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Kidney International Jan 2021Cystinuria (OMIM 220100) is an autosomal recessive hereditary disorder in which high urinary cystine excretion leads to the formation of cystine stones because of the...
Cystinuria (OMIM 220100) is an autosomal recessive hereditary disorder in which high urinary cystine excretion leads to the formation of cystine stones because of the low solubility of cystine at normal urinary pH. We developed clinical practice recommendation for diagnosis, surgical and medical treatment, and follow-up of patients with cystinuria. Elaboration of these clinical practice recommendations spanned from June 2018 to December 2019 with a consensus conference in January 2019. Selected topic areas were chosen by the co-chairs of the conference. Working groups focusing on specific topics were formed. Group members performed systematic literature review using MEDLINE, drafted the statements, and discussed them. They included geneticists, medical biochemists, pediatric and adult nephrologists, pediatric and adult urologists experts in cystinuria, and the Metabolic Nephropathy Joint Working Group of the European Reference Network for Rare Kidney Diseases (ERKNet) and eUROGEN members. Overall 20 statements were produced to provide guidance on diagnosis, genetic analysis, imaging techniques, surgical treatment (indication and modalities), conservative treatment (hydration, dietetic, alkalinization, and cystine-binding drugs), follow-up, self-monitoring, complications (renal failure and hypertension), and impact on quality of life. Because of the rarity of the disease and the poor level of evidence in the literature, these statements could not be graded. This clinical practice recommendation provides guidance on all aspects of the management of both adults and children with cystinuria, including diagnosis, surgery, and medical treatment.
Topics: Adult; Child; Consensus; Cystine; Cystinuria; Humans; Kidney; Quality of Life
PubMed: 32918941
DOI: 10.1016/j.kint.2020.06.035 -
Archivos Espanoles de Urologia Jan 2021Nutrition is tightly associated with the risk of stone events. A part from genetic predisposition, a correct and balanced diet might prevent incident kidney stones....
Nutrition is tightly associated with the risk of stone events. A part from genetic predisposition, a correct and balanced diet might prevent incident kidney stones. Several studies analyzed each dietary component and different diets to better understand their impact on stone recurrence. Fluids: High fluids intake is the most important factor for preventing kidney stones disease and for every 200 mL of water, the risk of stones is reduced by 13%. Soft drinks seems to be associated to a greater risk of stone events, whereas caffeine and citrus fruits juice are not. Calcium: Normally calcium intake with diet does not exceed 1.2 g/day. A balanced consumption of dairy products is capable of reducing oxalate intestinal absorption and urinary excretion compared to low calcium diet, being protective for stone disease. Oxalate: The exact amount of oxalate contained in different foods is difficult to estimate for its variability, even in the same aliment. In addition, the amount of oxalate consumed was shown to be only a minor risk factor for stone disease, whereas its intestinal absorption is strongly influenced by external factors, such as calcium intake. Dietary oxalate restriction is advisable only in patients with known elevated consumption. Sodium: High sodium intake is both associated with hypertension, heart disease and stone risk. Increased sodium consumption is directly associated to hypercalciuria in both calcium stone formers and healthy subjects. Although dietary sodium restriction to recommended values is always desirable in stone formers, it is difficult to achieve for its broad use in food preparation. Proteins: Animal proteins are associated to increased risk for stone formation, whereas vegetable and dairy proteins are not. Increased meat intake was associated to acidic urine pH, negative calcium balance and reduced anti-lithogenic urinary solutes excretion.Fruits and vegetables: Alkalizing foods are one of the most important factors for stone protection. Their consumption increases anti-lithogenic solutes as citrate, potassium and magnesium. A diet rich in fruits and vegetables is strongly recommended for stone formers. Uric acid: Elevated meat consumption is either associated to increased purine metabolism and acid load, favoring uric acid nephrolithiasis by reducing urine pH and increasing urinary excretion of uric acid, especially in patients affected by metabolic syndrome and diabetes.In conclusion, the most effective diet for stone protection is rich in fruits and vegetables, low in animal proteins and salt, with balanced dairy product consumption and obviously, with elevated fluid intake. These characteristics make vegetarian and Mediterranean diets protective and useful for stone formers, whereas western diet is at risk for stone formation.
Topics: Calcium; Calcium, Dietary; Dietetics; Humans; Kidney Calculi; Life Style; Sodium, Dietary
PubMed: 33459627
DOI: No ID Found -
Journal of Translational Medicine Sep 2023Owing to the heterogeneity of Alzheimer's disease (AD), its pathogenic mechanisms are yet to be fully elucidated. Evidence suggests an important role of metabolism in...
BACKGROUND
Owing to the heterogeneity of Alzheimer's disease (AD), its pathogenic mechanisms are yet to be fully elucidated. Evidence suggests an important role of metabolism in the pathophysiology of AD. Herein, we identified the metabolism-related AD subtypes and feature genes.
METHODS
The AD datasets were obtained from the Gene Expression Omnibus database and the metabolism-relevant genes were downloaded from a previously published compilation. Consensus clustering was performed to identify the AD subclasses. The clinical characteristics, correlations with metabolic signatures, and immune infiltration of the AD subclasses were evaluated. Feature genes were screened using weighted correlation network analysis (WGCNA) and processed via Gene Ontology and Kyoto Encyclopedia of Genes and Genomes pathway analyses. Furthermore, three machine-learning algorithms were used to narrow down the selection of the feature genes. Finally, we identified the diagnostic value and expression of the feature genes using the AD dataset and quantitative reverse-transcription polymerase chain reaction (qRT-PCR) analysis.
RESULTS
Three AD subclasses were identified, namely Metabolism Correlated (MC) A (MCA), MCB, and MCC subclasses. MCA contained signatures associated with high AD progression and may represent a high-risk subclass compared with the other two subclasses. MCA exhibited a high expression of genes related to glycolysis, fructose, and galactose metabolism, whereas genes associated with the citrate cycle and pyruvate metabolism were downregulated and associated with high immune infiltration. Conversely, MCB was associated with citrate cycle genes and exhibited elevated expression of immune checkpoint genes. Using WGCNA, 101 metabolic genes were identified to exhibit the strongest association with poor AD progression. Finally, the application of machine-learning algorithms enabled us to successfully identify eight feature genes, which were employed to develop a nomogram model that could bring distinct clinical benefits for patients with AD. As indicated by the AD datasets and qRT-PCR analysis, these genes were intimately associated with AD progression.
CONCLUSION
Metabolic dysfunction is associated with AD. Hypothetical molecular subclasses of AD based on metabolic genes may provide new insights for developing individualized therapy for AD. The feature genes highly correlated with AD progression included GFAP, CYB5R3, DARS, KIAA0513, EZR, KCNC1, COLEC12, and TST.
Topics: Humans; Alzheimer Disease; Algorithms; Citrates; Citric Acid; Cluster Analysis; Shaw Potassium Channels; Nerve Tissue Proteins
PubMed: 37715200
DOI: 10.1186/s12967-023-04324-y -
Ugeskrift For Laeger Apr 2023Kidney stone disease is rapidly increasing with a strong relationship to metabolic syndrome. This review gives a brief overview of the current state and current... (Review)
Review
Kidney stone disease is rapidly increasing with a strong relationship to metabolic syndrome. This review gives a brief overview of the current state and current treatment modalities. Increasing use of CT and ultrasound scans leads to increased diagnosis of asymptomatic kidney stones, which rarely require treatment. The trend in stone treatment goes towards endoscopic lithotripsy which together with ESWL enables a personalised approach. Obstructive stones with infection require urgent intervention to reduce mortality. Increased fluid intake, dietary changes as well as potassium citrate supplements are the most important elements in stone prevention in the common idiopathic stone disease.
Topics: Humans; Treatment Outcome; Kidney Calculi; Lithotripsy; Citric Acid
PubMed: 37057692
DOI: No ID Found -
Chinese Medical Journal Jul 2022High-dose dual therapy (HDDT) with proton pump inhibitors (PPIs) and amoxicillin has attracted widespread attention due to its favorable efficacy in eradicating... (Randomized Controlled Trial)
Randomized Controlled Trial
BACKGROUND
High-dose dual therapy (HDDT) with proton pump inhibitors (PPIs) and amoxicillin has attracted widespread attention due to its favorable efficacy in eradicating Helicobacter pylori (H. pylori). This study aimed to compare the efficacy and safety of high-dose PPI-amoxicillin dual therapy and bismuth-containing quadruple therapy for H. pylori rescue treatment.
METHODS
This was a prospective, randomized, multicenter, non-inferiority trial. Patients recruited from eight centers who had failed previous treatment were randomly (1:1) allocated to two eradication groups: HDDT (esomeprazole 40 mg and amoxicillin 1000 mg three times daily; the HDDT group) and bismuth-containing quadruple therapy (esomeprazole 40 mg, bismuth potassium citrate 220 mg, and furazolidone 100 mg twice daily, combined with tetracycline 500 mg three times daily; the tetracycline, furazolidone, esomeprazole, and bismuth [TFEB] group) for 14 days. The primary endpoint was the H. pylori eradication rate. The secondary endpoints were adverse effects, symptom improvement rates, and patient compliance.
RESULTS
A total of 658 patients who met the criteria were enrolled in this study. The HDDT group achieved eradication rates of 75.4% (248/329), 81.0% (248/306), and 81.3% (248/305) asdetermined by the intention-to-treat (ITT), modified intention-to-treat (MITT), and per-protocol (PP) analyses, respectively. The eradication rates were similar to those in the TFEB group: 78.1% (257/329), 84.2% (257/305), and 85.1% (257/302). The lower 95% confidence interval boundary (-9.19% in the ITT analysis, - 9.21% in the MITT analysis, and -9.73% in the PP analysis) was greater than the predefined non-inferiority margin of -10%, establishing a non-inferiority of the HDDT group vs. the TFEB group. The incidence of adverse events in the HDDT group was significantly lower than that in the TFEB group (11.1% vs. 26.8%, P < 0.001). Symptom improvement rates and patients' compliance were similar between the two groups.
CONCLUSIONS
Fourteen-day HDDT is non-inferior to bismuth-containing quadruple therapy, with fewer adverse effects and good treatment compliance, suggesting HDDT as an alternative for H. pylori rescue treatment in the local region.
TRIAL REGISTRATION
Clinicaltrials.gov, NCT04678492.
Topics: Amoxicillin; Anti-Bacterial Agents; Bismuth; Drug Therapy, Combination; Esomeprazole; Furazolidone; Helicobacter Infections; Helicobacter pylori; Humans; Potassium Citrate; Prospective Studies; Proton Pump Inhibitors; Tetracycline; Treatment Outcome
PubMed: 36193978
DOI: 10.1097/CM9.0000000000002289 -
Current Opinion in Nephrology and... Mar 2020Kidney stones are a common and preventable disorder. Certain occupations may increase risk for stone disease which will be discussed in this review. Few observational... (Review)
Review
PURPOSE OF REVIEW
Kidney stones are a common and preventable disorder. Certain occupations may increase risk for stone disease which will be discussed in this review. Few observational studies have examined this association.
RECENT FINDINGS
Some occupations prevent individuals from drinking enough fluids to maintain a dilute urine or to void when they need to. People may have poor access to fluids or to bathroom facilities. These issues pose a risk for stone disease and are exacerbated by those who work in warmer climates. Individuals who do more activity while working, especially outdoors, perspire more, leading to more concentrated urine. In more sedentary jobs, individuals are at a higher risk of metabolic syndrome and therefore have a higher risk for stones. Astronauts, who work in environments without gravity, mobilize calcium from bone, leading to a higher risk of stone disease.
SUMMARY
Proper fluid intake, more access to restrooms and increased use of potassium citrate may be the best options for those who encounter greater risk for stones because of their occupation.
Topics: Drinking; Humans; Kidney Calculi; Occupational Diseases
PubMed: 31895162
DOI: 10.1097/MNH.0000000000000581 -
Clinical Journal of the American... Oct 2023A potassium replete diet is associated with lower cardiovascular risk but may increase the risk of hyperkalemia, particularly in people using... (Randomized Controlled Trial)
Randomized Controlled Trial
BACKGROUND
A potassium replete diet is associated with lower cardiovascular risk but may increase the risk of hyperkalemia, particularly in people using renin-angiotensin-aldosterone system inhibitors. We investigated whether intracellular uptake and potassium excretion after an acute oral potassium load depend on the accompanying anion and/or aldosterone and whether this results in altered plasma potassium change.
METHODS
In this placebo-controlled interventional cross-over trial including 18 healthy individuals, we studied the acute effects of one oral load of potassium citrate (40 mmol), potassium chloride (40 mmol), and placebo in random order after overnight fasting. Supplements were administered after a 6-week period with and without lisinopril pretreatment. Linear mixed effect models were used to compare blood and urine values before and after supplementation and between the interventions. Univariable linear regression was used to determine the association between baseline variables and change in blood and urine values after supplementation.
RESULTS
During the 4-hour follow-up, the rise in plasma potassium was similar for all interventions. After potassium citrate, both red blood cell potassium-as measure of the intracellular potassium-and transtubular potassium gradient (TTKG)-reflecting potassium secretory capacity-were higher than after potassium chloride or potassium citrate with lisinopril pretreatment. Baseline aldosterone was significantly associated with TTKG after potassium citrate, but not after potassium chloride or potassium citrate with lisinopril pretreatment. The observed TTKG change after potassium citrate was significantly associated with urine pH change during this intervention ( R =0.60, P < 0.001).
CONCLUSIONS
With similar plasma potassium increase, red blood cell potassium uptake and kaliuresis were higher after an acute load of potassium citrate as compared with potassium chloride alone or pretreatment with lisinopril.
CLINICAL TRIAL REGISTRY NAME AND REGISTRATION NUMBER
Potassium supplementation in patients with chronic kidney disease and healthy subjects: effects on potassium and sodium balance, NL7618.
Topics: Humans; Potassium; Potassium Citrate; Potassium Chloride; Chlorides; Lisinopril; Aldosterone
PubMed: 37382933
DOI: 10.2215/CJN.0000000000000228