FAMILIAL HYPOKALEMIC PERIODIC PARALYSIS - CLINICAL, DIAGNOSTIC AND THERAPEUTIC ASPECTS
FAMILIAL HYPOKALEMIC PERIODIC PARALYSIS - CLINICAL, DIAGNOSTIC AND THERAPEUTIC ASPECTS
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DOI：
10.1016/0022-510x(94)90049-3
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发表时间：
1994-03-01
影响因子：
4.4
通讯作者：
OOSTERHUIS, HJGH
中科院分区：
文献类型：
--
作者：
LINKS, TP;SMIT, AJ;OOSTERHUIS, HJGH
对一个低钾型周期性麻痹（HOPP）家系的五代人进行了研究。在120名接受筛查的家庭成员中，64人被发现患有HOPP，其中38人遭受攻击。在其他26例中，诊断是由于空泡性肌病，肌纤维传导速度降低或永久性肌无力（PMW）的迹象与（大）儿童发作相结合。应用这些标准跳过世代没有发生在这个家庭。当正确定义时，在所有老年患者中发现PMW，与先前发生的麻痹发作无关。肌力测定和肌肉CT扫描对PMW的诊断和病情进展有重要价值。2例患者进行了尸检。横纹肌组织不同程度出现特征性空泡化。心脏和平滑肌组织未受累。治疗有限。钾盐缩短和预防麻痹发作耐受良好。乙酰唑胺在预防麻痹发作方面更有效，但耐受性不是很好。HOPP可以被认为是一种肌病，其特征是所有患者在老年时的PMW，超过一半的患者合并麻痹发作。
Five generations of a family with hypokalemic periodic paralysis (HOPP) were studied. Of the 120 screened family members, 64 were found to have HOPP of which 38 were suffering from attacks. In the other 26 the diagnosis was made on account of vacuolar myopathy, a reduced muscle fiber conduction velocity or the signs of permanent muscle weakness (PMW) in combination with (grand)children with attacks. Applying these criteria skipping of generations did not occur in this family. When defined properly, PMW was found in all patients at older age, independent of the previous occurrence of paralytic attacks. Dynamometry and muscle CT-scanning appeared valuable in the diagnosis and the progression of PMW. In 2 patients autopsy was performed. Characteristic vacuolization was found in the striated muscle tissue in various degrees. Heart and smooth muscle tissue were not involved. Therapy is limited. Potassium salts shortening and preventing the paralytic attacks are tolerated well. Acetazolamide is more effective in the prevention of the paralytic attacks, but is not tolerated very well. HOPP can be considered as a myopathy characterized by PMW at older age in all patients, combined with paralytic attacks in more than half the patients.