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。 22-year-old female patient, because “physical examination found serum creatinine increased” treatment. Patients with polydipsia, serum creatinine increased, proteinuria, hematuria, decreased urine specific gravity, renal B ultrasound seen along the junction of the formation of renal cysts at the junction of the skin. Gene analysis found that NPHP1 and ZNF423 two kinds of pathogenic genetic disease caused by consumption of kidney disease, diagnosed as youth-type renal desensitization. This patient is the first renal consumptive disease diagnosed in China by genetic analysis.