RESUMEN
Polyomavirus virus associated nephropathy (PVAN) is an important cause of graft failure in the renal transplant population. The prevalence of PVAN has increased from 1% to 10% in the past decade, leading to loss of transplanted organ in 30% to 80% of cases. In the absence of specific antiviral drugs, early detection of disease and modification/reduction of immunosuppressive regimen is currently the cornerstone of therapy. In the setting of multiorgan transplantation, like simultaneous pancreas and kidney transplantation (SPKT), diagnosis and therapy of PVAN can be even more challenging problem. We report a first described case of PVAN in patient after SPKT in Croatia. Patient is a 32 years old Caucasian male with type 1 diabetes mellitus and end stage renal failure, diagnosed for PVAN 6 month after SPKT. Patient was treated with reduced immunosuppressive regimen. At 32 month follow up, patient has preserved kidney and pancreas function with estimated glomerular filtration (eGFR) rate of 91 mL/min and no signs of PVAN on his 2 year protocol kidney biopsy.
Asunto(s)
Enfermedades Renales/virología , Trasplante de Riñón/efectos adversos , Trasplante de Páncreas/efectos adversos , Infecciones por Polyomavirus/patología , Células Epiteliales/patología , Células Epiteliales/virología , Humanos , Inmunohistoquímica , Inmunosupresores/sangre , Inmunosupresores/uso terapéutico , Enfermedades Renales/patología , Masculino , Vacuolas/ultraestructura , Adulto JovenRESUMEN
Patients with 47, XXY karyotype (Klinefelter syndrome) appear to have increased risk of developing cancer, especially male breast cancer, germ cell tumours and non Hodgkin lymphomas, but rarely acute myeloid leukaemia. We report a patient with acute basophilic leukaemia with 47, XXY karyotype in both the tumour and constitutional cells. Acute basophilic leukaemia is very rare disease comprising less than 1% of all acute myeloid leukaemias. Morphological characteristic of leukaemic blast cells is moderately basophilic cytoplasm containing a variable number of coarse basophilic granules. The most characteristic cytochemical reaction is metachromatic positivity with toluidine blue. Blast are myeloperoxidase negative. Also leukemic blasts express myeloid and monocyte markers. There is no consistent chromosomal abnormality identified in this leukaemia. This is the first reported case of acute basophilic leukaemia in patient with Klinefelter syndrome. In this article the medical history of the patient is given and the possible connection between Klinefelter syndrome and acute myeloid leukaemia is discussed.
Asunto(s)
Síndrome de Klinefelter/complicaciones , Leucemia Basofílica Aguda/complicaciones , Crisis Blástica , Células de la Médula Ósea/patología , Aberraciones Cromosómicas , Mapeo Cromosómico , Resultado Fatal , Humanos , Cariotipificación , Síndrome de Klinefelter/genética , Síndrome de Klinefelter/patología , Leucemia Basofílica Aguda/genética , Leucemia Basofílica Aguda/patología , Masculino , Persona de Mediana Edad , Insuficiencia Multiorgánica/patologíaRESUMEN
Great studies of multiple myeloma (MM) strongly suggested that specific chromosomal changes are of prognostic significance in patients with MM1. We have performed cytogenetic analysis and recently fluorescent in situ hybridization (FISH) on 43 cases of MM. Clonal chromosomal changes were present in 24 (56%) cases. Hyperdiploid karyotype was found in 12 (50%) cases, hypodiploid in 8 (33%) cases, and 4 (17%) cases had a pseudodiploid karyotype. The most common numerical abnormalities were gains of whole chromosomes 15, 11, 3 and 6. Whole chromosome losses were also frequent involving chromosomes X, 13, 14, and 8. Most cases showed also structural rearrangements 71% (n = 17): del(1p), dup(1q), del(5q), del(13q), del(17p) and t(11;14)(q13;q32) (n = 4, 17%). Chromosome -13/13q deletion was found in 42% (n = 10) cases; complete loss of 13 was observed in 67% (n = 7) cases, whereas 33% (n = 3) had interstitial deletions. In the majority of the cases there was a mixture of abnormal and normal metaphases.