Cases reported "Kidney Failure, Chronic"

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1/7. Delayed recurrence of hepatocellular carcinoma after liver transplantation: detection of origin by chromosomal analysis.

    We report on a 41-year-old man undergoing liver transplantation for chronic hepatitis c who presented 26 months later with hepatocellular carcinoma. No evidence of hepatocellular carcinoma could be found in the native liver, although features of small cell dysplasia were prominent. Although he had recurrent hepatitis c, the transplanted liver was not cirrhotic. Chromosomal analysis was used to resolve whether this was a de novo tumor or a recurrence of an unsuspected tumor present at the time of transplantation. This male patient had received a liver from a female donor, and in situ hybridization for the y chromosome showed reactivity in the tumor but not in surrounding nontumorous liver. Thus, this is an example of the use of chromosomal analysis to resolve the origin of a tumor occurring in the transplant setting.
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2/7. Post-transplantation lymphoproliferative disease of natural killer cell lineage: a clinicopathological and molecular analysis.

    Post-transplantation lymphoproliferative disorders (PTLD) occur after solid organ and bone marrow transplantation. They are predominantly of B-cell and occasionally of T-cell lineage. We report a case of PTLD of natural killer (NK) cell lineage. A renal allograft recipient developed progressive pancytopenia 1 year after transplantation. Serial bone marrow biopsies showed an increasing infiltration by large granular lymphoid cells. A subsequent leukaemic phase also developed with systemic infiltration of other organs. immunophenotyping showed that these cells were CD2 , CD3-, CD3epsilon , CD56 , CD94 , CD158a- and CD158b-. in situ hybridization showed Epstein-Barr virus (EBV) infection of the neoplastic cells. Genotypical analysis showed the T-cell receptor gene in germline configuration and clonal EBV episomal integration. The overall features were consistent with NK cell lymphoma/leukaemia. The patient did not respond to cessation of immunosuppression or anti-EBV treatment. Combination chemotherapy was given, but the patient died ultimately of disseminated fungal infection. In conclusion, we have demonstrated that NK cell lymphoma is another rare type of PTLD that appears to be highly aggressive and therefore may require early chemotherapy to improve treatment outcome.
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3/7. Postmortem diagnosis of "occult" klinefelter syndrome in a patient with chronic renal disease and liver cirrhosis.

    This report describes a patient not suspected of having klinefelter syndrome during life but diagnosed with it following postmortem examination using fluorescent in situ hybridization (FISH) for sex chromosomes and hormone serum analysis. A 49-year-old Japanese man had a history of nephrosis, heavy alcohol consumption, diabetes mellitus, and liver cirrhosis and had been undergoing dialysis for 10 years. He died of ruptured esophageal varices. autopsy revealed hypogonadism, suggesting klinefelter syndrome. This was confirmed by FISH, which showed a mosaic 46XY, 47XXY karyotype, and by serum analysis, which revealed high luteinizing hormone and follicle-stimulating hormone and low testosterone levels. autopsy also revealed a nodular, bilateral, testicular Leydig cell hyperplasia. This report illustrates the value of postmortem laboratory investigations, particularly FISH for sex chromosomes and serum hormone analysis, for the demonstration of clinically uncertain or "occult" klinefelter syndrome.
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4/7. Postrenal transplant non-EBV multiple myeloma of donor origin.

    multiple myeloma occurring after solid organ transplantation is a rare condition, with only a few case reports found in the literature. We report a case of Epstein-Barr virus-negative, posttransplant multiple myeloma in a 67-year-old female, presenting 18 months after renal transplantation. Interestingly, fluorescence in situ hybridization analysis of the tumor revealed a y chromosome in the majority of the cells, indicating that the neoplasm was derived from the donor kidney. To our knowledge, this represents the first reported case with these features.
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5/7. Tubulo-interstitial nephritis associated with polyomavirus (BK type) infection.

    We studied viral injury to the kidney in a six-year-old boy with hyperimmunoglobulin M immunodeficiency who presented with irreversible acute renal failure and eventually died after five months of dialysis. Renal biopsy at the time of his presentation revealed a predominantly tubulo-interstitial process with numerous viral inclusions that were identified as polyomavirus. urine cultures showed a massive viruria with BK-type, polyomavirus. The kidney disease was end stage, with persistence of bk virus identified by morphologic techniques and by culture. dna hybridization analysis showed virus in low concentration in the lymph nodes, spleen, and lungs. The marked viruria, the high concentration of bk virus, and the extensive distribution of viral antigen throughout the kidney all suggest that infection with bk virus was the basis of the severe renal parenchymal injury.
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6/7. Five cases of cytomegalovirus infection detected by in situ hybridization and antigenemia assay.

    We report five cases of cytomegalovirus infection in immunocompromised patients which were detected by either cytomegalovirus antigenemia assay or in situ hybridization. Four cases had leukemia and the other had chronic renal failure. All the three BMT recipients suffered from GvHD. Interestingly, there was an unique case of CMV disease without a history of BMT, which reminded us that CMV could attack immunocompromised patients who had not undergone transplantation, too. Four out of five cases died. We think that cytomegalovirus infection or disease should not be regarded as a minor problem in post-transplantation infection in korea.
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7/7. williams syndrome associated with chronic renal failure and various endocrinological abnormalities.

    A 31-year-old man who had been under regular hemodialysis for 6 months was diagnosed as williams syndrome (WS) by fluorescence in situ hybridization (FISH) chromosomal analysis. The association of WS and chronic renal failure (CRF) is only rarely encountered. Endocrinological examinations revealed hypergonadotropic hypogonadism. Prolonged and exaggerated responses of adrenocorticotropin (ACTH) to insulin-induced hypoglycemia and corticotropin releasing hormone (CRH) were also noted. While most of the endocrinological abnormalities observed in this patient could be attributed to altered endocrine circumstances in CRF, some findings stand in contrast. Furthermore, the testicular biopsy specimen showed severe hypospermatogenesis. Endocrine disorders observed in this patient may be at least in part, responsible for various clinical features underlying WS.
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