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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| Format: | Article |
| Language: | English |
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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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| author | Marina López-Martínez Fernando Martínez-Valle Alejandra Gabaldón Juan Carlos León-Román María Teresa Salcedo María José Soler |
| author_facet | Marina López-Martínez Fernando Martínez-Valle Alejandra Gabaldón Juan Carlos León-Román María Teresa Salcedo María José Soler |
| author_sort | Marina López-Martínez |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-6e5dd0d09a664c96be5e2a2ed8cee9d2 |
| institution | OA Journals |
| issn | 2767-7664 |
| language | English |
| publishDate | 2024-08-01 |
| publisher | American College of Physicians |
| record_format | Article |
| series | Annals of Internal Medicine: Clinical Cases |
| spelling | doaj-art-6e5dd0d09a664c96be5e2a2ed8cee9d22025-08-20T02:11:43ZengAmerican College of PhysiciansAnnals of Internal Medicine: Clinical Cases2767-76642024-08-013810.7326/aimcc.2023.1497Erdheim–Chester Disease With MAP2K (p.K57N) Mutation Diagnosed With Kidney BiopsyMarina López-Martínez0Fernando Martínez-Valle1Alejandra Gabaldón2Juan Carlos León-Román3María Teresa Salcedo4María José Soler51Department of Nephrology, Vall d'Hebron University Hospital, Barcelona, Spain2Department of Internal Medicine, Vall d'Hebron University Hospital, Barcelona, Spain3Department of Pathology, Vall d'Hebron University Hospital, Barcelona, Spain1Department of Nephrology, Vall d'Hebron University Hospital, Barcelona, Spain3Department of Pathology, Vall d'Hebron University Hospital, Barcelona, Spain1Department of Nephrology, Vall d'Hebron University Hospital, Barcelona, SpainThis 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.https://www.acpjournals.org/doi/10.7326/aimcc.2023.1497 |
| spellingShingle | Marina López-Martínez Fernando Martínez-Valle Alejandra Gabaldón Juan Carlos León-Román María Teresa Salcedo María José Soler Erdheim–Chester Disease With MAP2K (p.K57N) Mutation Diagnosed With Kidney Biopsy Annals of Internal Medicine: Clinical Cases |
| title | Erdheim–Chester Disease With MAP2K (p.K57N) Mutation Diagnosed With Kidney Biopsy |
| title_full | Erdheim–Chester Disease With MAP2K (p.K57N) Mutation Diagnosed With Kidney Biopsy |
| title_fullStr | Erdheim–Chester Disease With MAP2K (p.K57N) Mutation Diagnosed With Kidney Biopsy |
| title_full_unstemmed | Erdheim–Chester Disease With MAP2K (p.K57N) Mutation Diagnosed With Kidney Biopsy |
| title_short | Erdheim–Chester Disease With MAP2K (p.K57N) Mutation Diagnosed With Kidney Biopsy |
| title_sort | erdheim chester disease with map2k p k57n mutation diagnosed with kidney biopsy |
| url | https://www.acpjournals.org/doi/10.7326/aimcc.2023.1497 |
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