肾脏病与透析肾移植杂志 ›› 2022, Vol. 31 ›› Issue (5): 490-493.DOI: 10.3969/j.issn.1006-298X.2022.05.019
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摘要： 青少年男性,慢性起病,上呼吸道感染就诊时发现双肾囊肿、慢性肾功能不全。临床表现易烦渴,发育尚正常。实验室检查示少量蛋白尿伴血清肌酐升高和贫血。肾脏病理光镜表现为肾小管间质重度慢性病变,部分肾小管囊样扩张。基因测序发现NPHP1基因纯合缺失突变,父母均为杂合子。最终诊断为NPHP1基因突变相关的肾消耗病。
关键词: 肾消耗病, 肾囊肿, 肾活检
Abstract: A young male was accidentally found renal cysts and renal insufficiency by influenza. He presented with polydipsia and had normal growth and development. The laboratory tests exhibited mild proteinuria, elevated serum creatinine and anemia. A kidney biopsy was performed and revealed chronic tubulointerstitial nephritis and cystic dilatation of renal tubules. A homozygous NPHP1 gene deletion mutation was detected by genetic sequencing. Finally, the patient was diagnosed with NPHP1 deletionrelated nephronophthisis.
Key words: nephronophthisis, renal cyst, renal biopsy
梁丹丹, 陈文萃, 曾彩虹. 肾消耗病[J]. 肾脏病与透析肾移植杂志, 2022, 31(5): 490-493.
LIANG Dandan, CHEN Wencui, ZENG Caihong. Nephronophthisis[J]. Chinese Journal of Nephrology, Dialysis & Transplantation, 2022, 31(5): 490-493.
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http://www.njcndt.com/CN/Y2022/V31/I5/490
