INF2 mutationsin Charcot-Marie-Tooth disease complicated with focal segmental glomerulosclerosis.
INF2 mutationsin Charcot-Marie-Tooth disease complicated with focal segmental glomerulosclerosis.
复制标题
夏科-马里-图思病并发局灶节段性肾小球硬化症中的 INF2 突变。
DOI：
10.1111/jns5.12014
复制
发表时间：
2013
期刊：
影响因子：
--
通讯作者：
Hayasaka K.
中科院分区：
文献类型：
--
作者：
Toyota K;Ogino D;Hayashi M;Taki M;Saito K;Abe A;Hashimoto T;Umetsu K;Tsukaguchi H;Hayasaka K.
亲爱的编辑，腓骨肌萎缩症（CMT）是最常见的遗传性周围神经病变，影响周围神经系统的运动和感觉神经。这种疾病在遗传上是高度异质性的，根据神经传导研究分为脱髓鞘、中间型和轴突型。CMT的临床表型也是可变的，并且已经报道了一组患者与肾脏疾病特别是局灶节段性肾小球硬化（FSGS）相关（Paul等人，1990年）。最近，反向INF 2（INF 2）突变被鉴定为与FSGS相关的CMT的主要原因（Boyer等人，2011年）。我们遇到了三名CMT患者与FSGS，并试图找到原因。例1出生时及发育过程中未见异常。她有一个类似的弟弟（病例2）。她的非血亲父母身体健康，没有肾脏或神经肌肉疾病的症状。她最初在11岁时的一次年度学校健康检查中被发现有蛋白尿。她接受类固醇治疗，但没有反应。她被诊断为FSGS的基础上，肾活检的结果，并与免疫抑制剂治疗，包括环孢素管理。她对治疗没有反应，并从14年开始接受腹膜透析。当时，她主诉步态障碍，并显示远端肌肉无力和上下肢萎缩。在15岁时的检查中，她表现出踏步步态、高脚、上下肢远端肌无力和萎缩，以及下肢深腱反射降低，但没有感觉障碍。电生理检查显示双侧正中神经运动神经传导速度（MCV）降低（20和19 m/s）。
Dear Editor, Charcot-Marie-Tooth (CMT) disease is the most common inherited peripheral neuropathy affecting motor and sensory nerves of the peripheral nervous system. The disease is genetically highly heterogeneous and is classified into demyelinating, intermediate, and axonal forms based on nerve conduction studies. The clinical phenotype of CMT is also variable, and a group of patients has been reported in association with renal diseases especially focal segmental glomerulosclerosis (FSGS)(Paul et al., 1990). Recently, inverted formin 2 (INF2) mutation was identified as a major cause of CMT associated with FSGS (Boyer et al., 2011). We encountered three patients with CMT associated with FSGS and attempted to find the cause. Case 1 showed no abnormality at birth or during development. She had a similarly affected younger brother (case 2). Her non-consanguineous parents were healthy and had no symptoms of renal or neuromuscular diseases. She was initially found to have proteinuria at 11years old at an annual school health check-up. She received steroid therapy, but did not respond to it. She was diagnosed with FSGS based on the findings of renal biopsy and was treated with immunosuppressant therapy including cyclosporine administration. She did not respond to the therapy, and received peritoneal dialysis from 14 years. At that time, she complained of gait disturbance and showed distal muscle weakness and atrophy of the upper and lower extremities. On examination at 15years, she showed steppage gait, pes cavus, distal muscle weakness and atrophy of the upper and lower extremities, and decreased deep tendon reflexes of the lower extremities, but had no sensory disturbances. Electrophysiological studies showed decreased motor nerve conduction velocities (MCV)(20 and 19 m/s) in the bilateral median nerves.