Michaelsenploug7423

Of these patients, 32.8% reported a positive family history of kidney disease. This study confirms that a significant proportion of patients on renal replacement therapy do not have an etiological diagnosis and may be subject to a genomic evaluation. With the increasing availability of genomic sequencing technology and the falling of related costs, nephrologists will be increasingly inclined to incorporate clinical genetic testing into their diagnostic armamentarium. There is therefore a need for in-depth, multicenter studies aimed at developing evidence-based guidelines, clear indications and at confirming the usefulness of genetic testing in nephrology.Background and objectives Chronic dialysis in frail nephropathic patients can worsen the symptom load and their functional autonomy, increasing the risk of early mortality. It is key to evaluate if dialysis treatment represents a real advantage for these patients; Maximum Conservative Therapy (MCT) associated with palliative care, could improve their residual quality of life, avoiding dialysis. The aim of this work is to describe the application and the relative terms of MCT in a complete series of cases followed in our Nephrological Clinic. Study design and setting This is a retrospective observational study on a cohort of 48 frail nephropathic patients in MCT and 58 on dialysis, in the period between January 2013 and December 2019. https://www.selleckchem.com/products/ABT-869.html The place of death, Incidence Rate (IR) and Incidence Rate Ratio (IRR) related to survival and hospitalization rates were studied. Results The average duration of MCT was 9.7 months vs 13.5 months of dialysis treatment. One-year probability of survival of dialysis patient was 0.52 [CI 0.38-0.64] vs 0.48 [CI 0.33-0.62] in MCT patients; however, dialysis patients had higher rates of hospitalization (IR 2.780 vs 1.269 in MCT patients), IRR 2.19 [CI 1.66-2.89], according to literature [13]. 67% of dialysis patients died in hospital versus 35% of MCT patients. 34% of MCT patients are still alive at the time of data analysis (January 31, 2020); no dialysis patients are still alive on the same date. Conclusions The use of dialysis has shown a marginal, even though significant, effect on the average survival of frail nephropathic patients; however, they present a higher hospitalization rate, with consequent impact on the quality of life. The choice of the treatment (MCT vs dialysis) should not be merely based on the presence of comorbidities, but rather on the type of comorbidity found, which represents each time an element in favor of MCT or dialysis.Gitelman's syndrome (GS) is a rare autosomal recessive disorder characterized by hypokalemia, hypomagnesaemia, metabolic alkalosis, hypocalciuria and secondary hyperaldosteronism. The impact of GS on pregnant patients is still not clear, despite the many clinical cases described in literature. In particular, there is no data on the development of gestational diabetes. Altered glucose metabolism and insulin sensitivity have recently been described in patients with GS. We describe here the clinical case of a young woman suffering from GS who started pregnancy and developed gestational diabetes. Our experience, while confirming the need of assiduous ionic monitoring especially in the first trimester of pregnancy, seems to help scaling down the maternal-fetal risk in patients suffering from GS. We also suggest the introduction of a low-glucose diet to prevent the onset of gestational diabetes, a condition burdened with severe complications. Finally, a reminder that drugs active on ionic balance must be of proven maternal and fetal safety.Atypical hemolytic uremic syndrome (aHUS) is a rare and heterogenous disease caused by a disregulation of the alternative pathway of the complement cascade. Specifically, microvascular damage is produced that can lead to acute kidney disease, hemolytic anemia and thrombocytopenia. It accounts for 10% of all hemolytic uremic syndromes and can result in death or in end stage renal disease since the first episode. We can differentiate two forms of aHUS a sporadic form (80%), affecting adult people, and a familial form (20%) that usually became manifest during infancy. In the acute phase of the disease, frequent and severe anemia requires multiple blood transfusions, exposing patients to the risk of catching an infective disease. HCV hepatitis is the most prevalent chronic hepatitis worldwide, with approximately 170 million chronically infected individuals - many of which are unaware of their condition. The evolution of the HCV infection is variable almost 20% of patients spontaneously clear the infection over time (Anti HCV positive, HCV RNA negative patients); 80% of patients cannot control the virus and develop chronic infection (Anti HCV positive; HCV RNA positive patients) that can evolve into liver cirrhosis and hepatocellular carcinoma. The aim of this paper is to describe a clinical case of acute HCV hepatitis in a patient with aHUS treated with Eculizumab.Amyloidosis represents a heterogeneous group of pathologies characterized by the deposit, in the form of fibrils, in the various organs and tissues of the body, of abnormal proteins; the deposits made up of these fibrils are called amyloid or amyloid substance. AL amyloidosis, also called "light chains", is a primary form characterized by deposits of light chains of monoclonal immunoglobulins, proteins that are produced by the bone marrow with the aim of protecting the body from pathological processes; for unknown reasons, these immunoglobulins, once fulfilled their function, do not dissolve but, on the contrary, they transform into amyloid fibrils and accumulate progressively, transported by the bloodstream, in the various organs and tissues. Below we report the case of a 77-year-old Caucasian male patient hospitalized at our Operative Unit for nephrotic syndrome and creatinine increase in the last couple of months, compared to previous normal tests. The patient underwent a renal biopsy and a bone marrow smear with evidence of AL amyloidosis (or primary amyloidosis) and of the presence, at serum immunofixation, of small IgG multiple myeloma k. Treated with bortezomib (1 mg/m 2 ) and soldesam (10 mg) first and with lenalidomid after, the patient had a clinical course burdened by symptomatic hypotension, due to severe dysautonomia. He had to start replacement treatment with haemodiafiltration for terminal kidney disease two months after the onset of illness. He died 4 months after the first hospitalization for nephrotic syndrome.