Albishri Jamal
Dept. of Medicine, College of Medicine, Taif University, Al-Hawiyah - Taif, Saudi Arabia.
Ger Med Sci. 2014 Nov 13;12:Doc16. doi: 10.3205/000201. eCollection 2014.
Nail-patella syndrome (NPS) is a pleiotropic autosomal-dominant disorder due to mutations in the gene LMX1B. It has traditionally been characterized by a tetrad of dermatologic and musculoskeletal abnormalities. However, one of the most serious manifestations of NPS is kidney disease, which may be present in up to 40% of affected individuals. Although diagnosis can be made at birth, it is often missed, presumably due to the rarity of the condition. A 35-year-old female presented to our clinic with history of small joint pain of 6 months duration. In addition she complained of pedal edema off and on for the last 12 years. Prior to her current presentation she had been managed by a local doctor symptomatically. On evaluation, a nephrotic syndrome was obvious, but no secondary cause could be found. However, her physical examination was characteristic of NPS and keeping in view the autosomal dominant nature of the disorder all her three siblings were screened who too showed classical features of NPS. This rare syndrome as a cause of nephrotic range proteinuria is discussed in this report. The report underlines the importance of a good physical examination in a given clinical setting.
指甲-髌骨综合征（NPS）是一种由LMX1B基因突变引起的多效性常染色体显性疾病。传统上，它的特征是皮肤和肌肉骨骼异常的四联征。然而，NPS最严重的表现之一是肾脏疾病，高达40%的受影响个体可能会出现这种情况。虽然出生时即可诊断，但该病常被漏诊，推测是由于其罕见性。一名35岁女性因持续6个月的小关节疼痛病史前来我院就诊。此外，她还诉说在过去12年里时有足部水肿。在本次就诊之前，她一直在当地医生处接受对症治疗。经评估，肾病综合征明显，但未发现继发原因。然而，她的体格检查具有NPS的特征，鉴于该疾病的常染色体显性性质，对她的三个兄弟姐妹进行了筛查，他们也表现出NPS的典型特征。本报告讨论了这种罕见综合征作为肾病范围蛋白尿病因的情况。该报告强调了在特定临床环境中进行全面体格检查的重要性。
