Search Results (473)

Variants in COL4A3 and COL4A4 cause autosomal dominant and recessive Alport syndrome, yet data on their distribution and clinical expression in different populations remain limited. This study investigated genotype–phenotype correlations and the distribution of COL4A3/COL4A4 variants in a Lithuanian Alport syndrome cohort. A total of 221 individuals from Lithuania were analyzed for COL4A3 and COL4A4 variants using either next-generation sequencing or Sanger sequencing in order to assess variant distribution and associated clinical features. Only individuals with pathogenic, likely pathogenic, or uncertain significance variants were included. Fifty-two individuals (38 index cases) with pathogenic, likely pathogenic, or variants of uncertain significance were identified, as follows: forty-eight were heterozygous, four had autosomal recessive, and four had digenic Alport syndrome. COL4A3 variants were found in 9.5% (21/221) and COL4A4 in 17.6% (39/221). Among the 28 identified variants, 18 were novel. Glycine substitutions (n = 8) were the most frequent and associated with worse kidney outcomes and increased hearing abnormalities. Hematuria was diagnosed significantly earlier than proteinuria (p = 0.05). Most individuals with autosomal dominant Alport syndrome had normal kidney function (eGFR > 90 mL/min/1.73 m²), while those with autosomal recessive Alport syndrome had more severe disease. Kidney failure occurred in 2/4 (50%) autosomal recessive Alport syndrome and 2/48 (4%) autosomal dominant Alport syndrome cases. A significant inverse correlation was found between eGFR and age in proteinuric individuals (r = –0.737; p = 0.013). This study expands knowledge of Alport syndrome in the Lithuanian population and contributes novel variant data to the global Alport syndrome genetic database. Full article

Polycystic liver disease (PLD) is a rare genetic disorder characterized by the development of >10 fluid-filled cysts in the liver. While PLD can occur in isolation, it is most commonly associated with autosomal dominant polycystic kidney disease, adding complexity to its management. PLD is often asymptomatic but can lead to hepatomegaly, causing symptoms such as abdominal distension, pain and discomfort, early satiety, gastroesophageal reflux, and malnutrition, ultimately affecting patients’ quality of life. Current treatment strategies, including pharmacological and interventional approaches, focus on reducing liver volume and alleviating symptoms. However, management remains largely symptomatic, as no definitive therapies exist to halt cyst progression. Liver transplantation is the only curative option for patients with severe, progressive disease and refractory complications. The EASL guidelines recognize that PLD-related symptoms, primarily due to hepatomegaly, can contribute to involuntary weight loss and recommend assessing symptomatic patients for malnutrition and sarcopenia. Although evidence suggests that patients with PLD may be at risk of malnutrition, original data on the quality and extent of nutritional alterations remain scarce. The potential influence of nutrition on disease progression, symptom burden, and overall well-being is also largely unexplored. Given these knowledge gaps, addressing nutritional challenges, such as early satiety, is essential for optimizing symptom management and maintaining overall nutritional status. This review outlines a possible pathophysiology of malnutrition, specific dietary considerations and recommendations, and weight management in patients with PLD. Additionally, dietary complexities in patients with concurrent renal involvement are discussed, offering a practical framework for clinicians and dietitians in managing this challenging condition. Full article

Obesity is currently one of the most critical public health problems. Although there is no doubt that obesity is a significant risk factor for developing metabolic disorders, this relationship is not completely straightforward. On the one hand, some patients affected by obesity are metabolically unhealthy, while others are metabolically healthy; on the other hand, metabolic syndrome (MetS) can also occur in people with a normal body weight. A commonly used tool for diagnosing obesity is the body mass index (BMI), but the search for better anthropometric measures is ongoing due to the significant limitations of this measure. Obesity can lead to MetS and cardiovascular diseases (CVDs). Adipose tissue dysfunction is the fundamental mechanism linking obesity and cardiometabolic diseases, which is rooted in the disturbed secretion of adipokines. The visceral adiposity index (VAI) is calculated based on the BMI, waist circumference (WC), blood triglycerides (TG), and high-density lipoprotein cholesterol (HDL-C) concentrations. It was proposed in 2010 by Amato et al. as a parameter indicating adipose tissue dysfunction and cardiometabolic risk. According to the research conducted so far, some data confirm a relationship between the VAI value and the risk of developing prediabetes, diabetes, insulin resistance, fatty liver disease, MetS, CVD, and chronic kidney disease. Further research is needed to support the implementation of VAI assessment in routine clinical practice. The purpose of this paper is to present the results of a narrative literature review summarizing current knowledge regarding the VAI and its usefulness in clinical practice for assessing cardiometabolic risk. Full article

Chronic kidney disease (CKD) remains a significant global health challenge, with its advanced stages necessitating timely and comprehensive patient education, particularly regarding kidney replacement therapy (KRT). Early initiation of education is crucial, as it enhances patient understanding and supports shared decision-making with healthcare teams, ultimately leading to better health outcomes. Evidence demonstrates that CKD education not only increases disease-specific knowledge, but also confers multiple benefits, including reduced healthcare utilization, greater adoption of self-management, delayed KRT initiation, improved survival, higher adherence to therapies, and increased transplant evaluation. Despite these advantages, a disconnect persists between the educational content desired by patients and what is prioritized by healthcare professionals. Structured educational interventions have been shown to improve patients’ ability to make informed decisions about KRT, with studies indicating that after targeted education, the vast majority of patients can articulate their therapy preferences. Furthermore, national and international guidelines highlight the necessity of embedding patient education as a core component of CKD care to empower patients and improve the quality of life. However, challenges remain, including disparities in access, health literacy, and the consistency of educational delivery. There is currently no standardized approach on how to effectively educate CKD patients. This review provides a comprehensive analysis of all aspects of pre-dialysis education and best practices for advanced CKD patient education. Full article

Diabetic vascular diseases have emerged as a significant concern in medical research due to their considerable impact on human health. The challenge lies in the insufficient understanding of the intricate pathophysiological mechanisms associated with different forms of diabetic vascular diseases, which hampers our ability to identify effective treatment targets. Addressing this knowledge gap is essential for developing successful interventions. Unraveling the molecular pathways through which diabetes leads to microvascular and macrovascular complications in vital organs such as the heart, brain, kidneys, retina, and extremities is crucial. Notably, oxidative stress resulting from hyperglycemia is the key factor in initiating these complications. This review aims to elucidate the specific molecular mechanisms by which oxidative stress drives microvascular and macrovascular diseases and to highlight promising therapeutic advancements that offer hope for effective treatment solutions. Full article

Background: Several recent studies have documented an increased cardiovascular risk in patients with primary hyperparathyroidism (PHPT), thereby stimulating interest in the association with uric acid (UA), a metabolite linked to cardiovascular disease and chronic kidney disease (CKD) progression, whose role in these conditions is still the subject of study. The aim of this review is to summarize the underlying pathophysiological mechanisms of the PHPT-UA relation and discuss their potential clinical implications. Methods: We conducted a comprehensive literature review, with a focus on the physiological and clinical aspects of the relationship between PHPT and UA. Results: The evidence in the literature supports the association between PHPT and elevated UA levels, although the underlying mechanisms still need to be elucidated. Key mechanisms seem to involve tubular and intestinal transporters, particularly the ABCG2 transporter, as well as indirect effects mediated by hypercalcemia and inflammatory processes. Conclusions: The association between PHPT and UA, though recognized for years, highlights the existence of linked pathophysiological mechanisms between mineral and purine metabolism. However, the current knowledge does not clarify whether uric acid plays an active role in the development of complications related to hyperparathyroidism or if it just represents an indirect marker of metabolic dysfunction. In the absence of specific guidelines, measuring UA levels to screen for hyperuricemia, especially in patients with additional risk factors, should be considered to prevent related complications. Future studies could clarify the role of UA in PHPT, improving our understanding of the disease and potentially leading to new therapeutic strategies to prevent cardiovascular, renal and joint manifestations. Full article

Heavy metal contamination, particularly lead (Pb) poisoning, is a significant public health issue worldwide. In Bangladesh, Pb contamination of water, soil, air, and food is detected alarmingly. Chronic exposure to Pb leads to severe health complications in the human body, including neurotoxicity, cardiovascular disease, developmental delays, and kidney damage. Research has established that there is “no safe level” of Pb exposure, as even minimal exposure can cause detrimental effects. Although existing physical and chemical methods are widely used, they come with limitations, such as high costs and the generation of toxic byproducts. As a green, sustainable alternative, the potential of probiotics as an effective biosorption agent has been explored to reduce Pb contamination in food, especially meat, while preserving its nutritional and sensory properties. This paper aims to integrate current knowledge from these two fields and highlight their capacity to decontaminate Pb-laden meat, the primary protein source in Bangladesh. The study also investigates optimal biosorption parameters, including temperature, pH, and exposure time, to enhance effectiveness. The proposed application of lactic acid bacteria (LAB) in meat processing and packaging is expected to significantly lower Pb levels in meat, ensuring safer consumption. Full article

The knowledge concerning mild-to-moderate renal toxicity of adjuvant chemotherapy (CTH) in colon cancer patients is scarce. We retrospectively evaluated changes in the estimated glomerular filtration rate (eGFR) after three months of adjuvant treatment and the overall renal risk of the 6-month regimen in 145 patients who completed three months of therapy at three oncological centers. A decrease in eGFR of at least 1.5 mL/min/1.73 m² after three months and 3.0 mL/min/1.73 m² after six months was considered relevant in terms of kidney-related cardiovascular risk. Out of 114 patients who completed a 6-month regimen, kidney function deterioration occurred in 62 (54.4%) after 3 months and in 54 (47.4%) after 6 months. Age ≥ 70 years (RR = 2.66; 95% CI: 1.15–6.16) and diabetes (RR = 2.52; 95% CI: 0.98–6.45) were risk factors for kidney outcomes during the first three months of CTH. However, renal function decline during the first three months did not increase the risk of further deterioration on CTH continuation. In conclusion, older age and diabetes are factors increasing the risk of renal function deterioration during adjuvant CTH in colon cancer patients without preexisting chronic kidney disease. However, the decline during the first three months does not allow for predicting further changes under continued adjuvant therapy. Full article

Faecal microbiota transplantation (FMT) has emerged as a transformative therapy in human medicine, particularly for managing recurrent Clostridioides difficile infections and other gastrointestinal (GI) disorders. Beyond the GI tract, FMT has shown potential in addressing extraintestinal conditions in people, including metabolic, immune-mediated, dermatological, neurological, and infectious diseases. Research in people has highlighted its efficacy in decolonising multidrug-resistant organisms in infection, mitigating autoimmune diseases, and improving outcomes in metabolic disorders such as obesity and diabetes. Furthermore, FMT has also been linked to enhanced responses to immunotherapy in cancer and improved management of hepatic and renal conditions. These findings underscore the intricate connections between the gut microbiome and systemic health, opening novel therapeutic avenues. In veterinary medicine, while FMT has demonstrated benefits for GI disorders, its application in extraintestinal diseases remains largely unexplored. Emerging evidence suggests that conditions such as atopic dermatitis, chronic kidney disease, immune-mediated diseases, and behavioural disorders in companion animals could benefit from microbiome-targeted therapies. However, significant gaps in knowledge persist, particularly regarding the long-term safety and efficacy for veterinary applications. This review synthesises findings from human medicine to assess their relevance for veterinary applications and future research. Full article

The liver and kidneys are two of the most vital organs, each with distinct but overlapping functions essential for maintaining homeostasis. The complex interplay between these organs, commonly referred to as liver-kidney crosstalk, plays a crucial role in the pathophysiology of several acute and chronic conditions in childhood. Despite its importance, the precise biological mechanisms driving this interaction remain incompletely understood. This crosstalk is particularly significant in various pediatric diseases (e.g., Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD), Hepatorenal Syndrome (HRS), genetic and metabolic disorders, etc.) where shared pathophysiological factors—including systemic inflammation, metabolic disturbances, oxidative stress, and vascular dysfunction—simultaneously affect both organs. Clinically, this interaction presents unique challenges in diagnosing, managing, and treating liver-kidney diseases in affected children. Understanding the pathogenic mechanisms underlying liver-kidney crosstalk is essential for improving patient care and outcomes through an integrated, multidisciplinary approach and personalized treatment strategies. This review aims to explore liver-kidney crosstalk in key pediatric diseases, offering a comprehensive overview of current knowledge, clinical challenges, and potential therapeutic interventions in this complex field. Full article

Objective: This study aimed to explore the emotional, social, and ethical dimensions of early or presymptomatic diagnosis in individuals with Autosomal Dominant Polycystic Kidney Disease (ADPKD). Methods: A total of 118 participants diagnosed with ADPKD were recruited from a tertiary nephrology center in Türkiye. Data were collected via a 22-item structured and open-ended questionnaire. Chi-square and non-parametric statistical tests were used to assess associations between awareness, attitudes, and demographic variables. Results: Although only 10% of participants reported direct disadvantages from their diagnosis, such as difficulties in employment, insurance, or relationships, many voiced concerns about stigma and long-term uncertainties. Genetic awareness was significantly associated with increased likelihood of recommending family screening (p = 0.022), and higher educational attainment correlated with greater disease knowledge (p < 0.01). Despite emotional burden, 71.2% of participants reported adopting lifestyle modifications, and 79.6% expressed willingness to screen their children, though often with ethical hesitation. Conclusions: While early diagnosis of ADPKD may offer clinical benefits, it also introduces complex psychosocial and ethical dilemmas. These findings highlight the importance of integrating patient-centered counseling, clear communication strategies, and supportive policies to ensure informed decision making and mitigate potential harms. Full article

Background: Systemic sclerosis (SSc) is a rare connective tissue disease characterized by vasculopathy, autoimmunity, and fibrosis. Due to its low prevalence and heterogeneous clinical presentation, early diagnosis remains challenging, often delaying appropriate treatment. The disease progresses from microvascular dysfunction, manifesting as Raynaud’s phenomenon, to systemic fibrosis affecting multiple organs, including the lungs, gastrointestinal tract, heart, and kidneys. There have been considerable advancements in understanding the pathophysiology of the disease during the last few years and this has already resulted in the improvement of the therapeutic approaches used to control organ-specific manifestations. However, the underlying cause of the disease still remains incompletely elucidated. Methods: Here, we summarize the current knowledge on the SSc pathogenesis. Results: The pathophysiology involves an interplay of chronic inflammation, impaired vascular function, and excessive extracellular matrix deposition, leading to progressive organ damage. Endothelial dysfunction in SSc is driven by immune-mediated injury, oxidative stress, and the imbalance of vasoconstrictors and vasodilators, leading to capillary loss and chronic hypoxia. Autoantibodies against endothelial cells or other toxic factors induce apoptosis and impair angiogenesis, further exacerbating vascular damage. Despite increased angiogenic factor levels, capillary repair mechanisms are defective, resulting in progressive ischemic damage. Dysregulated immune responses involving Th2 cytokines, B cells, and macrophages contribute to fibroblast activation and excessive collagen deposition. Transforming growth factor-beta (TGF-β) plays a central role in fibrotic progression, while fibroblasts resist apoptosis, perpetuating tissue scarring. The extracellular matrix in SSc is abnormally stiff, reinforcing fibroblast activation and creating a self-perpetuating fibrotic cycle. Conclusions: Advances in molecular and cellular understanding have facilitated targeted therapies, yet effective disease-modifying treatments remain limited. Future research should focus on precision medicine approaches, integrating biomarkers and novel therapeutics to improve patient outcomes. Full article

Ochratoxin A (OTA), a toxic compound generated by Aspergillus and Penicillium fungi, is a common contaminant in different food and animal feed sources, thereby posing possible dangers to human well-being. Although OTA is widely recognized for its kidney-damaging properties, new findings have also indicated its potential to harm the nervous system. Current research trends have increasingly examined the part played by environmental poisons, such as mycotoxins, in the development of diseases. This systematic review gathers and assesses the features of OTA along with the insights acquired from studies on its neurotoxicity. This work presents recent research that demonstrates some mechanisms by which OTA crosses the intestinal and blood–brain barriers, penetrating neural structures. In addition, it discusses the effect of OTA on several types of neural cells and its roles in apoptosis, neuroinflammation, and neurogenesis defects, while also determining the effects of antioxidant systems that neutralize the effects of OTA. This paper identifies crucial gaps in the research and highlights the necessity for further in-depth studies into how OTA affects the processes underlying neurodegeneration. Filling these knowledge gaps could provide valuable insights into the neurotoxic potential of OTA and its relevance to neurological disorders. Full article

Introduction and Objectives: Radiofrequency is standardized for ablating small renal tumors, but evidence regarding its effects remains limited. Partial nephrectomy, the gold standard, often leads to hemorrhagic complications and irreversible renal damage due to hilum clamping. To mitigate these risks, we propose a novel technique that replaces clamping with radiofrequency ablation of the tumor for hemostasis in robot-assisted partial nephrectomy. Methods: We report on 357 consecutive patients with T1a renal tumors treated with robot-assisted surgery between 2010 and July 2024. Radiofrequency was used peri-tumorally for hemostasis, followed by complete lesion enucleation. Follow-up included ultrasound and creatinine at 1 month, CT scans at months 3 and 9, and then annually for 5 years. Results: The median age was 60.2 years, with 251 men (70.3%). The median tumor size was 22 mm, and the median blood loss was 15 mL. Hemorrhagic complications occurred in eight patients (2.2%), with one requiring a blood transfusion (0.28%). A total of 30 patients experienced transient stage 1 acute kidney disease (8.4%), with no significant change in median 74.92 mL/min/1.77 m² vs. 78.77 mL/min/1.77 m² vs. (p-value 0.15). The median follow-up was 48.2 months, with no tumor recurrence at the treated site. Renal cell carcinoma was found in 83.7% of tumors. Conclusions: To our knowledge, this series represent the largest global undertaking of renal tumor treatment using peripheral radiofrequency ablation without clamping, demonstrating optimal surgical and oncological outcomes, lower morbidity, and fewer complications compared to those noted in the revised literature regarding traditional clamping techniques. Full article

Moderate-to-severe chronic kidney disease (CKD) is a public health problem affecting hundreds of millions of people around the world. Started early, nephroprotection measures are able to prevent the degradation of renal function and are a major issue in CKD management. This approach consists of a combination of pharmacological and non-pharmacological treatments aimed at slowing down the decline in renal filtration capacity and improving patient well-being. Drugs such as angiotensin-converting enzyme inhibitors, angiotensin II receptor antagonists, and sodium–glucose cotransport type 2 inhibitors play a crucial role in reducing intraglomerular pressure and renal inflammation. Their beneficial effects are potentiated when they are combined with non-pharmacological approaches, such as salt and protein restriction. This present review provides a critical overview of the current pharmacological and nutritional therapies that may slow down the progression of CKD. Recently, many pharmacological treatments have opened up new perspectives for managing this condition. Nevertheless, prevention remains the cornerstone of effective disease management. Actually, very few studies include both pharmacists and dietitians in their interdisciplinary team mainly represented by nephrologists, nurses, and social workers. However, their specific collaboration may significantly improve the knowledge and skills to help patients in their own CKD management. Future research is required to assess the benefit of collaboration in supporting patients with moderate-to-severe CKD before any concern of renal replacement therapy (RRT). Full article