RESUMEN
A 52-year-old woman had been found to have hematuria at her annual checkup 5 years in a row. She hoped to donate her kidney to her husband, so we performed a percutaneous kidney biopsy at our department. It was difficult for us to detect apparent abnormalities under a light microscopic examination, and she was determined to meet the eligibility criteria for living kidney transplantation. However, the sample for electron microscopy was not evaluated before kidney donation. She subsequently underwent living kidney transplantation as a donor. A 1-h biopsy revealed swelling and obvious vacuolation of the glomerular podocytes, which were characteristic of Fabry disease. Her medical history and examinations were reviewed. No findings or episodes were observed. Pre-donation electronmicroscopy revealed numerous zebra bodies in the podocytes. A definite diagnosis of heterozygous Fabry disease was made based on the GLA gene mutation despite the normal range of leukocyte α-Gal A activity. Based on the pathological deposition of GL-3, chaperone therapy was initiated to suppress the progression of organ damage. In this case, we could not confirm a diagnosis of Fabry disease despite performing a renal biopsy prior to kidney donation. Kidney donor candidates may sometimes have factors that cannot be assumed based on medical or family history. Thus, it is important to perform a renal biopsy before kidney donation when necessary, and to always conduct a detailed evaluation including electron microscopy.
Asunto(s)
Enfermedad de Fabry/diagnóstico , Enfermedad de Fabry/genética , Trasplante de Riñón/normas , Riñón/ultraestructura , Podocitos/patología , 1-Desoxinojirimicina/administración & dosificación , 1-Desoxinojirimicina/análogos & derivados , 1-Desoxinojirimicina/uso terapéutico , Biopsia/métodos , Enfermedad de Fabry/tratamiento farmacológico , Enfermedad de Fabry/patología , Femenino , Hematuria/diagnóstico , Hematuria/etiología , Heterocigoto , Humanos , Riñón/patología , Donadores Vivos , Chaperones Médicos , Microscopía Electrónica/métodos , Persona de Mediana Edad , Mutación , Podocitos/ultraestructura , Resultado del Tratamiento , alfa-Galactosidasa/genéticaRESUMEN
A 52-year-old man was referred to our clinic. One week before his visit, he had complained of left eye pain and double vision. His clinical features were exacerbated. Despite the acute onset, which is atypical of thyroid eye disease (TED), TED was suspected due to the patient's history of Graves' disease (GD). After conducting clinical examinations and orbital magnetic resonance imaging, the patient was diagnosed with idiopathic orbital myositis (IOM), and intravenous glucocorticoid therapy was administered. After treatment, the patient's clinical manifestations dramatically improved. This is a rare case in that the history of GD made it difficult to differentiate IOM from TED.
