Browsing by Author "Jorge, Cristina"
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- Individualizing Treatment for CMV with UL97 del597-599 Mutation: Beyond Unusual Response to a Lower Ganciclovir Dose IncreasePublication . Piedade, Ana; Vidal, Helena; Simões, Pilar; Bigotte Vieira, Miguel; Chasqueira, Maria Jesus; Caeiro, Fernando; Aires, Inês; Paixão, Paulo; Jorge, CristinaHuman cytomegalovirus (CMV) infection is the most prevalent infection affecting organ transplant recipients, and it is a cause of morbidity and mortality in patients undergoing kidney transplantation. The introduction of ganciclovir (GCV) for both prophylaxis and treatment has vastly improved patient outcomes. GCV resistance can be caused by mutations in the UL97 phosphotransferase gene or the UL54 polymerase gene. It occurs in 1 to 2% of kidney transplant recipients with CMV infection or disease. Antiviral resistance should be considered when increased viral loads and disease progression are observed despite the administration of adequate antiviral therapy. The degree of resistance varies depending on the type of mutation present. We report a patient with resistance to GCV due to a UL97 del597-599 mutation who, despite typically requiring an 8-fold increase in GCV dose, showed a significant decrease in viral load with just a double dose increase. However, the patient’s overall clinical course remained complicated. Due to severe leukopenia, maribavir had to be started, with a good response. Nevertheless, he ultimately died due to indirect CMV-related complications. This case also highlights the complexity of transplant patients, who present multiple challenges ranging from infections to therapy management.
- An Unusual Case of Overlapping Immunoglobulin G4-Related Disease and Systemic Lupus Erythematosus.Publication . Burillo Simões, Pilar; Martins, João; Menezes, Maria do Mar; Sousa, João; Jorge, CristinaImmunoglobulin G4-related disease (IgG4-RD) and systemic lupus erythematosus (SLE) are multisystemic autoimmune disorders that can present with renal manifestations. Overlapping cases of these diseases are extremely rare and present both diagnostic and therapeutic challenges. We report the case of a 70-year-old male with a history of autoimmune pancreatitis, who was admitted with fatigue, weight loss, and worsening kidney function. Laboratory tests revealed anemia with a positive Coombs test, leucopenia, elevated IgG4, hypocomplementemia, and positive results for ANA, anti-double-stranded DNA (dsDNA), anti-nucleosome, anti-RP11 antibodies, and rheumatoid factor. A spot urine sample showed subnephrotic proteinuria without hematuria. The patient met the criteria for both SLE and possible IgG4-RD, but the cause of the worsening renal function remained unclear, prompting a kidney biopsy. The biopsy revealed a lymphoplasmacytic infiltrate, storiform fibrosis, and IgG4-positive staining, consistent with IgG4-related tubulointerstitial nephritis, but without evidence of lupus nephritis. The patient was treated with prednisolone, resulting in improvement of both his symptoms and kidney function. However, significant leukopenia, anemia, and elevated anti-dsDNA titers persisted, which were presumed to be secondary to the overlapping SLE. Hydroxychloroquine and azathioprine were added to the treatment regimen, leading to improvement in cytopenias at the three-month follow-up. This case underscores the importance of kidney biopsy in suspected overlapping autoimmune diseases for identifying kidney involvement and guiding treatment, although evidence regarding optimal therapy remains limited.