Yilmaz Fatih, Acikalin Mustafa Fuat, Kasifoglu Timucin
Department of Pathology, Eskisehir Osmangazi University Medical Faculty, Eskisehir, Turkey.
Division of Rheumatology, Department of Internal Medicine, Eskisehir Osmangazi University Medical Faculty, Eskisehir, Turkey.
Int J Rheum Dis. 2023 Feb;26(2):379-382. doi: 10.1111/1756-185X.14489. Epub 2022 Nov 8.
Amyloidosis is a large group of diseases that occur through misfolding of extracellular proteins that accumulate in tissues and organs. Gout is the most common inflammatory arthritis worldwide and starts with the crystallization of uric acid within the joints and soft tissues. Although gouty arthritis is accompanied by inflammation, AA amyloidosis is rarely seen in patients with gout. Here we present a case of AA amyloidosis on the medullary sponge kidney in a 28-year-old man with gout. Our case had been diagnosed with gout 3 years previously, and his older brother was also diagnosed with early-onset gout. As a result of the hyperuricemic nephropathy clinic and familial history, a whole gene sequence analysis was performed on the HPRT1 gene and UMOD gene, but no pathogenic changes were detected. Renal ultrasound revealed a bilateral medullary sponge kidney and amyloidosis was detected in the renal needle biopsy performed for the etiology of proteinuria. In our literature review, we found 16 cases in which gout was accompanied by AA amyloidosis. We present a 17th case and compare it with the other 16 cases.
淀粉样变性是一大类疾病，由细胞外蛋白质错误折叠引起，这些蛋白质在组织和器官中积聚。痛风是全球最常见的炎性关节炎，始于关节和软组织内尿酸结晶。虽然痛风性关节炎伴有炎症，但痛风患者很少发生AA型淀粉样变性。在此，我们报告一例28岁痛风男性患者，其髓质海绵肾并发AA型淀粉样变性。该患者3年前被诊断为痛风，其哥哥也被诊断为早发性痛风。由于高尿酸血症肾病门诊就诊及家族史，对HPRT1基因和UMOD基因进行了全基因序列分析，但未检测到致病变化。肾脏超声显示双侧髓质海绵肾，在因蛋白尿病因进行的肾穿刺活检中检测到淀粉样变性。在我们的文献综述中，发现16例痛风合并AA型淀粉样变性的病例。我们报告第17例病例，并与其他16例进行比较。
