Familial Renal Glucosuria Presenting as Paroxysmal Glucosuria and Hypercalciuria Due to a Novel SLC5A2 Heterozygous Variant.

Familial renal glucosuria (FRG) is a rare genetic disease characterised by isolated glucosuria in the absence of proximal tubular dysfunction. It usually occurs due to a mutation in the SLC5A2 gene encoding the sodium-glucose cotransporter-2 (SGLT2), responsible for most of the renal glucose reabsorption. We report on a case of a patient presenting with paroxysmal glucosuria and hypercalciuria due to a novel SLC5A2 heterozygous variant. LEARNING POINTS: FRG usually presents with glucosuria but may also be associated with hypercalciuria and aminoaciduria.The amount of glucosuria is variable and can be normal in the same FRG patient because it is influenced by different glycaemia levels. This raises the question of whether the definition of FRG should be broadened to paroxysmal glucosuria.Having glucosuria does not prevent the development of insulin resistance.

Acyclovir-Induced Glomerulonephritis in a 40-year-old Woman Without Medical History: A Case Report.

Well-known side effects of acyclovir are nephrotoxicity and neurotoxicity. We present a 49-year-old woman without pre-existing renal failure, with an acute kidney injury and encephalopathy. Since there was a clear correlation with the intake of acyclovir and the course of illness, findings were attributed to the antiviral agent. Urinalysis showed a proteinuria in nephrotic ranges, which is not described in the currently known causes of acyclovir-induced renal failure. We postulate the hypothesis of a nephritis with podocyte damage induced by acyclovir or, more likely, by an acyclovir metabolite. LEARNING POINTS: Presentation of a case of acute kidney injury, with haematuria and proteinuria in nephrotic ranges, after acyclovir administration. These findings suggest glomerular involvement; we postulate a hypothesis of a nephritis with podocyte damage.Observation of associated mild encephalopathy in a patient without pre-existing kidney failure.Toxic mechanism of glomerular damage and combined encephalopathy. This should be further investigated.

Sacubitril/valsartan in heart failure and end-stage renal insufficiency.

The aim of this report is to describe the feasibility and tolerability of medical treatment with sacubitril/valsartan in a patient treated with hemodialysis. We describe the case of a 67-year-old man with heart failure with reduced ejection fraction due to an ischemic cardiomyopathy and renal insufficiency undergoing hemodialysis. Because of worsening heart failure with no other therapeutic options, a treatment with sacubitril/valsartan was started. Although this patient had a very low systolic blood pressure, he could tolerate a moderate dose of 49/51 mg twice daily. After initiation of sacubitril/valsartan, there was a symptomatic improvement with a clear reduction NT-proBNP, accompanied by a decrease in filling pressures. In conclusion, in this patient with severe heart failure undergoing hemodialysis, treatment with sacubitril/valsartan was feasible, safe, and improved heart failure symptoms.

Anticoagulation with fondaparinux for hemodiafiltration in patients with heparin-induced thrombocytopenia: dose-finding study and safety evaluation.

The optimal anticoagulation regimen for hemodialysis (HD) in patients with heparin-induced thrombocytopenia (HIT) has not been defined. Hemodiafiltration (HDF) adds a large convective component to HD, thereby changing the pharmacokinetics of most anticoagulants. Data on coagulation regimens for HDF are scant. We therefore aimed to study the feasibility, effectiveness, tolerability, and pharmacokinetics of fondaparinux anticoagulation in HDF. This was a prospective observational dose-finding study. Patients were started on fondaparinux at a dose of 0.05 mg/kg postdialysis body weight. Per protocol dose escalation was performed when significant clotting was observed and reduced when the anti-Xa activity postdialysis exceeded 0.4 IU/mL. Dose adjustments were made by steps of 0.01 mg/kg postdialysis weight. Anti-Xa activity was measured using a chromogenic method calibrated with low-molecular-weight heparin and validated against fondaparinux-calibrated anti-Xa activity. Four patients with HIT were followed for 160 sessions in total. At the end of the dose titration study, three patients ended at a maintenance dose of 0.03 mg/kg and one patient at 0.04 mg/kg of fondaparinux. Significant bleeding attributable to fondaparinux did not occur. The occurrence of clotting increased parallel to the reduction of fondaparinux dose, from 0/53 and 0/15 sessions at the higher doses (0.04 and 0.05 mg/kg) to 3/75 (4%) at 0.03 mg/kg and 1/17 (6%) at 0.02 mg/kg. Fondaparinux may be safely used and provides adequate anticoagulation for HDF in patients with HIT. We recommend to adjust dosage of fondaparinux to body weight and to initiate therapy at a dose of 0.03 mg/kg to prevent accumulation. Dose titration can be achieved by targeting postdialysis anti-Xa activity.

Clinical review: What is the role for autopsy in the ICU?

The availability of advanced diagnostic tools has grown in the past decades. Hence, a growing false belief exists that everything is known about the patient before death. Moreover, intensivists may wrongly believe that autopsy findings do not contribute to the understanding of pathophysiological events. The immediate result is that few ICUs nowadays assemble enough autopsy cases with new and interesting clinicopathological features. However, we believe that, at least in tertiary ICUs, autopsies remain a valuable examination, as a tool for quality control, as a way of establishing gold standards for diagnostic examinations and as an aid in developing guidelines for treatment and diagnosis of diseases frequently encountered in the ICU. Finally, due to the ever-expanding armamentarium of immunosuppressive agents, a growing list of opportunistic infections is discovered during autopsy. The present article gives an overview of autopsy studies conducted in the ICU and discusses the pros and cons of performing these.