Browsing by Author "Fidalgo, T"
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- Atypical Adult-Onset Methylmalonic Acidemia and Homocystinuria Presenting as Hemolytic Uremic SyndromePublication . Navarro, D; Azevedo, A; Sequeira, S; Ferreira, AC; Carvalho, F; Fidalgo, T; Vilarinho, L; Santos, MC; Calado, J; Nolasco, FThrombotic microangiopathy (TMA) syndromes can be secondary to a multitude of different diseases. Most can be identified with a systematic approach and, when excluded, TMA is generally attributed to a dysregulation in the activity of the complement alternative pathways-atypical hemolytic uremic syndrome (aHUS). We present a challenging case of a 19-year-old woman who presented with thrombotic microangiopathy, which was found to be caused by methylmalonic acidemia and homocystinuria, a rare vitamin B12 metabolism deficiency. To our knowledge, this is the first time that an adult-onset methylmalonic acidemia and homocystinuria presents as TMA preceding CNS involvement.
- A Case of Bortezomib-Associated Thrombotic Microangiopathy in a Multiple Myeloma PatientPublication . Moreira Fonseca, N; Cardoso, F; Monteiro, M; Góis, M; Sousa, H; Fidalgo, T; Calado, J; Nolasco, FBortezomib is a first-generation proteasome inhibitor used in the treatment of multiple myeloma. We present a case of a 70-year-old woman with multiple myeloma, who presented thrombotic microangiopathy with multi-organ involvement thrombotic microangiopathy (ocular, cardiac, and renal) after bortezomib initiation. A kidney biopsy confirmed the diagnosis of thrombotic microangiopathy. A temporal relation between bortezomib exposure and thrombotic microangiopathy onset was seen in the absence of other concurrent medication or disease known to cause thrombotic microangiopathy, and thrombotic microangiopathy was only resolved after drug discontinuation. The exact pathophysiological mechanism remains unknown. To our knowledge, this is the second biopsy-proven published case of bortezomib-associated thrombotic microangiopathy. Since bortezomib is extensively used for treating patients with multiple myeloma, prescribing clinicians should maintain a high index of suspicion of this potentially fatal complication.
- Portuguese Consensus Document Statement in Diagnostic and Management of Atypical Hemolytic Uremic SyndromePublication . Azevedo, A; Faria, B; Teixeira, C; Carvalho, F; Neto, G; Santos, J; Santos, MC; Oliveira, N; Fidalgo, T; Calado, JAmong thrombotic microangiopathies (TMA), the hemolytic uremic syndrome associated with dysregulation of the alternative complement pathway (aHUS) is one of the most challenging diseases a nephrologist can face. By the end of the XXth century, the complement’s role was unraveled with the discovery that mutations in the factor H coding gene were responsible for aHUS. But it was the acknowledgment that pharmacological C5-9 blockage provided a cure for aHUS that fostered the interest of the nephrology community in the genetics, pathophysiology and therapeutics of, not only of aHUS, but TMA in general. The molecular genetics of aHUS is technically demanding and, as such, in Portugal (alike many other European countries) a single laboratory emerged as a national reference center. The fact that all samples are evaluated in a single center provides a unique opportunity for data collection and a forum for discussion for all those interested in the field: immunologists, molecular geneticists, pathologists and nephrologists. The current consensus document emerged from such a discussion forum and was sponsored by the Portuguese Society of Nephrology. The goal is more to portray the Portuguese picture regarding the diagnostic approach and therapeutic options than to extensively review the state of the art of the subject. The accompanying documents that are published as supplementary data are in line with that goal. They range from the informed consent and clinical form to be sent together with the biological samples for genetic testing, to the appendix regarding the actual sampling and storing conditions. The document is also intended to set an example for future documents and independent discussion forums on other kidney diseases for which emerging diagnostic and/or therapeutic strategies are reaching clinical practice.