Pathological Renal Findings of Chronic Renal Failure in a Patient with the E66Q Mutation in the α-galactosidase A Gene
-
- Fujita Takayuki
- Division of Nephrology, Hypertension and Endocrinology, Department of Medicine, Nihon University School of Medicine, Japan
-
- Satomura Atsushi
- Division of Laboratory Medicine, Department of Pathology and Microbiology, Nihon University School of Medicine, Japan
-
- Nakayama Tomohiro
- Division of Laboratory Medicine, Department of Pathology and Microbiology, Nihon University School of Medicine, Japan
-
- Kusano Hiroyuki
- Kasukabe-Kisen Hospital, Japan
-
- Takayama Eiichi
- Kasukabe-Kisen Hospital, Japan
-
- Hamada Hiroaki
- Kasukabe-Kisen Hospital, Japan
-
- Maruyama Toshiharu
- Kasukabe-Kisen Hospital, Japan
書誌事項
- タイトル別名
-
- Pathological Renal Findings of Chronic Renal Failure in a Patient with the E66Q Mutation in the α-galactosidase A Gene
- 公開日
- 2015
- 資源種別
- journal article
- DOI
-
- 10.2169/internalmedicine.54.3279
- 公開者
- 一般社団法人 日本内科学会
この論文をさがす
説明
A 66-year-old Japanese man was diagnosed with interstitial nephritis on a renal biopsy at 45 years of age and began to receive hemodialysis at 65 years of age. He was suspected of having Fabry disease as a result of a screening study for Fabry disease performed in hemodialysis patients. He had an E66Q mutation in the α-galactosidase A gene. We conducted an electron microscopic examination of a renal biopsy specimen obtained when the patient was diagnosed with chronic renal failure at 45 years of age in order to elucidate the pathogenicity of the E66Q mutation. Interestingly, an electron microscopic examination of the renal biopsy specimen indicated no characteristic findings of Fabry disease.<br>
収録刊行物
-
- Internal Medicine
-
Internal Medicine 54 (14), 1819-1824, 2015
一般社団法人 日本内科学会
