Browsing by Author "Cabrita, Ana"
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- Gaucher disease and Lupus: a rare association?Publication . Jerónimo, Teresa; Cabrita, Ana; Pimentel, Ana; Vidinha, Joana; Fragoso, Andre; Santos, Viriato; Bernardo, Idalecio; Viana, Helena; Carvalho, Fernanda; Brito, Helena; Lazaro, Mario; Neves, Pedro LeaoGaucher disease (GD), is an autosomal recessive lysosomal storage disease that is due to mutations in the glucocerebrosidase (GC) gene, with a prevalence of 1/57,000 to 1/75,000 births worldwide and significantly more common among the Ashkenazi Jewish heritage. GD is categorized into three clinical types4 and the clinical manifestations result from the accumulation of the lipid-laden macrophages in the spleen, liver, bone, bone marrow, leading to impairment of central nervous system in the most severe cases.
- p.G360R is a pathogenic GLA gene mutation responsible for a classic phenotype of Fabry diseasePublication . Carvalho Silva, Daniela; Marques, Nuno; Azevedo, Olga; Miltenberger-Miltenyi, Gabriel; Bento, Dina; Guedes, Joao; Azevedo, Pedro; Bispo, Joao; Mota, Teresa; Fernandes, Raquel; Nzwalo, Hipólito; Cabrita, Ana; Ramos, André; de Jesus, IlidioThe authors report the case of a classic phenotype of Fabry disease in a 60-year-old male patient presenting with left ventricular hypertrophy and stroke. Genetic analysis revealed 2 GLA-gene variants, i.e., p.R356Q and p.G360R. This clinical case highlights that the finding of 2 or more GLA gene variants in a Fabry patient should lead to a careful evaluation in order to determine their exact role in the condition. This case also provides the first clinical evidence that the p.G360R mutation is pathogenic and responsible for a classic phenotype of Fabry disease. The clinical improvement following the initiation of enzyme replacement therapy reinforces the importance of Fabry disease awareness and diagnosis in patients exhibiting red flags, such as left ventricular hypertrophy and stroke.
- Será doença de Fabry? Abordagem diagnóstica e de seguimentoPublication . Beirao, Idalina; Cabrita, Ana; Torres, Marcia; Silva, Fernando; Aguiar, Patricio; Gomes, Ana MartaA doença de Anderson-Fabry (DAF) é uma doença sistémica de sobrecarga lisossomal causada por mutações patogénicas do gene GLA (cromossoma X) que condicionam diminuição ou ausência α-galactosidase A e acumulação de globotriaosilceramida (Gb3) e outros glicoesfingolípidos nos lisossomas, particularmente das células endoteliais, neuronais, cardíacas e renais que levam à fibrose e lesão irreversível de órgão.
- The usefulness of calcium/magnesium ratio in the risk stratification of early onset of renal replacement therapyPublication . Afonso, Rita; Marques, Roberto; Borges, Henrique; Cabrita, Ana; Silva, Ana PaulaA growing number of studies have reported a close relationship between high serum calcium (Ca)/low serum magnesium (Mg) and vascular calcification. Endothelial dysfunction and vascular inflammation seem plausible risk factors for the enhanced progression of kidney disease. The aim of this study was to evaluate the role of the Ca/Mg ratio as a predictor of the early onset of renal replacement therapy (RRT). Methods: This was a prospective study conducted in an outpatient low-clearance nephrology clinic, enrolling 693 patients with stages 4–5 of CKD. Patients were divided into two groups according to the start of renal replacement therapy (RRT). Results: The kidney’s survival at 120 months was 60% for a Ca–Mg ratio < 6 and 40% for a Ca–Mg ratio ≥ 6 (p = 0.000). Patients who started RRT had lower levels of Hb, Ca, Mg, albumin, and cholesterol and higher values of phosphorus, the Ca/Mg ratio, and PTH. High values of phosphorus and the Ca/Mg ratio and low levels of Mg and GFR were independent predictors of entry into RRT. A high Ca/Mg ratio, high phosphorus levels, and low levels of GFR were associated with a cumulative risk for initiation of RRT. Conclusions: In our population, the Ca/Mg ratio is an independent predictive factor for the initiation of a depurative technique.
- Tip lesion variant of focal and segmental glomerulosclerosis in a COVID-19 patientPublication . Afonso, Rita Serra; Calças Marques, Roberto; Borges, Henrique; Carias, Eduarda; Domingos, Ana Teresa; Cabrita, Ana; Sampaio, Sandra; Silva, Ana PaulaAcute kidney injury is a common complication of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection. Several pathologic findings are continually being reported, showing a probably multifactorial etiology. The authors present a case of a patient diagnosed with a tip lesion variant of focal segmental glomerulosclerosis (FSGS) in the setting of COVID-19. A 43-year-old African American female with no known renal disease presented to the emergency department with a 6-day history of fatigue, headache, hypoageusia, myalgia, cough, nausea, and vomiting. Laboratory tests confirmed SARS-CoV-2 infection. During hospitalization, there was a progressive decline in kidney function and evidence of nephrotic-range proteinuria without nephrotic syndrome. Biopsy specimen showed a tip lesion variant of FSGS. Genetic test revealed a homozygous variant of uncertain clinical significance (c.397G>A [p.V133M]) in the epithelial membrane protein 2 (EMP2) gene. To our knowledge, this is the first case report of a tip lesion in a COVID-19 patient with no renal history. More studies are warranted to define susceptible groups and identify the detailed mechanisms of COVID-19-related kidney disease that would allow for specific management of this complication.