Abstract | BACKGROUND: CASE PRESENTATION: A 67-year-old Japanese man was admitted to our hospital because of emesis, abdominal pain, and facial edema due to nephrotic syndrome. The patient was diagnosed with focal segmental glomerulosclerosis (FSGS) by renal biopsy before being diagnosed with FD, and immunotherapy was initiated. After treatment, the kidney biopsy results showed typical glycosphingolipid accumulation in the podocytes of this patient. The white blood cell α-gal activity was very low, and genetic analysis revealed a GLA gene variant (M296I), which is known as a late-onset genetic mutation of FD. Immunotherapy ( steroids and cyclosporine A) dramatically improved the massive proteinuria. Currently, he has been undergoing enzyme replacement therapy, and his proteinuria has further decreased. There is the possibility that other nephrotic syndromes, such as minimal change nephrotic syndrome or FSGS, may co-exist in this patient. CONCLUSIONS:
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Authors | Hironobu Fujisawa, Yosuke Nakayama, Shoichiro Nakao, Ryo Yamamoto, Yuka Kurokawa, Nao Nakamura, Akiko Nagata, Takahiro Tsukimura, Tadayasu Togawa, Hitoshi Sakuraba, Kei Fukami |
Journal | BMC nephrology
(BMC Nephrol)
Vol. 20
Issue 1
Pg. 469
(12 17 2019)
ISSN: 1471-2369 [Electronic] England |
PMID | 31847900
(Publication Type: Case Reports, Journal Article, Review)
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Chemical References |
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Topics |
- Aged
- Fabry Disease
(blood, complications, drug therapy)
- Humans
- Immunosuppressive Agents
(therapeutic use)
- Male
- Nephrotic Syndrome
(blood, complications, drug therapy)
- Treatment Outcome
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