Ekim M, Tümer N, Atmaca L, Anadolu R, Salih M, Dönmez O, Ozkaya N
Ankara University Faculty of Medicine, Department of Pediatric Nephrology, Turkey.
Pediatr Nephrol. 1998 Apr;12(3):183-5. doi: 10.1007/s004670050432.
We describe an 11-year-old girl with severe renin-dependent hypertension. She had characteristic cutaneous, ocular, and vascular signs of pseudoxanthoma elasticum (PXE), and the diagnosis was confirmed histologically. Because PXE is a heterogeneous heritable disorder, the family was evaluated for this condition. Since the patient's mother and brother showed some manifestations of PXE, autosomal dominant inheritance is the most likely inheritance pattern in this family.
我们描述了一名患有严重肾素依赖性高血压的11岁女孩。她有弹性假黄瘤（PXE）的典型皮肤、眼部和血管体征，组织学检查确诊了该诊断。由于PXE是一种异质性遗传性疾病，对其家族进行了评估。由于患者的母亲和兄弟表现出一些PXE的症状，常染色体显性遗传是该家族最可能的遗传模式。
