Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0002871 (anemia)
 52,094 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Natriuretic peptides play a central role in cardiovascular, endocrine, and renal homeostasis and can be considered physiologic antagonists to the renin-angiotensin-aldosterone system. ANP and BNP in the circulation are derived primarily from the myocardium, whereas CNP is mainly derived from endothelial cells and the central nervous system. Increased ventricular and atrial diastolic wall stretch augment synthesis and release of BNP and NT-proBNP from cardiomyocytes, and is the principal stimulus controlling BNP production. Circulating BNP and NT-proBNP levels are increased in heart failure in proportion to disease severity, but elevated levels may also be observed in other cardiac and noncardiac disease states, including cardiac arrhythmias, ventricular hypertrophy, myocardial ischemia, pulmonary embolism, acute and chronic cor pulmonale, renal failure, anemia, hyperthyroidism, and sepsis. Fully automated analyses of both BNP and NT-proBNP can be rapidly performed on large hospital-based platforms as well as on small point-of-care devices.
 ...
PMID:Natriuretic peptides: physiologic and analytic considerations. 1963 Nov 73

Through linkage analysis and candidate gene sequencing, we identified three unrelated families with the autosomal-dominant inheritance of early onset anemia, hypouricosuric hyperuricemia, progressive kidney failure, and mutations resulting either in the deletion (p.Leu16del) or the amino acid exchange (p.Leu16Arg) of a single leucine residue in the signal sequence of renin. Both mutations decrease signal sequence hydrophobicity and are predicted by bioinformatic analyses to damage targeting and cotranslational translocation of preprorenin into the endoplasmic reticulum (ER). Transfection and in vitro studies confirmed that both mutations affect ER translocation and processing of nascent preprorenin, resulting either in reduced (p.Leu16del) or abolished (p.Leu16Arg) prorenin and renin biosynthesis and secretion. Expression of renin and other components of the renin-angiotensin system was decreased accordingly in kidney biopsy specimens from affected individuals. Cells stably expressing the p.Leu16del protein showed activated ER stress, unfolded protein response, and reduced growth rate. It is likely that expression of the mutant proteins has a dominant toxic effect gradually reducing the viability of renin-expressing cells. This alters the intrarenal renin-angiotensin system and the juxtaglomerular apparatus functionality and leads to nephron dropout and progressive kidney failure. Our findings provide insight into the functionality of renin-angiotensin system and stress the importance of renin analysis in families and individuals with early onset hyperuricemia, anemia, and progressive kidney failure.
 ...
PMID:Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure. 1966 45

Despite substantial progress in dialysis patients' management, cardiovascular disease remains the major cause of death. Nearly half of deaths on dialysis are secondary to myocardial infarction, cardiac arrest, malignant arrhythmias and other cardiac causes. The high prevalence of diabetes, anemia, hyperparathyroidism and hypertension among chronic dialysis patients fosters structural heart diseases. Moreover, fluid overload and metabolic abnormalities such as metabolic acidosis, dyskalemia and dysmagnesemia lead to an increased risk of clinically significant arrhythmias and sudden cardiac death. End-stage renal disease (ESRD) is often characterized by the presence of sympathetic hyperactivity and activation of the renin-angiotensin-aldosterone system (RAAS). Control of sympathetic outflow, blockade of the RAAS and prevention of electrolyte disorders should be the mainstay of cardiovascular prevention in ESRD patients. This review summarizes the current available literature regarding the epidemiology of arrhythmias in dialysis patients, the underlying mechanism of atrial fibrillation or sudden death and potential interventions to reduce the risk of arrhythmias in dialysis patients, including medical therapy or defibrillators.
 ...
PMID:Arrhythmias in hemodialysis patients. 1996 50

Chronic kidney disease (CKD) is a strong risk factor for cardiovascular events and death. Hypertension, dyslipidemia, anemia, vascular calcification, and secondary hyperparathyroidism have all been implicated in the pathogenesis of cardiovascular disease associated with CKD. Numerous trials have been performed assessing the effects of modifying these risk factors on cardiovascular events and on the progression to end-stage renal disease. Many guidelines have been issued. In this article we review the guidelines and the strength of evidence supporting them. Specifically, we discuss blood pressure goals for patients with CKD, the role of renin-angiotensin system blocking agents for blood pressure control and proteinuria reduction, and the evidence for treatment recommendations of dyslipidemia. We review the trials addressing risks and benefits of different hemoglobin targets for treatment of anemia with erythropoietin. The use of phosphate-binding drugs to prevent and treat secondary hyperparathyroidism is likely beneficial, but few data support the use of vitamin D compounds. Supplementation with sodium bicarbonate may be an inexpensive treatment to retard progression to end-stage renal disease. The article concludes with a discussion of the case vignette presented in the previous article.
 ...
PMID:Management of chronic kidney disease: what is the evidence? 2013 75

Because of the increasing incidence of cardiac failure and chronic renal failure due to the progressive aging of the population, the extensive application of cardiac interventional techniques, the rising rates of obesity and diabetes mellitus, coexistence of heart failure and renal failure in the same patient are frequent. More than half of subjects with heart failure had renal impairment, and mortality worsened incrementally across the range of renal dysfunctions. In patients with heart failure, renal dysfunction can result from intrinsic renal disease, hemodynamic abnormalities, or their combination. Severe pump failure leads to low cardiac output and hypotension, and neurohormonal activation produces both fluid retention and vasoconstriction. However, the cardiorenal connection is more elaborate than the hemodynamic model alone; effects of the renin-angiotensin system, the balance between nitric oxide and reactive oxygen species, inflammation, anemia and the sympathetic nervous system should be taken into account. The management of cardiorenal patients requires a tailored therapy that prioritizes the preservation of the equilibrium of each individual patient. Intravascular volume, blood pressure, renal hemodynamic, anemia and intrinsic renal disease management are crucial for improving patients' survival. Complications should be foreseen and prevented, looking carefully at basic physical examination, weight and blood pressure monitoring, and blood, urine urea and electrolytes measurement.
 ...
PMID:Cardiorenal syndrome: still not a defined entity. 2017 50

The cardiorenal syndrome is a relative frequent complication in patients with advanced heart failure (HF) and left ventricular dysfunction. Its presence is associated with a worse prognosis. The pathophysiology of cardiorenal syndrome may vary according to the specific clinical circumstances and conditions of the patients. Thus, the different factors that take part in this syndrome vary among subjects and in the same patient along the time. These mechanisms are multifactorial and many of them are not well defined. These include hemodynamic factors, systemic neurohormonal factors, drug treatment resistances and anemia. The first step in the treatment of cardiorenal syndrome is the optimization of HF therapy that includes diuretics, renin angiotensin system antagonists and beta blockers. However, despite these treatments, the prognosis of this syndrome remains very poor. There has been a growing interest for cardiorenal syndrome in the last years, its pathophysiology and the multiple interactions between heart and kidney. This has made that new therapies for the treatment of this syndrome have been tested, with encouraging results. In this manuscript, the definition, pathophysiology, clinical management and new therapies are reviewed.
 ...
PMID:Renal dysfunction and heart failure. 2022 27

Renal transplantation is a method of choice for treatment of patients with end-stage renal disease. Anemia may complicate post-transplantation course. It is a significant correctable risk factor for development of cardio-vascluar diseases. Based on the time of occurrence, early and late post-transplantation anemia (PTA) may be differentiated. Early PTA occurs immediately after renal transplantation. Risk factors for development of early PTA include blood loss during and after the surgery, inflammation, delayed graft function, and induction therapy with bone marrow suppression. Abrupt cessation of erythropoetin treatment may contribute to development of early PTA. The most common reason for development of late PTA is poor graft function with lack of erythropoetin or erythropoetin resistance. Etiology of PTA is commonly multifactorial and includes graft function, immunosuppressive drugs, infections and renin-angiotensin system. Treatment of anemia in renal transplant recipients demands an individual approach, with searching for the etiology of anemia. According to the current knowledge, renal transplant recipients with anemia should be treated in the same way as other patients with chronic renal failure.
 ...
PMID:[Post-transplantation anemia--diagnostic and therapeutic challanges]. 2023 49

The renin-angiotensin system is the major regulator of blood pressure by virtue of controlling vascular resistance and plasma volume. Much less recognition exists for the role of the renin-angiotensin system in regulating erythropoiesis, a biological function critical for oxygen delivery to tissues. In this review, we present evidence that angiotensin II (Ang II) is a physiologically important regulator of erythropoiesis with 2 key actions. First, Ang II is a growth factor of erythroid progenitors and, in cooperation with erythropoietin, increases red blood cell mass. Second, Ang II acts as an erythropoietin secretagogue to maintain increased erythropoietin levels despite increments in hematocrit. Among a multitude of physiologic and pathophysiologic implications, these lines of evidence provide an explanation for the effect of angiotensin-converting enzyme inhibitors and Ang II type 1 receptor blockers to decrease hematocrit or cause anemia in various clinical conditions.
 ...
PMID:The role of the renin-angiotensin system in the regulation of erythropoiesis. 2040 Feb 18

Autosomal-dominant interstitial kidney disease is characterized by slow progression of chronic kidney disease in patients with bland urinary sediment and no or low-grade proteinuria. There are at least three subtypes. Patients with mutations in the UMOD gene encoding uromodulin suffer from precocious gout in addition to chronic kidney failure. Diagnosis can be achieved through genetic analysis of the UMOD gene. Patients with mutations in the REN gene encoding renin suffer from anemia in childhood, hyperuricemia, mild hyperkalemia, and progressive kidney disease. Genetic analysis of the REN gene can be performed to diagnose affected individuals. There is a third form of inherited interstitial kidney disease for which the cause has not been found. These individuals suffer from chronic kidney disease with no other identified clinical signs. Linkage to chromosome 1 has been identified in a number of these families. Proper diagnosis is valuable not only to the affected individual but also to the entire family and can facilitate treatment, transplantation, and research efforts.
 ...
PMID:Hereditary interstitial kidney disease. 2080 9

Uromodulin (Tamm-Horsfall glycoprotein) is the most common protein excreted in the urine of healthy individuals, yet its function remains unclear. Mutations in the UMOD gene encoding uromodulin result in a marked decrease in the synthesis of uromodulin, as well as the accumulation of abnormal uromodulin in tubular cells, leading to tubular cell death. UMOD gene mutations are responsible for the autosomal dominant inheritance of chronic interstitial disease, leading to the need for renal replacement in the third through seventh decades of life. Individuals with UMOD mutations also suffer from hyperuricemia in childhood, and often suffer from gout in their teenage years. A similar clinical syndrome causing the autosomal dominant inheritance of chronic kidney disease, hyperuricemia, and anemia has recently been attributed to mutations in the REN gene encoding renin. Recently, polymorphisms in the UMOD gene have been found responsible for increased urinary uromodulin production and an increased risk of chronic kidney disease. This review summarizes information on uromodulin biology and clinical manifestations of mutations in the UMOD gene, as well as similar inherited interstitial diseases. It provides new information regarding UMOD gene polymorphisms and their association with chronic kidney disease.
 ...
PMID:Uromodulin-associated kidney disease. 2107 70


<< Previous 1 2 3 4 5 6 7 8 9 10 Next >>