Proesmans Willem, Van Dyck Maria, Devriendt Koenraad
Renal Unit, Department of Pediatrics, University Hospital Gasthuisberg, 3000 Leuven, Belgium.
Nephrol Dial Transplant. 2009 Apr;24(4):1335-8. doi: 10.1093/ndt/gfn725. Epub 2009 Jan 15.
A girl, second child of healthy parents, was referred to the Renal Unit at the age of 9 months with haematuria (230 RBC/microl) and proteinuria (2.4 g/l). Serum creatinine was normal (0.25 mg/dl), albumin low (34 g/l) and cholesterol elevated (223 mg/dl). Physical examination showed bilateral webbing of the elbows, equinovarus of both feet and absent patellae. The clinical diagnosis of nail-patella syndrome was confirmed by demonstrating a splice mutation in the intron 5 (750 + 1 G>A) of the LMX1B gene. Treatment with enalapril for 2 years (0.1-1 mg/kg per day) did not bring about any change in urinary protein excretion. However, enalapril (1 mg/kg per day) associated with losartan (1 mg/kg per day) resulted in complete remission (proteinuria 140 mg/24 h) at the age of 7 years.
一名女孩，是健康父母的第二个孩子，9个月大时因血尿（每微升230个红细胞）和蛋白尿（2.4克/升）被转诊至肾脏科。血清肌酐正常（0.25毫克/分升），白蛋白低（34克/升），胆固醇升高（223毫克/分升）。体格检查发现双侧肘部蹼状畸形、双足马蹄内翻畸形和髌骨缺失。通过检测LMX1B基因第5内含子（750 + 1 G>A）的剪接突变，确诊为指甲-髌骨综合征。用依那普利治疗2年（每天0.1 - 1毫克/千克），尿蛋白排泄无任何变化。然而，依那普利（每天1毫克/千克）联合氯沙坦（每天1毫克/千克）在患儿7岁时使蛋白尿完全缓解（24小时蛋白尿140毫克）。
