Erdheim–Chester Disease With MAP2K (p.K57N) Mutation Diagnosed With Kidney Biopsy
This case study presents Erdheim–Chester disease (ECD) diagnosed by kidney biopsy in a middle-aged woman who needed hemodialysis. She was admitted with dyspnea, congestive heart failure, and acute kidney injury. A kidney biopsy revealed histiocytosis renal infiltration and molecular mutation (MAP2K...
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| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
American College of Physicians
2024-08-01
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| Series: | Annals of Internal Medicine: Clinical Cases |
| Online Access: | https://www.acpjournals.org/doi/10.7326/aimcc.2023.1497 |
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| Summary: | This case study presents Erdheim–Chester disease (ECD) diagnosed by kidney biopsy in a middle-aged woman who needed hemodialysis. She was admitted with dyspnea, congestive heart failure, and acute kidney injury. A kidney biopsy revealed histiocytosis renal infiltration and molecular mutation (MAP2K p.K57N) in the mitogen-activated protein kinase (MAPK) pathway, confirming ECD. Corticosteroid treatment resulsted in recovered renal function after 3 months. To our knowledge, this is the first well-documented case of this association. In patients with acute kidney injury and histiocytosis infiltration in the kidney, ECD should be considered, with steroids being a plausible treatment of histiocytosis infiltration in the kidney. |
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| ISSN: | 2767-7664 |