Andersen-Tawil综合征的临床特点(附1例报告)

目的探讨Andersen-Tawil综合征(ATS)的临床特点。方法回顾性分析1例ATS患者的临床资料。结果本例患者女,42岁,主要表现为小下颌、低位耳、高弓足和跟腱挛缩,四肢近端为主的肌无力,双侧腓肠肌肥大。血钾降低,餐后2 h血糖和促甲状腺激素轻度升高;尿糖强阳性,尿重碳酸盐升高。诱发运动试验示运动后60 min和120 min运动神经波幅降低,多发运动神经远端波幅降低。ECG示频发室性期前收缩。17号染色体KCNJ2基因发现杂合突变:c.431GC(p.G144A)。诊断为ATS,近端肾小管损伤,糖耐量受损,多发神经病,亚临床甲状腺功能减低。经补钾治疗,肌力和ECG恢复正常。结论 ATS可以伴随三联征外的其他表现。

Clinical features of Andersen-Tawil syndrome (report of 1 case)

Objective To study the clinical features of Andersen-Tawil syndrome ( ATS ) .Methods The clinical data of one patient with ATS was retrospectively analyzed.Results The main manifestations of a 42 years old female patient were micrognathia, low set ears, pes cavus, contracture of achilles tendon.The weakness of four limbs was more serious in the proximal than in the distal.Bilateral gastrocnemius muscles were hypertrophy.Serum potassium decreased and 2 hours postprandial blood glucose and thyroid stimulating hormon were mildly increased. Urinary glucose was strong positive.Urinary bicarbonate was elevated.The long exercise nerve conduction study revealed reduced compound motor action potential amplitude at 60 min and 120 min after exercise.Action potential amplitudes decreased in distal part of multiple motor nerves. ECG displayed frequent ventricular premature contractions.Heterozygous mutation was discovered at gene KCNJ2 in chromosome 17: c.431G>C (p.G144A). The diagnosis of the patient was ATS, proximal renal tubular damage, impaired glucose tolerance, multiple neuropathy, subclinical hypothyroidism.After supplement of potassium, the patient's muscle strength and ECG restored to normal.Conclusion ATS can have variable phenotypes except for typical triad.