肾单位肾痨的临床病理分析及文献复习
Nephronophthisis:a clinicopathologic analysis with review of literature
张慧 1李红霞 2张文博 1霍延红1
作者信息
- 1. 解放军总医院第一医学中心肾脏病医学部,解放军总医院第七医学中心肾脏病科,北京 100700
- 2. 解放军总医院第七医学中心病理科,北京 100700
- 折叠
摘要
目的 探讨肾单位肾痨(NPHP)的临床病理特点,诊断与鉴别诊断.方法 总结1例NPHP患者临床及肾活检病理资料并进行文献复习.结果 患者女性,21岁,因发现血肌酐升高1周入院,无明显临床症状.化验示低比重尿、尿蛋白及尿红细胞阴性、贫血;B超可见肾实质回声增强,核磁发现右肾上极小囊肿.肾活检病理示肾小管间质肾病伴肾小管囊性扩张,提示遗传性肾小管疾病可能.全基因外显子测序发现NPHP4基因的两个位点突变,该突变可导致肾单位肾痨4型(NPHP4).结论 NPHP为常染色体隐性遗传,临床诊断较为困难,确诊依靠典型的病理改变或基因检测.NPHP病理以肾小管间质病变为主,常表现为三联征:肾小管基底膜破坏、肾小管萎缩及囊性扩张、肾间质纤维化.目前已知的NPHP致病基因有20余种,分子基因筛查可发现致病基因.
Abstract
Objective To explore the clinicopathological characteristics of nephronophthisis.Methods The clinical and pathological data of a case of nephronophthisis were summarized,and the relevant literatures were reviewed.Results The patient had elevated serum creatinine and no obvious clinical symptoms.Tests showed low specific gravity urine,urine protein and urine red blood cells negative,and anemia.B ultrasound showed enhanced renal parenchyma echo.Magnetic resonance showed microcysts on the right kidney.Renal biopsy showed renal tubulointerstitial nephropathy with renal tubulointerstitial cystic dilatation.Two mutations of NPHP4 gene were found whitch lead to nephronophthisis 4.Conclusion The patient is diagnosed as nephronophthisis 4,which is autosomal recessive inheritance.The clinical diagnosis of nephronophthisis is difficult,and the diagnosis depends on typical pathological changes or genetic diagnosis.Nephronophthisis pathology is mainly renal tubulointerstitial lesions,often showing triple signs:renal tubule basement membrane destruction,tubular atrophy and cystic dilatation,renal interstitial fibrosis.There are more than 20 known pathogenic genes of nephronophthisis,which can be found by molecular gene screening.
关键词
肾单位肾痨/NPHP/临床病理/基因突变Key words
Nephronophthisis/NPHP/Clinical pathology/Gene mutation引用本文复制引用
出版年
2024
NETL
NSTL
万方数据