低渗尿、皮髓交界肾囊肿、肾功能不全

Hyposthenuria,corticomedullary border cysts and renal dysfunction

22岁女性患者,因"体检发现血清肌酐升高"就诊。患者烦渴多饮,血清肌酐升高,无蛋白尿、血尿,尿比重下降,双肾B超见沿皮髓交界分布的肾囊肿形成。基因分析发现NPHP1和ZNF423两种肾消耗病致病性基因突变,诊断为青年型肾消耗病。该患者为国内首例通过基因分析诊断的肾消耗病。

A 22-year-old woman was hospitalized because of elevating serum creatinine discovered by routine health examination. The patient＇s characteristics included polydypsia,decreased urine specific gravity,elevated creatinine without proteinuria or hematuria. Renal ultrasonography revealed multiple cysts development at the corticomedullary border.Gene mutation analysis identified two pathogenic NPHP gene mutations： NPHP1 and ZNF423. The patient was diagnosed as nephronophthisis finally and this is the first case of nephronophthisis diagnosed by gene mutation analysis in China.