家族性周期性麻痹8例报告和文献复习

目的报告8例儿童家族性周期性麻痹(FPP)病例,复习相关文献,以提高对其认识。方法回顾性总结8例FPP儿童的家系遗传特性、临床特征、辅助检查结果及治疗,分析其病因和诊断。结果6例为家族性低血钾型周期性麻痹,具有常染色体显性遗传的特征;发作时血清钾1.9~2.8 mmol/L,平均2.4 mmol/L;心电图出现U波等低血钾改变;其中1例血糖减低。另2例属于家族性正常血钾型周期性麻痹,也有常染色体显性遗传特性;发作时血清钾正常;1例血糖降低。8例甲状腺功能、肾功能和肌电图均正常。结论FPP为一组少见遗传性的骨髂肌离子通道病,根据家系遗传学特征、临床表现和相关辅助检查可确诊。     

低钾型周期性瘫痪

周期性瘫痪又称周期性麻痹(periodic paralysis)是以反复发作的骨骼肌迟缓性瘫痪为特征的一组少见疾病,发作时大都伴有血清钾浓度的改变。根据血清钾离子浓度的变化可将周期性瘫痪分为低钾型、正常钾型和高钾型3种类型,其中以低钾型周期性瘫痪(hypokalemic periodic paral-ysis,hypoKPP)最为常见。近年来随着对离子通道结构和功能的了解,发现周期性瘫痪是由肌肉细胞膜离子通道基因突变所致的离子通道病(ion channel disease)。周期性瘫痪的原发性缺陷并不是血清钾浓度的改变,而是钾代谢障碍所致。周期性瘫痪进一步被分为原发性和继发性,本…     

Hypokalemic rhabdomyolysis in a child with 11-hydroxylase deficiency

Myopathy is a well-recognized complication of persistent hypokalemia. Although hypokalemic myopathy may be due to divers diseases or to drug administration, hypokalemic rhabdomyolysis as a complication of under-treated 11-hydroxylase deficiency has not previously been described in the literature. We describe a 10-year-old boy with under-treated 11-hydroxylase deficiency who developed rhabdomyolysis following severe hypokalemia. Patients with under-treated 11-hydroxylase deficiency may present with hypokalemia in association with muscle weakness; if serum potassium is markedly low, rhabdomyolysis may occur. Hypokalemia-induced rhabdomyolysis should be carefully followed.     

高IgD综合征及TNF-1受体相关性周期热综合征

高IgD综合征及肿瘤坏死因子 1受体相关性周期热综合征均属于遗传性周期热 ,同时又是自身炎性疾病 ,表现为既非感染性又非自身免疫性的周期性急性炎症。近 10～ 2 0年来已在世界各地包括近邻日本都有报道。该文介绍了这两种病的流行病学、临床、实验室检查、遗传学、发病机制、治疗和预后等方面的特点 ,旨在呼吁儿科界关注此两种病在我国是否也存在。     

Hypokalemic periodic paralysis: two case reports

We report two cases of hypokalemic periodic paralysis in children presenting to the emergency department with diffuse weakness and no antecedent history of neurologic disease. The literature is briefly reviewed. Any child with acute weakness and normal mental status should undergo serum potassium determination to allow prompt diagnosis and therapy.     

Hypokalemic periodic paralysis and distal renal tubular acidosis associated with renal morphological changes

We report an unusual case of 5-yrs-old girl presenting with recurrent episodic weakness with documented hypokalemia, polyuria and failure to thrive. The child was finally diagnosed as having distal renal tubular acidosis. Imaging studies revealed associated hypoechoic spaces in renal medulla. Long term treatment with alkali and maintenance of normokalemia lead to regression of these morphological changes.     

原发肾小管性低钾碱中毒的临床特点

目的 探讨原发肾小管性低钾碱中毒的临床特点.方法 收集在天津市儿童医院住院治疗的原发肾小管性低钾碱中毒患儿8例,其中Bartter综合征(BS)、Gitelman综合征(GS)各4例.回顾性分析其临床表现、实验室检查、治疗方法及转归情况.结果 4例BS均婴幼儿期起病,临床表现为间断呕吐、腹泻、脱水、生长发育迟缓.4例GS发病年龄为10～15岁,临床表现为肢体无力、四肢麻木及间断手足搐搦.8例患儿血压均正常.实验室检查均表现为低血钾、代谢性碱中毒、尿钾、尿氯排出增加;4例BS息儿血浆肾素、血管紧张素、醛固酮明显升高;4例GS患儿血管紧张素均升高,血浆肾素升高3例、醛固酮明显升高2例;BS患儿尿钙肌酐比>0.2,GS患儿伴低血镁、尿钙肌酐比<0.2.2例BS患儿B超示双肾回声均匀增强,其中1例左肾盂扩张.单纯补钾或联合补镁、吲哚美辛、螺内酯和卡托普利后症状缓解.结论 原发肾小管性低钾碱中毒主要表现为低血钾、代谢性碱中毒、血压正常.检查其血镁、尿钾、尿氯、尿钙肌酐比和血浆肾素、血管紧张素、醛固酮水平可帮助诊断.BS和GS的发病机制、临床表现、治疗及预后均有不同.     

Approach to a Child with Acute Flaccid Paralysis

Acute flaccid paralysis (AFP) is a clinical syndrome characterized by rapid onset weakness, that many times includes respiratory and bulbar weakness. AFP is a broad clinical entity with an array of diagnostic possibilities. An accurate and early diagnosis of the cause has important bearing on the management and prognosis. The immediate priorities in a child who presents with acute progressive weakness are; to detect and manage respiratory muscle weakness, to detect and manage bulbar weakness, evaluate for cardiovascular instability, detect and manage dyselectrolytemia or toxemia, and to detect and manage a spinal compression (traumatic, intraspinal collections). Urgent imaging of the spine is needed in settings where a spinal cord involvement is suspected. Compressive or traumatic spinal lesions may need early neurosurgical intervention. Anterior horn cell injury is usually due to direct viral infection. More distal pathologies are generally immune mediated and respond to immunomodulation. Irrespective of the cause, generalized weakness frequently affects respiratory and bulbar function. Such children need careful monitoring and respiratory support.     

Hypokalemic paralysis in association with acute gastroenteritis: A report of a sporadic case

Abstract Hypokalemic periodic paralysis is a condition, characterized by episodic weakness of the skeletal muscle. It may be presented as familial or sporadic (secondary). In sporadic cases, the patient may present with paralysis without any previous self or familial history. It is known that these patients are more susceptible to hypokalemia than normal individuals. In low serum K⁺ concentrations that the normal population can tolerate, these patients may easily suffer from paralysis. A sporadic case of hypokalemic quadriparesis associated with acute gastroenteritis without any self or family history is reported. The patient had experienced two episodes of quadriparesis within a short interval and responded dramatically to potassium replacement therapy.     

Hypokalemic rhabdomyolysis in a child due to amphotericin B therapy

Hypokalemia can result in life-threatening complications if not treated appropriately. Although hypokalemia is a frequent adverse effect of amphotericin B therapy, there are no reports in the pediatric literature on hypokalemia-associated rhabdomyolysis induced by this drug. A ten-year-old boy with a history of one week amphotericin B treatment was admitted with weakness of the lower extremities, inability to walk and calf pain. Laboratory tests showed a serum potassium of 1.7 mEq/L and a serum creatinine phosphokinase of 3937 U/L plus myoglobulinuria. Following fluid expansion and intravenous potassium replacement, the patient progressed to achieve full regression of muscular weakness after one week. This report highlights hypokalemia as a rare cause of rhabdomyolysis. Patients on amphotericin B should be checked for this rare yet potentially life-threatening complication.     

病毒性脑炎并横纹肌溶解症

病毒性脑炎是指由多种病毒感染造成脑实质病变,并引起一系列临床表现的感染性疾病,儿科较常见.横纹肌溶解症是由于骨骼肌破坏导致细胞内容物释放入血和从尿排出的综合征,其特征为血清肌酸磷酸激酶升高、血清肌红蛋白升高及肌红蛋白尿,常继发急性肾衰竭.国内外研究报道多种病毒性脑炎患儿可并横纹肌溶解症,且并不是很罕见,应引起临床医师的高度重视,特别是对于那些病程中出现血尿的病毒性脑炎患儿,应及早进行血清肌酸磷酸激酶、血和尿肌红蛋白的检测,以明确是否有横纹肌溶解症的可能.一旦诊断明确后,应及时进行水化、碱化等治疗,以避免急性肾衰竭的发生,从而改善患儿的预后.现就病毒性脑炎并横纹肌溶解症进行综述.