本文描述了俩姐妹患伴有胱氨酸尿的Jeune综合征(JS)。Jeune综合征患儿通常死于出生后一个月,存活患儿呈进行性肾衰和肝纤维化。第一个病人于1980年7月剖腹产出。其双亲无血缘关系,产前史正常。出生体重2950g。出生第一周出现呼吸困难,于3个月时诊为JS。7岁时因偶然发生肾功衰竭入院。体重14.3kg,身高104cm,枕额头围69.5cm,血压140/90。实验室检查:BUN6.1mmol/L,肌酐130umol/L,PTH1.5ng/ml(正常<0.8),无尿糖史,磷酸盐和 This article describes Jeune Syndrome (JS) with both cystinuria in both sisters. Children with Jeune’s syndrome usually die one month after birth and have progressive renal failure and liver fibrosis in surviving children. The first patient was delivered by Caesarean section in July 1980. Their parents have no blood relationship, normal prenatal history. Birth weight 2950g. Dyspnea occurred in the first week of life and was diagnosed with JS at 3 months. 7 years old due to incidental renal failure admitted to hospital. Weight 14.3kg, height 104cm, pillow forehead circumference 69.5cm, blood pressure 140/90. Laboratory tests: BUN6.1mmol / L, creatinine 130umol / L, PTH1.5ng / ml (normal <0.8), no history of urine sugar, phosphate and