Abstract | RATIONALE: PATIENT CONCERNS: The patient was a 38-year-old male with nephrotic range proteinuria. He didn't respond to prednisone 65mg/day. Kidney biopsy in our hospital showed FSGS with several hypoplasia and tiny loops. In addition, focal thickening and disorganization of the glomerular gasement membrane as well as diffuse foot process effacement were observed in electron microscope. DIAGNOSES: Genetic testing indicated homozygous deletion mutation of MYO1E. The patient was diagnosed with genetic FSGS caused by MYO1E homozygous mutation. INTERVENTIONS: OUTCOMES: LESSONS: MYO1E autosomal recessive mutation was a rare FSGS causative mutation that might benefit from CsA treatment. However, the long-term effect of CsA on FSGS caused by this mutation should be investigated in the future.
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Authors | Ruizhao Li, Wei Dong, Yingwen Chen, Tianwei Tang, Xingchen Zhao, Li Zhang, Xinling Liang |
Journal | Medicine
(Medicine (Baltimore))
Vol. 102
Issue 4
Pg. e32683
(Jan 27 2023)
ISSN: 1536-5964 [Electronic] United States |
PMID | 36705362
(Publication Type: Case Reports, Journal Article)
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Copyright | Copyright © 2023 the Author(s). Published by Wolters Kluwer Health, Inc. |
Chemical References |
- Cyclosporine
- Glucocorticoids
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Topics |
- Male
- Adult
- Humans
- Cyclosporine
(therapeutic use)
- Glomerulosclerosis, Focal Segmental
(drug therapy, genetics)
- Glucocorticoids
(therapeutic use)
- East Asian People
- Homozygote
- Sequence Deletion
- Mutation
- Proteinuria
(drug therapy)
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