Autor: |
Brunger, Anne F., Nienhuis, Hans L. A., Bijzet, Johan, Zonneveld-Huijssoon, Evelien, Sanders, Jan S. F., Legger, Geertje E., Gans, Reinold O.B, Hazenberg, Bouke P. C. |
Předmět: |
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Zdroj: |
Amyloid; Mar2024, Vol. 31 Issue 1, p82-84, 3p |
Abstrakt: |
This document reports on two patients, a father and daughter, who both developed AA amyloidosis as a complication of the PAMI syndrome, which stands for PSTPIP1-associated myeloid-related proteinemia inflammatory syndrome. The father had a history of various health issues, including acute rheumatic fever, furunculosis, and neutropenia. He eventually developed renal failure and died. The daughter experienced sterile pyogenic arthritis, neutropenia, and hepatosplenomegaly before developing renal failure and receiving a kidney transplant. Both patients were found to have a mutation in the PSTPIP1 gene. This case highlights the challenges in diagnosing AA amyloidosis and suggests that genetic testing for PSTPIP1 gene mutations should be considered in patients with unexplained neutropenia and a history of chronic inflammation. [Extracted from the article] |
Databáze: |
Complementary Index |
Externí odkaz: |
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