A case of latent heterozygous Fabry disease in a female living kidney donor candidate
| Autor: | Hideki Enokida, Akihiko Mitsuke, Mai Nakahara, Norihiko Goto, Masato Minami, Yasutoshi Yamada, Yumi Oda, Emiko Mizuma, Haruhito Yoshimine, Akio Ido, Kosuke Masutani, Koki Tokunaga |
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| Rok vydání: | 2019 |
| Předmět: |
Nephrology
medicine.medical_specialty Pathology Heterozygote 1-Deoxynojirimycin Biopsy 030232 urology & nephrology Case Report 030204 cardiovascular system & hematology Kidney 03 medical and health sciences 0302 clinical medicine Internal medicine Migalastat medicine Living Donors Humans Medical history Kidney transplantation Hematuria medicine.diagnostic_test business.industry Podocytes General Medicine Middle Aged medicine.disease Fabry disease Kidney Transplantation Microscopy Electron medicine.anatomical_structure Treatment Outcome alpha-Galactosidase Mutation Medical Chaperones Fabry Disease Female Renal biopsy business |
| Zdroj: | CEN Case Rep |
| ISSN: | 2192-4449 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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