肾脏病与透析肾移植杂志
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摘要： 48岁男性患者，临床表现为少量蛋白尿及镜下血尿，病初曾伴双下肢出血性皮疹及一过性急性肾损伤，目前肾功能正常。患者否认肾脏疾病家族史。肾活检病理示肾小球系膜增生性病变伴系膜区IgA沉积，同时灶性肾小管上皮细胞核增大。基因测序结果示FAN1基因纯合错义突变(c.2810G＞T,p.G937V)。最终诊断为IgA血管炎合并巨核细胞性间质性肾炎。
关键词: IgA血管炎, 巨核细胞性间质性肾炎, 肾活检
Abstract: A 48yearold man presented with mild proteinuria,hematuria，transient acute renal injury and cutaneous purpura in both lower extremities.He denied a family history of kidney disease.Renal biopsy revealed mesangial proliferative glomerulonephritis and immunofluorescence showed IgAdominant staining of mesangium.In addition,numerous markedly enlarged and hyperchromatic nuclei were identified in the tubular epithelial cells of all parts of the nephron.Genetic evaluation revealed a homozygous missense mutation in FAN1 gene (c.2810G＞T,p.G937V).He was diagnosed with IgA vasculitis concurrent with karyomegalic interstitial nephritis.
Key words: IgA vasculitis, karyomegalic interstitial nephritis, renal biopsy
梁丹丹,焦晨峰,程震, 等. IgA血管炎合并巨核细胞性间质性肾炎[J]. 肾脏病与透析肾移植杂志, DOI: 10.3969/j.issn.1006-298X.2019.06.018.
LIANG Dandan,JIAO Chenfeng,CHENG Zheng, et al. [J]. Chinese Journal of Nephrology, Dialysis & Transplantation, DOI: 10.3969/j.issn.1006-298X.2019.06.018.
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http://www.njcndt.com/CN/Y2019/V28/I6/586
