Your browser doesn't support javascript.
loading
Fabry Nephropathy in a Young Female Patient Presenting with Only Urinary Mulberry Bodies Treated with Chaperone Therapy.
Fukunaga, Tsugumi; Nakayama, Shingo; Hirose, Takuo; Muramatsu, Kishin; Endo, Akari; Miyake, Yuka; Anan, Go; Oba-Yabana, Ikuko; Kanno, Atsuhiro; Nakamura, Hannah; Tani, Junichi; Nakamura, Kimitoshi; Sumitomo, Kazuhiro; Yumura, Wako; Furukawa, Katsutoshi; Mori, Takefumi.
Afiliação
  • Fukunaga T; Division of Nephrology and Endocrinology, Faculty of Medicine, Tohoku Medical and Pharmaceutical University, Sendai, Japan.
  • Nakayama S; Department of Nephrology, Japan Self-Defense Forces Sendai Hospital, Sendai, Japan.
  • Hirose T; Division of Nephrology and Endocrinology, Faculty of Medicine, Tohoku Medical and Pharmaceutical University, Sendai, Japan.
  • Muramatsu K; Division of Nephrology and Endocrinology, Faculty of Medicine, Tohoku Medical and Pharmaceutical University, Sendai, Japan.
  • Endo A; Department of Endocrinology and Applied Medical Science, Tohoku University Graduate School of Medicine, Sendai, Japan.
  • Miyake Y; Division of Integrative Renal Replacement Therapy, Faculty of Medicine, Tohoku Medical and Pharmaceutical University, Sendai, Japan.
  • Anan G; Division of Nephrology and Endocrinology, Faculty of Medicine, Tohoku Medical and Pharmaceutical University, Sendai, Japan.
  • Oba-Yabana I; Division of Nephrology and Endocrinology, Faculty of Medicine, Tohoku Medical and Pharmaceutical University, Sendai, Japan.
  • Kanno A; Division of Nephrology and Endocrinology, Faculty of Medicine, Tohoku Medical and Pharmaceutical University, Sendai, Japan.
  • Nakamura H; Department of Nephrology, Japan Self-Defense Forces Sendai Hospital, Sendai, Japan.
  • Tani J; Department of Urology, Tohoku Medical and Pharmaceutical University, Sendai, Japan.
  • Nakamura K; Division of Nephrology and Endocrinology, Faculty of Medicine, Tohoku Medical and Pharmaceutical University, Sendai, Japan.
  • Sumitomo K; Division of Community Medicine, Tohoku Medical and Pharmaceutical University, Sendai, Japan.
  • Yumura W; Division of Nephrology and Endocrinology, Faculty of Medicine, Tohoku Medical and Pharmaceutical University, Sendai, Japan.
  • Furukawa K; Division of Nephrology and Endocrinology, Faculty of Medicine, Tohoku Medical and Pharmaceutical University, Sendai, Japan.
  • Mori T; Department of Pediatrics, Graduate School of Medical Sciences, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan.
Case Rep Nephrol Dial ; 11(3): 355-361, 2021.
Article em En | MEDLINE | ID: mdl-35083291
ABSTRACT
Fabry disease (FD) is an X-linked disorder of the sphingolipid metabolism, caused by deficiency or decreased activity of α-galactosidase A. We report a rare case of Fabry nephropathy (FN) in a 21-year-old Japanese female patient presenting with only urinary mulberry bodies; she was treated with pharmacological chaperone therapy (PCT) after renal biopsy. The patient underwent a detailed examination because her mother was diagnosed with FD in the Division of Community Medicine of our hospital. She did not have renal dysfunction or proteinuria, and only mulberry bodies were detected in the urine. The activity of α-galactosidase A was low, and genetic analysis revealed the R301Q mutation. A percutaneous renal biopsy was performed, and the findings revealed enlargement and vacuolation of glomerular podocytes by light microscopy, and myelin and zebra bodies were detected in podocytes by electron microscopy. She was diagnosed with FN by renal biopsy and gene analysis. PCT was selected as the treatment to prevent cardiac events and renal dysfunction. The present case suggests that renal biopsy may be necessary even for young women with only mulberry bodies for the diagnosis of FN. It could be useful to evaluate the effect of treatment using the counts of mulberry bodies in the urine. In addition, due to its oral administration, PCT may be suitable for patients who are unable to visit the hospital frequently.
Palavras-chave

Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2021 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2021 Tipo de documento: Article