RESUMEN
BACKGROUND: Transthyretin-related familial amyloid polyneuropathy (ATTR-FAP) is a rare, progressive, hereditary, highly disabling multisystem disorder. ATTR-FAP phenotypes differ according to the type of TTR mutation, geographic region and other as yet unidentified factors. The aim of this study was to establish the clinical and genetic characteristics of Polish patients. METHODS AND PATIENTS: Clinical data and necessary examinations were collected from patients diagnosed with ATTR-FAP at the Department of Neurology of Medical University of Warsaw between 1970 and 2019. RESULTS: 16 patients from eight unrelated families with five different TTR mutations were identified. The family with Val71Ala TTR mutation presented with early onset severe progressive polyneuropathy, with marked visual symptoms in a few patients. The next family with Ile73Val TTR mutation developed symptoms in middle age, and presented with mixed neuropathic and cardiologic phenotype. Four unrelated families were found to have the Phe33Leu TTR mutation with mixed neuropathic and cardiologic phenotype and late onset of symptoms. Other TTR mutations identified were: Val30Met and Asp38Val, both with late onset sensory, motor and autonomic neuropathy. CONCLUSION: Polish ATTR-FAP cases presented with heterogeneity typical for non-endemic areas. Phe33Leu TTR mutation was the most common, found in four unrelated families.
Asunto(s)
Neuropatías Amiloides Familiares , Prealbúmina , Neuropatías Amiloides Familiares/genética , Humanos , Persona de Mediana Edad , Mutación , Fenotipo , Polonia , Prealbúmina/genéticaAsunto(s)
Endosonografía/métodos , Rechazo de Injerto/patología , Trasplante de Riñón , Trasplante de Páncreas , Páncreas/patología , Ultrasonografía Intervencional/métodos , Adulto , Biopsia con Aguja Gruesa/métodos , Femenino , Rechazo de Injerto/diagnóstico por imagen , Humanos , Biopsia Guiada por Imagen/métodos , Páncreas/diagnóstico por imagenRESUMEN
BACKGROUND: We designed a study with the following aims: to assess tissue quality of 100 cadaveric livers discarded from transplantation, to identify discarded organs which could have been used either for transplantation or for isolation of hepatocytes, to assess donor clinical factors which may impact the histology. MATERIAL/METHODS: Liver wedge biopsies were performed during kidney procurement, sent for processing and data interpretation. RESULTS: In 46% of the evaluated tissues severe changes were found; these organs according to pathologists were "not suitable for transplantation". In 19% less pronounced changes classified organs as "probably not suitable for transplantation". In 35% biopsies only minimal changes were found; these organs were classified as "probably suitable for transplantation" and could have been harvested as marginal organs or at least used for hepatocytes isolation. CONCLUSIONS: Results of biopsies suggested that approximately in one third of livers discarded from transplantation due to clinical donor parameters could have been harvested from histological point of view. Several donor clinical risk factors (alcohol addiction, hyperbilirubinemia, increased transaminase activity) correlate with severe histological changes rending the liver "not suitable for transplantation".
Asunto(s)
Trasplante de Hígado , Hígado/patología , Donantes de Tejidos , Obtención de Tejidos y Órganos/normas , Trasplantes/normas , Adolescente , Adulto , Anciano , Biopsia , Cadáver , Separación Celular , Niño , Preescolar , Contraindicaciones , Hepatocitos/citología , Humanos , Lactante , Persona de Mediana Edad , Factores de RiesgoRESUMEN
The aim of our paper was to describe hepatotoxicity of sirolimus (SRL) in a kidney graft recipient. We report the case of a 30-year-old male after kidney transplantation, treated with steroids, cyclosporin A and SRL, with steroid-resistant acute rejection in anamnesis. At 16th month after transplantation, elevation of serum aminotransfereases was observed. After exclusion of common reasons of this condition, liver biopsy was performed. Nonspecific changes were observed, with probability of drug-induced injury. SRL was changed to mycophenolate mofetil, which was followed by quick normalization of serum aminotransferase levels. Hepatoxicity is a rare complication of SRL therapy and may be connected with some diagnostic and/or therapeutic problems. Conversion to another immunosuppressant seems to be an appropriate procedure in this condition.
Asunto(s)
Enfermedad Hepática Inducida por Sustancias y Drogas/etiología , Rechazo de Injerto/tratamiento farmacológico , Inmunosupresores/efectos adversos , Trasplante de Riñón , Sirolimus/efectos adversos , Enfermedad Aguda , Adulto , Ciclosporina/administración & dosificación , Quimioterapia Combinada , Rechazo de Injerto/patología , Humanos , Inmunosupresores/administración & dosificación , Masculino , Ácido Micofenólico/administración & dosificación , Ácido Micofenólico/análogos & derivados , Sirolimus/administración & dosificación , Esteroides/administración & dosificaciónRESUMEN
Long-term cyclosporine nephrotoxicity, subclinical rejections are risk factors of chronic allograft nephropathy. In a prospective, randomized study 44 pts. were randomized either to a reduced dose of CyA and daclizumab (group A, n = 22) or to a normal dose of CyA without daclizumab (group B, n = 22). Both groups were treated with MMF and prednisone. Number of rejection episodes was the primary endpoint. The secondary endpoints were renal function; histological parameters related to CyA; serum level of TGF-beta, PDGF-BB, blockade of CD25 molecule and surface expression of CD3, CD4, CD8, CD69, CD11a, CD49d, CD28, CD152 molecules in the subpopulations of T cells in the peripheral blood. A low incidence of clinically suspected rejection episodes were observed (19% in group A and 12.4% in group B; NS). The protocol biopsies at 3 month emerged 7 subclinical rejection episodes (4 in group A and 3 in group B). Serum creatinine level did not differ between examined groups. Chronic histopathologic changes related to CyA progressed significantly at the 3 month biopsies in both groups (with no differences between groups). Serum TGF-beta, PDGF did not differ between groups. Expression of CD25, CD152 molecule was significantly lower in group A than in group B. Immunosuppression regiment with low CyA dose with daclizumab, MMF, prednisone seems to be efficient and safe in low-risk rejection kidney allograft recipients.