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1.
Eur J Case Rep Intern Med ; 10(12): 004157, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-38077699

RESUMO

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.

2.
Eur J Case Rep Intern Med ; 10(10): 003924, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37789973

RESUMO

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.

3.
ESC Heart Fail ; 6(6): 1331-1333, 2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-31668014

RESUMO

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.


Assuntos
Aminobutiratos/uso terapêutico , Antagonistas de Receptores de Angiotensina/uso terapêutico , Insuficiência Cardíaca , Falência Renal Crônica , Tetrazóis/uso terapêutico , Idoso , Compostos de Bifenilo , Combinação de Medicamentos , Insuficiência Cardíaca/complicações , Insuficiência Cardíaca/tratamento farmacológico , Humanos , Falência Renal Crônica/complicações , Falência Renal Crônica/terapia , Masculino , Diálise Renal , Valsartana
4.
Ageing Res Rev ; 14: 1-18, 2014 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-24503003

RESUMO

As aging is a complex phenomenon characterized by intraindividual and interindividual diversities in the maintenance of the homeostatic condition of cells and tissues, changes in renal function are not uniform and depend on associated diseases and environmental factors. Multiple studies have investigated the possible underlying mechanisms of age-related decline in kidney function. Evolutionary, molecular, cellular and systemic theories have been postulated to explain the primary disease independent age-related changes and adaptive responses. As peroxisome proliferator-activated receptors (PPARs) are involved in a broad spectrum of biological processes, PPAR activation might have an effect on the prevention of cell senescence. In this review, we will focus on the experimental and clinical evidence of PPAR agonists in a battle against the aging kidney.


Assuntos
Envelhecimento/metabolismo , Nefropatias/metabolismo , Rim/metabolismo , Receptores Ativados por Proliferador de Peroxissomo/metabolismo , Animais , Humanos , Metabolismo dos Lipídeos , Receptores Ativados por Proliferador de Peroxissomo/agonistas , Transdução de Sinais
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