Browsing by Author "Carreira, A"
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- Fabry’s disease, an eye-kidney disease reviewPublication . Guedes-Marques, M; Mira, F; Ferreira, E; Pinto, H; Maia, P; Mendes, T; Carreira, A; Campos, MFabry’s disease is a recessive X -linked disorder that results from a deficiency of the hydrolase alpha- -galactosidase A (α -Gal A). The absence of α -Gal A enzyme activity leads to accumulation of glycosphingolipid globotryaosylceramide (GL -3) in the lysosomes of a variety of cell types. It can cause skin and ocular lesions, progressive renal, cardiac or cerebrovascular disorders. The authors report the case of a 39 -year -old female who was referred to a nephrology appointment by her ophthalmologist, after the diagnosis of cornea verticillata and posterior subcapsular cataract. This case illustrates the importance of a multidisciplinary evaluation to an effective clinical screening. In males, most symptoms begin in childhood; in females the onset can be observed later and presentation is more variable. Various manifestations often lead to misdiagnosis or are frequently delayed for many years. Enzyme replacement therapy highlights the importance of early diagnosis so that treatment can be initiated before irreversible organ damage occurs.
- Transplant glomerulopathy: clinico-pathologic featuresPublication . Silva, C; Cotovio, P; Marques, M; Afonso, N; Sancho, MR; Carvalho, F; Trindade, H; Carreira, A; Campos, M; Nolasco, FTransplant glomerulopathy is a sign of chronic kidney allograft damage. It has a distinct morphology and is associated with poor allograft survival. We aimed to assess the prevalence and clinic-pathologic features of transplant glomerulopathy, as well as determine the functional and histological implications of its severity. We performed a single-centre retrospective observational study during an eight-year period. Kidney allograft biopsies were diagnosed and scored according to the Banff classification, coupled with immunofluorescence studies. The epidemiology, clinical presentation, outcomes (patient and graft survival) and anti-HLA alloantibodies were evaluated. Transplant glomerulopathy was diagnosed in 60 kidney transplant biopsies performed for clinical reasons in 49 patients with ABO compatible renal transplant and a negative T-cell complement dependent cytotoxicity crossmatch at transplantation. The estimated prevalence of transplant glomerulopathy was 7.4% and its cumulative prevalence increased over time. C4d staining in peritubular capillaries (27.6%) was lower than the frequency of anti-HLA antibodies (72.5%), the majority against both classes I and II. Transplant glomerulopathy was associated with both acute (mainly glomerulitis and peritubular capillaritis) and chronic histologic abnormalities. At diagnosis, 30% had mild, 23.3% moderate and 46.7% severe transplant glomerulopathy. The severity of transplant glomerulopathy was associated with the severity of interstitial fibrosis. Other histological features, as well as clinical manifestations and graft survival, were unrelated to transplant glomerulopathy severity.