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Fabry disease
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
Chronic hemodialysis has been the mainstay of management of renal failure. Many patients have received kidney transplants following renal failure [65–68]. This solves the problem of renal failure, but does not alter the accumulation of lipid in other tissues. Some transplanted patients have survived long enough to die of cardiac disease. Enzyme replacement therapy with purified α-galactosidase [69] has been extended to trials with recombinant human enzyme, which have demonstrated safety and efficacy [70–75]. It is clear that treatment reverses the storage in lysosomes, the causes of clinical disease. A ten-year study of 52 patients in the Fabry registry treated with agalsidase yielded 81 percent who did not experience a severe event during treatment and 94 percent who were alive [65]. The younger the age of initiation of treatment, the better was the result. Early treatment was also emphasized [66] in a report of long-term therapy, which also warranted that premature death still occur in treated patients.
Answers
Published in Andrew Schofield, Paul Schofield, The Complete SAQ Study Guide, 2019
Andrew Schofield, Paul Schofield
Acute kidney injury (AKI)/acute renal failure is a deterioration in renal function over hours to days. Acute-on-chronic renal failure is a deterioration in the renal function of a patient who has an element of chronic kidney disease. The causes of acute kidney injury are classified as prerenal, renal and post-renal. Pre-renal causes result in hypoperfusion of the kidney, e.g. hypovolaemia, cardiac failure and sepsis. Renal causes may be due to acute tubular necrosis (often secondary to many of the pre-renal causes), vascular disease (e.g. vasculitis), glomerular disease (e.g. glomerulonephritis) and drugs. Post-renal causes are any cause of urinary tract obstruction, such as BPH, prostate cancer, renal calculi and tumours of the urinary tract. A renal ultrasound can rapidly and reliably rule out an obstruction. Management is by treatment of the underlying cause.
The renal system
Published in Laurie K. McCorry, Martin M. Zdanowicz, Cynthia Y. Gonnella, Essentials of Human Physiology and Pathophysiology for Pharmacy and Allied Health, 2019
Laurie K. McCorry, Martin M. Zdanowicz, Cynthia Y. Gonnella
Chronic renal failure is the end result of progressive kidney damage and loss of function. Chronic renal failure is often classified into four progressive stages based on the loss of GFR that has occurred (see Table 10.2). Some of the possible causes of chronic renal failure include: Chronic glomerulonephritisChronic infectionsRenal obstructionExposure to toxic chemical, toxins, or drugs (see drug box)DiabetesHypertensionNephrosclerosis (atherosclerosis of the renal artery)
Comorbid conditions as predictors of mortality in severe COPD – an eight-year follow-up cohort study
Published in European Clinical Respiratory Journal, 2023
Gabriella Eliasson, Christer Janson, Gunnar Johansson, Kjell Larsson, Anders Lindén, Claes-Göran Löfdahl, Thomas Sandström, Josefin Sundh
At baseline, information was collected by the responsible physician from history and medical record review on sex, age, smoking history, body weight and height, current pharmacological treatment, number of exacerbations the recent year, the phenotype of chronic bronchitis and comorbid conditions in terms of cardiovascular disease, diabetes, impaired kidney function, malnutrition, musculoskeletal symptoms, osteoporosis or depression. An exacerbation was defined as worsening of symptoms of dyspnea and sputum beyond normal day-to-day variation, requiring increased maintenance treatment, courses of antibiotics or oral steroids or an emergency visit or hospitalization [22]. The phenotype of chronic bronchitis was defined as productive cough of more than three months occurring within the span of two years [2]. All the comorbid conditions were defined as recorded doctor´s diagnoses with ongoing in need of pharmacological or non-pharmacological treatment. Cardiovascular disease included any of the diagnoses of ischemic heart disease, heart failure, atrial fibrillation or flutter or cerebrovascular disease. Impaired kidney function denoted chronical renal impairment and not transient renal failure with normalized kidney function. Musculoskeletal problems included any condition with symptoms of muscle weakness, pain or joint diseases including rheumatic diseases, osteoarthritis as well as arthrosis.
Cost-effectiveness of the adjuvanted quadrivalent influenza vaccine in the elderly Belgian population
Published in Expert Review of Vaccines, 2023
Sophie Marbaix, Nicolas Dauby, Joaquin Mould-Quevedo
Respiratory diagnoses other than influenza are the most frequent complications and include bronchitis, pneumonia or any URTI, and acute exacerbation of COPD. Myocarditis, MI, renal or CNS complications, and stroke are the nonrespiratory complications associated with influenza infection. Renal complications refer to acute renal failure, glomerulonephritis, and nephrotic syndrome. CNS complications include meningitis, psychosis, epilepsy and Guillain-Barré syndrome. The probabilities of developing these complications were mainly derived from an observational study conducted in the United Kingdom [4] and adapted for a previous cost-effectiveness analysis [20]. The nature of the complications and the risk of hospitalization due to complications were validated by Belgian experts. All nonrespiratory complications were assumed to require hospitalization. Bronchitis and URTIs were mainly managed in outpatient settings. The risk of hospitalization due to pneumonia was derived from a previous Belgian cost-effectiveness analysis [38]. A similar risk of hospitalization was assumed in the case of COPD exacerbations based on the number of hospitalizations due to influenza in combination with pneumonia and COPD diagnoses [3].
Progress in the study of nutritional status and selenium in dialysis patients
Published in Annals of Medicine, 2023
Meiran Cao, Shuai Zheng, Wenhua Zhang, Guicai Hu
The prevention and treatment of chronic kidney disease (CKD) has become an important public health concern globally, with about 10% adults worldwide having CKD and about 1.2 million people dying from CKD each year. CKD is expected to be the fifth leading cause of death worldwide by 2040 [1]. With the progress of CKD, the renal and glomerular filtration function of patients is gradually reduced, and toxins in the body are continuously accumulated. Renal failure and multiple system damage such as nerve, muscle, and respiratory and metabolic disorders occur towards the end stage of the disease. Renal replacement therapy should be done on time. It has been shown that 77.5% patients with end-stage renal disease (ESRD) have received renal replacement therapy (RRT), of which 43.1% were treated with dialysis [2].