• 대한한의학회지
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• 제21권2호
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• pp.87-94
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• 2000

Hypokalemic periodic paralysis(HypoPP) is characterized by an abrupt onset of flaccid paralysis with a clear mentality, but muscles of speech and swallowing are usually spared. We report on three patients who suffered attacks of acute paralysis. After exclusion of central nervous system involvement, the patients showing hypokalemia was diagnosed as hypokalemic periodic paralysis, which was completely reversible on parenteral potassium substitution.

• 혜화의학회지
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• 제17권1호
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• pp.105-112
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• 2008

Objective : This is the clinical report about the Wei symptom patient diagnosed as Hypokalemic periodic Paralysis. Methods and Results : Three Wei symtom patients diagnosed Hypokalemic Periodic Paralysisat at Cheonan oriental medical hospital were treated with Oriental-Western therapies. Conclusion : Hypokalemic Periodic Paralysis is regarded as wei symtom in Oriental Medicine. The treatment of Hypokalemic Periodic Paralysis regarded as wei symtom of Oriental Medicine had favorable effect. Parallel treatment showed favorable effect on other symptoms caused by Hypokalemic Periodic Paralysis such as nausea, chest discomfort, leg pain besides main symptoms such as weakness and numbness.

• 대한한의학회지
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• 제25권4호
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• pp.226-234
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• 2004

Objective : The thyrotoxic periodic paralysis mainly appears in case of hyperthyroidism and the amyotonia is the characteristic main symptom. Through the deteriorated case and treatment by oriental medicine, the purpose of this research is to study the change of symptoms and the treatment effect for one case of a thyrotoxic periodic paralysis patient, Methods and Results : The treatment was carried out with oriental medicine as a main treatment and by the oriental medicinally deteriorated case, acupuncture treatment, moxibustion treatment and herbal medicine treatment were used as the main treatment methods. Also based on the symptoms which could appear with hyperthyroidism, the changes of symptoms were evaluated once a day with 4 levels of subjective scales that the patient was feeling, by dividing with 4 aspects of totalis symptoms, cardiovascular symptoms, musculoskeletal symptoms and other symptoms. In addition, it was shown that through the continuous hematologic test, the subjective and objective symptoms were mostly decreased during the treatment periods by comparing with the objective thyroid hormone (T3, T4, TSH) levels and the electrolyte levels. Conclusion : With this result, it was considered that oriental medicinal treatment was very effective for the thyrotoxic periodic paralysis through the oriental medicinally deteriorated case.

• Clinical and Experimental Pediatrics
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• 제53권10호
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• pp.909-912
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• 2010

Familial hypokalemic periodic paralysis is an autosomal-dominant channelopathy characterized by episodic muscle weakness with hypokalemia. The respiratory and cardiac muscles typically remain unaffected, but we report an atypical case of a family with hypokalemic periodic paralysis in which the affected members presented with frequent respiratory insufficiency during severe attacks. Molecular analysis revealed a heterozygous c.664 C>T transition in the sodium channel gene $SCN4A$, leading to an Arg222Trp mutation in the channel protein. The patients described here presented unusual clinical characteristics that included a severe respiratory phenotype, an incomplete penetrance in female carriers, and a different response to medications.

• Clinical and Experimental Pediatrics
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• 제54권11호
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• pp.473-476
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• 2011

Primary hypokalemic periodic paralysis (HOKPP) is an autosomal dominant disorder manifesting as recurrent periodic flaccid paralysis and concomitant hypokalemia. HOKPP is divided into type 1 and type 2 based on the causative gene. Although 2 different ion channels have been identified as the molecular genetic cause of HOKPP, the clinical manifestations between the 2 groups are similar. We report the cases of 2 patients with HOKPP who both presented with typical clinical manifestations, but with mutations in 2 different genes ($CACNA1S$ p.Arg528His and $SCN4A$ p.Arg672His). Despite the similar clinical manifestations, there were differences in the response to acetazolamide treatment between certain genotypes of $SCN4A$ mutations and $CACNA1S$ mutations. We identified p.Arg672His in the $SCN4A$ gene of patient 2 immediately after the first attack through a molecular genetic testing strategy. Molecular genetic diagnosis is important for genetic counseling and selecting preventive treatment.

• Journal of Yeungnam Medical Science
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• 제16권2호
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• pp.228-236
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• 1999

저자들은 한국인 갑상선 기능 항진증에 동반된 주기성마비의 임상적 특정을 알아보고자 1986년 3월부터 1996년 3월까지 영남대학교 의과대학 부속 병원 내과에 내원하여 갑상선기능 항진증을 진단받은 환자 997명 중 주기성마비를 보였던 19명을 관찰하여 다음과 같은 결과를 얻었다. 대상환자 997명 중 남자는 296명, 여자는 701명이었고, 이들 중 주기성마비는 19명에서 발생하여 빈도는 1.9%이었다. 성별분포는 남자에서 6%(18/296), 여자에서는 0.2%(1/701)의 발생률을 보였다. 또한 마비가 시작된 연령은 19 - 55세로서 평균 35세이었다. 마비는 주로 하지(14/19, 73.6%)에 일어났고, 상하지 모두에서 발생한 경우도 3명(15.7%)이었으나, 상지만 발생된 경우는 없었다. 그리고 원위부보다 근위부에 더 심한 마비를 보였다. 총 19명의 대상환자들 중 6명(38.5%)의 환자에서는 선행 유발요인을 찾을 수 없었으나 나머지 환자들에서는 과식(5/19, 26.3%), 음주(3/19, 15.7%), 육체적 과로(4/19, 21%), 감염(1/19, 5.2%) 등이 유발요인으로 작용하였다. 19명의 환자의 마비발작시 혈중 칼륨 수치는 1.5-6.1(평균 $3.2{\pm}1.2$ mEq/L)으로 다양하게 나타났다. 환자들은 칼륨투여와 동시에 모두 PTU와 베타차단제로 치료받았으며, 갑상선 기능이 정상화되면서부터 재발한 환자는 2명이었고, 나머지 17명에서는 정상 갑상선 기능하에서 마비가 생기지 않았다. 이상에서 갑상선 기능항진증 환자에서 발생하는 주기성마비는 갑상선 기능항진증에 의해서 유발되는 것이 확실하나, 정상 갑상선기능하에서도 주기성 마비가 재발하고, 갑상선 기능항진증의 2% 정도에서만 주기성 마비가 발생한다는 것은 근세포막전위를 유지하는 생화학적 경로 이상 이외에 유전적 감수성 등과 같은 다른 기전들도 갑상선 중독성 주기성마비에 관여할 것으로 생각된다. 또한, 마비발작이 어떻게 시작되는지, 마비발작은 어떠한 기전으로 저절로 호전이 되는지, 왜 젊은 아시아인에서 많이 발생하는지에 대해서는 알려진 바가 없어, 향후 이에 대해서도 많은 연구가 필요할 것으로 생각된다.

• Annals of Clinical Neurophysiology
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• 제10권2호
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• pp.119-122
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• 2008

Thyrotoxic periodic paralysis (PP) is the most common acquired form of PP in Asian populations, and its cardinal and biochemical abnormality is hypokalemia. We describe a 39-year-old man who had acute bilateral limb motor weakness and paresthesia, and showed normokalemia during attack. Thyroid studies showed subclinical thyrotoxic Goiter. Control of the hyperthyroidism nearly eliminated his PP. Regardless of normokalemia, our patient might be a case of hypokalemic PP because of improvement from anti-thyroid medication.

• Clinical and Experimental Pediatrics
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• 제54권11호
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• pp.470-472
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• 2011

Familial hyperkalemic periodic paralysis (HYPP) is an autosomal-dominant channelopathy characterized by transient and recurrent episodes of paralysis with concomitant hyperkalemia. Mutations in the skeletal muscle voltage-gated sodium channel gene $SCN4A$ have been reported to be responsible for this disease. Here, we report the case of a 16-year-old girl with HYPP whose mutational analysis revealed a heterozygous c.2111C>T substitution in the $SCN4A$ gene leading to a Thr704Met mutation in the protein sequence. The parents were clinically unaffected and did not have a mutation in the $SCN4A$ gene. A $de$ $novo$ $SCN4A$ mutation for familial HYPP has not previously been reported. The patient did not respond to acetazolamide, but showed a marked improvement in paralytic symptoms upon treatment with hydrochlorothiazide. The findings in this case indicate that a $de$ $novo$ mutation needs to be considered when an isolated family member is found to have a HYPP phenotype.

• Annals of Clinical Neurophysiology
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• 제17권2호
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• pp.98-100
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• 2015

• Childhood Kidney Diseases
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• 제8권1호
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• pp.63-67
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• 2004

저자들은 생후 2개월에 신석회화증, 원위 신세뇨관성 산증을 진단받고 지속적인 외래 추적 관찰을 하고 있는 여아에서 급성 저칼륨혈증 주기성 마비를 진단하였기에 문헌 고찰과 함께 보고하는 바이다.