKI event according to KDIGO guidelines (stage 1 if serum creatinine rises 1.5-1.9 times baseline, stage 2 if the rise is 2.0-2.9 times baseline, and stage 3 if the rise is ≥3 times baseline or ≥4.0 mg/dL or requires renal replacement therapy) was a risk factor for CKD progression (unadjusted HR 1.6, 95%CI 1.1-2.3, P=0.02; age- and eGFR-adjusted HR 1.6, 95%CI 1.1-2.5, P=0.03). In conclusion, AKI is commonly observed in adults with sickle cell anemia and is associated with increasing age and the HMOX1 GT-repeat and rs743811 polymorphisms. Furthermore, AKI may be associated with a steeper decline in kidney function and more severe AKI events may be a risk factor for subsequent CKD progression in SCA. Future studies understanding the mechanisms, consequences of AKI on long-term kidney function, and therapies to prevent AKI in SCA are warranted. Disclosures Gordeuk: Emmaus Life Sciences: Consultancy.

scholarly journals HEROIC: a 5-year observational cohort study aimed at identifying novel factors that drive diabetic kidney disease: rationale and study protocol

BMJ Open ◽  
2020 ◽  
Vol 10 (9) ◽  
pp. e033923
Author(s):  
Kieran Mccafferty ◽  
Ben Caplin ◽  
Sinead Knight ◽  
Paul Hockings ◽  
David Wheeler ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Observational Study ◽  
Diabetic Kidney Disease ◽  
Laboratory Data ◽  
Premature Mortality ◽  
Primary Objective ◽  
Imaging Data ◽  
Diabetic Kidney ◽  
Number Of Patients

IntroductionDiabetic kidney disease (DKD) is the leading cause of end-stage kidney disease worldwide and a major cause of premature mortality in diabetes mellitus (DM). While improvements in care have reduced the incidence of kidney disease among those with DM, the increasing prevalence of DM means that the number of patients worldwide with DKD is increasing. Improved understanding of the biology of DKD and identification of novel therapeutic targets may lead to new treatments. A major challenge to progress has been the heterogeneity of the DKD phenotype and renal progression. To investigate the heterogeneity of DKD we have set up The East and North London Diabetes Cohort (HEROIC) Study, a secondary care-based, multiethnic observational study of patients with biopsy-proven DKD. Our primary objective is to identify histological features of DKD associated with kidney endpoints in a cohort of patients diagnosed with type 1 and type 2 DM, proteinuria and kidney impairment.Methods and analysisHEROIC is a longitudinal observational study that aims to recruit 500 patients with DKD at high-risk of renal and cardiovascular events. Demographic, clinical and laboratory data will be collected and assessed annually for 5 years. Renal biopsy tissue will be collected and archived at recruitment. Blood and urine samples will be collected at baseline and during annual follow-up visits. Measured glomerular filtration rate (GFR), echocardiography, retinal optical coherence tomography angiography and kidney and cardiac MRI will be performed at baseline and twice more during follow-up. The study is 90% powered to detect an association between key histological and imaging parameters and a composite of death, renal replacement therapy or a 30% decline in estimated GFR.Ethics and disseminationEthical approval has been obtained from the Bloomsbury Research Ethics Committee (REC 18-LO-1921). Any patient identifiable data will be stored on a password-protected National Health Services N3 network with full audit trail. Anonymised imaging data will be stored in a ISO27001-certificated data warehouse.Results will be reported through peer-reviewed manuscripts and conferences and disseminated to participants, patients and the public using web-based and social media engagement tools as well as through public events.

Cornelia De Lange Syndrome with Additional Clinical Features and Multicystic Kidney Disease

2013 ◽  
Vol 81 (2) ◽  
pp. 194-195 ◽  
Author(s):  
Jaiprakash Narayan Meghwal ◽  
Achala Arya ◽  
B. S. Karnawat ◽  
Suchitra Narayan
Keyword(s):  
Kidney Disease ◽  
Clinical Features ◽  
Cornelia De Lange Syndrome ◽  
Multicystic Kidney ◽  
Cornelia De Lange ◽  
Multicystic Kidney Disease

scholarly journals An Elderly Comorbid Patient with Atrial Fibrillation: What is Important to Know and What Should be Considered When Prescribing Anticoagulants?

2020 ◽  
Vol 16 (6) ◽  
pp. 1031-1038
Author(s):  
T. V. Pavlova
Keyword(s):  
Atrial Fibrillation ◽  
Chronic Kidney Disease ◽  
Kidney Disease ◽  
Randomized Clinical Trials ◽  
Simple Algorithm ◽  
Cardiovascular Complications ◽  
Efficacy And Safety ◽  
Risk Of Bleeding ◽  
Number Of Patients

Anticoagulant therapy in elderly patients with atrial fibrillation and concomitant diseases is often the challenge for clinicians. The high risk of stroke is inherent in atrial fibrillation, and it increases when combined with coronary heart disease and chronic kidney disease. On the other hand, the comorbidity increases the risk of bleeding. Older age is also the risk factor of thrombotic and hemorrhagic complications. As a consequence, the choice of specific anticoagulant should be based on a solid evidences, obtained both from randomized clinical trials and from daily clinical practice. In the ROCKET AF trail the direct oral anticoagulant rivaroxaban showed a tendency to reduce the risk of thromboembolism by 20% compared with warfarin in the patients aged 75 years and older. The safety of rivaroxaban has been evaluated in the XANTUS POOLED program. According to the follow-up results for 12 months, more than 96% of patients didn't have any adverse event, and the number of patients with major bleeding was 1.5%. Several meta-analyzes reported a reduction of cardiovascular complications in patients treated by rivaroxaban. In the ROCKET AF trail, a “renal” dose of rivaroxaban (15 mg OD) was studied in patients with chronic kidney disease. The efficacy and safety of rivaroxaban were validated in this patients, and a simple algorithm for selecting the dose of this drug in patients with chronic kidney disease was provided. 

Sign in / Sign up

Export Citation Format

Share Document