Diagnosis and Treatment of Familial Hypokalemic Periodic Paralysis with Acidosis / 中山大学学报(医学科学版)

ObjectiveTo investigate the diagnosis and treatment of familial hypokalemic periodic paralysis with acidosis. MethodsThe proband's medical history， clinical manifestations， laboratory examinations and imaging characteristics were retrospectively analyzed， and prevalence situation of family members was investigated in detail. Next generation sequencing technology was used to detect the pathogenic gene loci related to periodic paralysis， and the relevant literatures were summarized. ResultsThe proband was definitely diagnosed as familial hypokalemic periodic paralysis. There was a heterozygous mutation in the SCN4A gene of the proband， which was c.2006G>A， resulting in amino acid changes R669H.The proband's grandfather， father and uncle shared the same variation. ConclusionsFamilial hypokalemic periodic paralysis with paroxysmal acidosis is rare， which is easily misdiagnosed as renal tubular acidosis. c 2006G>A mutation in SCN4A gene is the molecular basis of the disease in this family. The clinical phenotypes of different gene mutations are different， and gene screening is helpful for diagnosis and treatment.

Parálisis periódica tirotóxica hipopotasémica. Presentación de un caso

RESUMEN La parálisis periódica tirotóxica hipopotasémica es una entidad poco frecuente, con mayor prevalencia en el género masculino, y en la población asiática; caracterizada por debilidad muscular, asociada a hipopotasemia, y como una complicación del hipertiroidismo, generalmente secundario a enfermedad de Graves. El tratamiento se basa en la reposición del déficit de potasio, vigilancia cardiovascular, y manejo de la enfermedad de base, con restauración del eutiroidismo. Se presenta un paciente de 38 años de edad, con varios antecedentes patológicos personales, quien acudió por asistencia médica a causa de un cuadro clínico de 48 horas de evolución de tetraparesia, sin otra sintomatología.

ABSTRACT Hypokalemic thyrotoxic periodic paralysis is a rare entity, with a higher prevalence in males, and in the Asian population; characterized by muscle weakness, associated with hypokalaemia, and as a complication of hyperthyroidism, usually secondary to Graves' disease. Treatment is based on replacement of the potassium deficit, cardiovascular monitoring, and management of the underlying disease, with restoration of euthyroidism. A 38-years-old patient is presented, with several personal pathological antecedents, who came for medical assistance due to a 48-hour clinical picture of tetraparesis, with no other symptoms.

Mutation analysis of SCN4A gene in a family with hypokalemic periodic paralysis / 中国医师杂志

Objective:To analyze the clinical features and SCN4A gentic background of a family with hypokalemic periodic paralysis.Methods:Peripheral blood samples and clinical data were collected from the proband, his brother and parents, and genomic DNA was extracted from these blood samples. Genome-wide exome sequencing was conducted to determine the mutation site in the proband and then allele-specific oligonucleotide primers were designed based on the mutation site. Polymerase chain reaction (PCR) was performed to detect the mutation site to further identify the causative gene in the family.Results:The patient was a 19-years-old male, Han nationality. The patient presented with periodic paralysis while hypokalemia at the same time. His father and grandpa have a similar medical history in the family. A hybrid missense variation (p.R672H) was identified in exon 12 of SCN4A gene in the proband. The same mutation was also detect in the proband's father.Conclusions:The heterozygous missense variation of SCN4A gene (p.R672H) found in this study resulted in familial hypokalemic periodic paralysis. Our research provided reference for the future genetic counseling of this patient and enriched the research data on the relationship between genotype and clinical manifestations.

Parálisis periódica hipopotasémica. Presentación de un caso / Hypokalemic periodic paralysis. Presentation of a case

RESUMEN La parálisis periódica hipopotasémica generalmente es causada por mutaciones autosómicas dominantes en el gen del canal de calcio dependiente del voltaje; las crisis de debilidad, suelen persistir durante horas o días antes de resolverse gradualmente; el nivel de potasio sérico puede estar bajo o normal durante la crisis. Este trastorno puede presentarse de forma adquirida en afecciones como pérdidas digestivas de potasio, diuréticos depletantes de potasio, entre otras. Se describe el caso de un paciente de piel blanca, de 53 años de edad, que acudió a consulta por pérdida de la fuerza muscular en los cuatro miembros, y reflejos osteotendinosos conservados. En los complementarios solo llamó la atención los bajos valores de potasio sérico (1,99 mmol/L). La escasa frecuencia con que se presenta este trastorno, la forma de presentación en este paciente, y la probabilidad de confundirlo con otras enfermedades, motivaron la publicación del artículo.

ABSTRACT Hypokalemic periodic paralysis is generally caused by autosomal dominant mutations in the voltage-dependent calcium channel gene; seizures of weakness usually persist for hours or days before gradually resolving; the serum potassium level may be low or normal during the crisis. This disorder can present in an acquired way in conditions such as digestive losses of potassium, potassium-depleting diuretics, among others. The case of a 53-year-old white-skinned patient who came to the clinic due to loss of muscle strength in all four limbs, and preserved osteotendinous reflexes it is describe. In the tests, only the low serum potassium values (1.99 mmol / L) stand out. The rare frequency with which this disorder occurs, the form of presentation in this patient, and the probability of confusing it with other diseases, motivated the publication of the article.

Atypical clinical presentation of distal renal tubular acidosis: a case report registered in Amazonas, Brazil / Apresentação clínica atípica da acidose tubular renal distal: relato de caso registrado no Amazonas, Brasil

ABSTRACT We report an unusual case of a 24-year-old girl with a history of recurrent hypokalemic paralysis episodes and skin lesions on the lower limbs and buttocks, both of which had an acute evolution. In subsequent investigations, the patient also had nephrocalcinosis, nephrolithiasis, hyperchloremic metabolic acidosis and persistent alkaline urinary pH. The findings were consistent with distal renal tubular acidosis as the cause of hypokalemic paralysis. Clinical findings, immunological tests and the result of skin biopsy suggested primary Sjögren's syndrome as an underlying cause. The patient developed azotemia due to obstructive nephrolithiasis. All the features presented in this case are an unusual manifestation of distal renal tubular acidosis; so far, we are not aware of a similar report in the literature.

RESUMO Relatamos um caso incomum de uma jovem de 24 anos com história de episódios recorrentes de paralisia hipocalêmica e lesões cutâneas em membros inferiores e nádegas, ambas de evolução aguda. Em investigações subsequentes, verificou-se que a paciente apresentava nefrocalcinose, nefrolitíase, acidose metabólica hiperclorêmica e pH urinário persistentemente alcalino. Os achados foram consistentes com acidose tubular renal distal como causa da paralisia hipocalêmica. Achados clínicos, exames imunológicos e o resultado da biópsia de pele foram compatíveis com a síndrome de Sjögren primária como causa subjacente. A paciente evoluiu com azotemia em decorrência da nefrolitíase obstrutiva. Todas as características apresentadas nesse caso são uma manifestação incomum de acidose tubular renal distal; até o momento, não temos conhecimento de um relato semelhante na literatura.

Reconhecimento da paralisia periódica hipocalêmica tireotóxica na emergência: relato de caso e revisão da literatura / Recognizing thyrotoxic hypokalemic periodic paralysis on emergency settings: a case report and literature revie

A paralisia periódica hipocalêmica tireotóxica é uma complicação inusitada do hipertireoidismo, porém é considerada urgência endocrinológica e ainda frequentemente subdiagnosticada. Sua apresentação clínica consiste na tríade de défice de potássio, tireotoxicose e fraqueza muscular ­ sendo esse último sintoma comum em diversas patologias. Realizamos uma revisão bibliográfica e destacamos, por meio do relato de caso, a importância do diagnóstico precoce dessa doença, possibilitando uma evolução favorável ao paciente, independente de sua etnia, sexo ou região geográfica. Atentamos ainda ao tratamento da doença, que, apesar de sua simplicidade, acarreta muitos equívocos.

The thyrotoxic hypokalemic periodic paralysis is a rare complication of hyperthyroidism, but is considered an endocrinological urgency, and yet frequently underdiagnosed. Its clinical presentation consists of potassium deficit, thyrotoxicosis, and muscular weakness, with the latter symptom being very common in several pathologies. We performed a bibliographic review and highlight, through a case report, the importance of the early diagnosis of this disease to allow favorable progression to the patient, regardless of ethnicity, sex, or geographical region. We also reinforce the importance of the disease treatment which, despite its simplicity, leads to many mistakes.

Study of incidence and prevalence of hypokalemic periodic paralysis

Background: Hypokalemic periodic paralysis (HPP) is a rare autosomal dominant channelopathy characterised by muscle weakness or paralysis when there is a fall of potassium level in the blood. In individuals with mutation, attack begins during adolescents and most commonly occurs after sleep on awakening, rest after strenuous exercise, high carbohydrate diet and meal with high sodium content. This study was conducted to analyse the age of incidence and prevalence of HPP with various clinical presentations, diagnosis and its effective treatment.Methods: A retrospective analysis of 50 patients of Hypokalemic periodic paralysis was analysed in tertiary care centre “Rajendra institute of medical science” Ranchi, Jharkhand, India, with reference to its clinical presentation, age of incidence and prevalence with laboratory parameters and treatment outcomes.Results: Incidence of attack is more common in men between 26-35 years of age. Sudden onset of flaccid quadriparesis was the most common presentation with history of high carbohydrate diet on the background of strenuous work during summer season. Around 60% had similar history of attacks in the past and most of the patients had serum potassium levels between 2.1-3.0mEq/L. Electrocardiography (ECG) abnormalities associated with hypokalemia had been observed in 90% of patients, and also significant clinical, biochemical changes have been observed as well.Conclusions: Early diagnosis not only helps in definitive management with potassium replacement, but also prevents patient going for life threatening respiratory failure.  Patients recover completely without any clinical sequelae. Therefore, it is imperative for physicians, particularly those working in acute care settings, to be aware of this condition. Further management depends on the cause, frequency of attacks, severity of symptoms and the duration of the illness.

Acetazolamide-Induced Type II Renal Tubular Acidosis and Muscle Weakness

No abstract available.

Paramyotonia congenita and hypokalemic periodic paralysis in a family with mutation p.R1448H in α-subunit type Ⅳ of voltage gated sodium channel gene / 中华神经科杂志

Objective Through description of the clinical,electrophysiological,pathological and gene sequencing characteristics of a family diagnosed as paramyotonia congenita and hypokalemic periodic paralysis to broaden the understanding of skeletal muscle channel disease and provide the reference for clinical diagnosis.Methods The clinical manifestation,electromyography,muscle pathology and gene sequencing of a family diagnosed as paramyotonia congenita and hypokalemic periodic paralysis in the First Hospital of Shanxi Medical University in October 2017 were collected.Results The proband represented myotonia and episodic muscle weakness,and the manifestations of different patients of the family were varied,including myotonia,episodic muscle weakness or myotonia and episodic muscle weakness.The electromyography of the proband showed myotonic potential,and the compound muscle action potential decreased by 36％ in 40 minutes after exercise in the long exercise test in cold environment (11 ℃).The gene sequencing showed α-subunit type Ⅳ of voltage gated sodium channel (SCN4A) gene p.R1448H mutation.Conclusions The proband presented with paramyotonia congenita and hypokalemic periodic paralysis.Family clinical manifestations suggested phenotypic heterogeneity.The long exercise text in cold environment (11 ℃) confirmed the diagnosis of the proband as paramyotonia congenita and hypokalemic periodic paralysis.Family gene sequencing showed that the mutation of p.R1448H in SCN4A gene was the pathogenic gene mutation site of paramyotonia congenita and hypokalemic periodic paralysis.

Caso Clínico: Parálisis Periódica Hipopotasémica / Case Report: Hypokalemic Periodic Paralysis

INTRODUCCIÓN: La parálisis periódica hipopotasémica es una enfermedad poco frecuente. Se caracteriza por episodios de debilidad muscular o plejia, reversible con la normalización de los niveles de potasio. Al ser una entidad poco común, el reporte del presente caso será de utilidad para el diagnóstico diferencial de la debilidad muscular aguda. CASO CLÍNICO: Paciente masculino de 22 años de edad, que posterior a ejercicio físico extenuante e ingesta moderada de hidratos de carbono y alcohol, presenta debilidad muscular aguda de miembros superiores e inferiores. EVOLUCIÓN: Al ingreso se realizó el diagnóstico de polirradiculoneuropatía desmielinizante aguda, administrándose una dosis de inmunoglobulina humana. Sin embargo, una vez obtenidos los resultados de laboratorio, se evidenció un potasio sérico de 2.4 mEq/L. Se inició la reposición con cloruro potásico en infusión. El paciente fue valorado por neurología y genética, con base en la anamnesis, examen físico, laboratorios y cuadro clínico del paciente, se realizó el diagnóstico de parálisis periódica hipopotasémica. Paciente presentó una evolución favorable, recibiendo el alta al cuarto día de hospitalización. CONCLUSIONES: La parálisis periódica hipopotasémica es una entidad poco frecuente, raramente incluida en el diagnóstico diferencial de la debilidad muscular aguda. La identificación oportuna y la consejería apropiada son esenciales para la prevención de complicaciones potencialmente mortales para el paciente.

BACKGROUND: Hypokalemic periodic paralysis is a rare disease, characterized by episodes of limb muscle weakness, reversible with the normalization of potassium levels. Being a rare entity, this report will be useful for the differential diagnosis of acute muscle weakness. CASE REPORT: A 22-year-old male patient, who after strenuous physical activity and a moderate intake of carbohydrates and alcohol, presented acute muscle weakness of the upper and lower limbs. EVOLUTION: On admission, the patient was diagnosed of acute demyelinating polyradiculoneuropathy, administering a dose of human immunoglobulin. However, once the laboratory results were available, a serum potassium of 2.4 mEq/L was evidenced. The replacement was started with potassium chloride in infusion. The patient was evaluated by neurology and genetics. Based on the anamnesis, physical examination, laboratories and clinical picture of the patient, the diagnosis of hypokalemic periodic paralysis was made. Patient presented a favorable evolution, receiving discharge on the fourth day of hospitalization. CONCLUSIONS: Hypokalemic periodic paralysis is an uncommon disease, rarely included in the differential diagnosis of acute muscle weakness. Timely identification and appropriate counseling are essential for the prevention of life-threatening complications.

Persistent severe hypokalemia: Gitelman syndrome and differential diagnosis / Hipocalemia grave persistente: Síndrome de Gitelman e diagnósticos diferenciais

Abstract The main causes of hypokalemia are usually evident in the clinical history of patients, with previous episodes of vomiting, diarrhea or diuretic use. However, in some patients the cause of hypokalemia can become a challenge. In such cases, two major components of the investigation must be performed: assessment of urinary excretion potassium and the acid-base status. This article presents a case report of a patient with severe persistent hypokalemia, complementary laboratory tests indicated that's it was hypomagnesaemia and hypocalciuria associated with metabolic alkalosis, and increase of thyroid hormones. Thyrotoxic periodic paralysis was included in the differential diagnosis, but evolved into euthyroid state, persisting with severe hypokalemia, which led to be diagnosed as Gitelman syndrome.

Resumo As principais causas de hipocalemia normalmente são evidentes na história clínica dos pacientes em investigação etiológica, com episódios prévios de vômitos, diarréia ou uso de diuréticos. Entretanto, em alguns pacientes, a causa da hipocalemia pode se tornar um desafio. Em tais casos, dois principais componentes da investigação devem ser realizados: avaliação da excreção do potássio urinário e do "status" ácido-básico. Este artigo traz um relato de caso de uma paciente portadora de hipocalemia grave persistente, com investigação laboratorial complementar caracterizada por hipomagnesemia e hipocalciúria, associada à alcalose metabólica e elevação dos hormômios tireoideanos. A apresen- tação inicial do quadro incluiu paralisia periódica tireotóxica como um dos principais diagnósticos diferenciais, porém, a paciente evoluiu para um es- tado eutireoideo e persistiu com grave hipocalemia, sendo, por fim, realizado diagnóstico clínico de Síndrome de Gitelman.

Correlation analysis of the exercise test and hypokalemic periodic paralysis / 中国医师杂志

Objectve To explore the application of exercise test use in diagnosis of periodic paraly sis.Methods Forty five cases of hypokalemic periodic paralysis were collected,and 40 health persons as control group.Both groups were measured serum potassium,serum creatase and thyroid function tests.All of them were taken exercise test (ET) and observe 50 minutes,measured before and after the test to seek the changes of compound muscle action potentials (CMAP),and its decreased more than 33％ were considered abnormal.The application of exercise test use was analyzed in diagnosis of periodic paralysis.Results In patients with periodic paralysis,the incidence of ET positive was higher than the control subjects (80％ vs 3.3％,P ＜ 0.001).This trend was significant after 20 minutes,such as 30 min[(37.8 ± 13.2)％ vs (6.2±3.2)％,P＜0.01],40min [(40.3 ±17.6)％ vs (3.2±1.9)％,P＜0.01],50min [(45.26 ± 19.9) ％ vs (-5.1 ± 2.6) ％,P ＜ 0.01].Moreover,linear correlation analysis showed that the serum potassium had negative correlation with serum creatase (r =-0.483,P =0.024).ALL of symptoms improved after a week treatment,the ET positive rate was still higher in patients with periodic paralysis than the control subjects (80.0％ vs 71.1％,P =0.824).Conclusions Exercise test was one of the important objective basis in the diagnosis of low potassium type periodic paralysis,and was not affected by treatment and testing time.

Mutation (Thr704Met) of the SCN4A gene causes severe familial hypokalemic periodic paralysis / 中华神经科杂志

Objective To investigate the clinical features and pathogenic genes of a familial hypokalemic periodic paralysis ( HOKPP).Methods PCR amplification and DNA sequencing were used to screen candidate genes of the HOKPP family members (CACNA1S, SCN4A, KCNE3), and the clinical features were carefully analyzed at the same time.Results The sequencing analyses of the SCN4A gene in the proband identified three nucleotide sequence mutations, which influenced the amino acid sequence of the skeletal sodium channel.One of the mutations was identified as a C/T heterozygous pattern at the 2111th nucleotide position in exon 13, resulting in a change from Thr to Met at the 704th amino acid position of the sodium channel protein.All affected patients carried the Thr704Met mutation, whereas unaffected family members did not.Clinical symptoms in this family followed an autosomal dominant inheritance pattern.Muscles weakness, pain and hypokalemia in the period between attacks were seen in all patients.Paralytic symptoms occurred early, lasted longer and recurred frequently, while cold was the main predisposing factor.With the progress of the disease, patients represented persistent weakness and atrophy in proximal muscles.Conclusions Mutation (Thr704Met) in the SCN4A gene should be responsible for this family.This mutation causes severe HOKPP and progressive muscle atrophy.

Distribution of Occupations and Traditional Chinese Medical Syndromes of Hypokalemic Periodic Paralysis Patients in Foshan Area:An Analysis of 782 Cases / 广州中医药大学学报

Objective To investigate the distribution of occupations and traditional Chinese medical syndromes of the patients with hypokalemic periodic paralysis in Foshan area. Methods A multicenter retrospective investigation was carried out to analyze the characteristics of occupations and syndrome types of hypokalemic periodic paralysis in Foshan area, and the correlation of occupations with syndrome types was also explored. Results (1) The workers engaged in agriculture, forestry, animal-breeding and fishing, and the workers engaged in production & transportation were most likely to suffering from hypokalemic periodic paralysis, with the incidence being 36.8%, 34.7% respectively. (2) The damp-heat syndrome was the most commonly-seen syndrome type, accounting for 53.1%, and then followed by Qi deficiency syndrome (20.3%) and Qi-Yin deficiency syndrome(15.7%).(3) The syndromes of heavy manual labor workers such as agriculture, forestry, animal-breeding and fishing workers, production & transportation workers, and soldiers were characterized by damp-heat type, accounting for 62.5%, 69.4%, 47.0% respectively. Professionals & technicians were most likely to suffering from Qi-Yin deficiency syndrome, accounting for 44.4%; business service personnel were most likely to suffering from Qi-Yin deficiency syndrome (32.5%) and Qi deficiency syndrome (31.3%). The syndrome distribution of heavy manual labor workers differed from that of light manual labor workers and brain workers(P < 0.001). Conclusion The high-risk groups of hypokalemic periodic paralysis in Foshan area are the heavy manual labor workers who are manifested with the damp-heat syndrome. The dominated syndrome types of light manual labor workers and brain workers are Qi deficiency and Qi-Yin deficiency.

Evaluation of the CaV1 1-R528 H gene knock-in mouse model of thyrotoxic hypokalemic periodic paralysis / 中国实验动物学报

Objective To establish and evaluate the CaV1?1?R528H gene knock?in mouse model of thyrotoxic hy?pokalemic periodic paralysis. Methods Thirty?six 8?week?old male CaV1?1?R528H gene knock?in mice and thirty?six 8?week?old wild?type male C57BL/6J mice were used in this study. Using three?factor two?level 2 × 2 × 2 factorial design ( the three factors including mutation, thyroxine and insulin, and two levels were with or without) , the mice were divided into 8 groups. The thyroxine groups were intraperitoneally injected with levothyroxine in a dose of 350 μg/kg once per day for 12 consecutive days to produce thyrotoxicosis. The insulin groups were intraperitoneally injected with short?acting insulin in a dose of 0?8 U/kg after the last administration of levothyroxine, and the potassium levels of different groups were meas?ured and recorded before (0 min) and after insulin injection (30 min, 60 min). Results (1) Compared with the control group, the following phenomena including irritability, dull coat, increased diet and water intake, and slow body weight gain, were observed in the thyrotoxic mice. Thyroid function tests showed that the levels of T3 and T4 in the thyrotoxic mice were significantly higher than those in the corresponding control mice (P<0?05), and the TSH level was significantly low?er than that of the corresponding control mice (P<0?05 ). (2) After administration of insulin or thyroxine alone, the po?tassium levels in the mutant and wild?type mice were not significantly different. However, after combined administration of thyroxine and insulin, the potassium levels in the mutant group were significantly lower than those in the wild?type mice at 30 min and 60 min ( P<0?05 for both). (3) The main effects and interactions:Mutation factor or thyroxine factor alone did not influence on the potassium level, only insulin showed hypokalemic effect (P<0?05). There were interactions be?tween thyroxine and mutation, and between insulin and mutation (P<0?05), but no interaction between thyroxine and in?sulin. Conclusions (1) A thyrotoxicosis state in mice is successfully developed in this study. (2) An CaV1?1?R528H gene knock?in mouse model of thyrotoxic hypokalemic periodic paralysis is successfully established.

Paralisia periódica hipocalêmica tireotóxica: relato de caso / Thyrotoxic hypokalemic periodic paralysis: a case report

Relata-se neste artigo o caso de um paciente de ascendência negra com quadro agudo e progressivo de paralisia flácida ascendente, sem comprometimento de musculatura respiratória ou facial, em vigência de hipertireoidismo em tratamento e hipocalemia desencadeados por quadro infeccioso. Foi realizado o diagnóstico de paralisia periódica hipocalêmica tireotóxica e controle inicial dos sintomas por adequação sérica do potássio e posterior resolução do quadro após tratamento com iodoterapia.

It is reported in this paper the case of a black ancestry patient with acute and progressive framework ascending flaccid paralysis without impairment of respiratory and facial muscles, in effect in treatment of hyperthyroidism and hypokalemia triggered by infection. The diagnosis of thyrotoxic hypokalemic periodic paralysis was accomplished and initial symptoms were controlled for adequacy of serum potassium and subsequent resolution after treatment with radioiodine.

A Case Report of Thyrotoxic Periodic Paralysis; Serial Nerve Conduction Studies before and after Recovery / 대한임상신경생리학회지

No abstract available.

The association between Graves disease with hypokalemic periodic paralysis or thymus hyperplasia / 中国综合临床

Objective To explore the relationship between Graves disease and hypokalemic periodic paralysis or thymus hyperplasia.Methods Sixty-two patients with Graves disease were enrolled in this study.Thirty-three patients without thymus hyperplasia were selected as group A and other 29 patients were group B.In addition,30 healthy volunteers served as control group.Results There were no significant difference between group A and group B in terms of sex,age,illness course,thyroid enlargement,exophthalmos,periodic paralysis and the levels of free triiodothyronine (FT3),free thyroxin (FT4),thyroid stimulating hormone (TSH) (P ＞ 0.05).The incidence rate of hypokalemic periodic paralysis in male Graves disease with thymus hyperplasia was 62％ (8/13),higher than that in female patients (6％ (1/16),x2 =10.24,P ＜ 0.05).The incidence rate of hypokalemic periodic paralysis in male Graves patients was 62％ (16/26),higher than in female Graves patients (6％ (2/36),x2 =22.96,P ＜ 0.05).There was no significant relationship between Graves disease patients combined with thymus hyperplasia and sex,age,illness course,thyroid enlargement,exophthalmos,periodic paralysis and the levels of FY3,FT4,TSH.Conclusion The incidence rate of hypokalemic periodic paralysis in male Graves disease patients combind with thymus hyperplasia is higher than in female,and therefore it should pay more attention of male Graves patients in case misdiagnosis.

Construction of Cchl1 a3 gene R528 H knock-in mouse model related to hypokalemic periodic paralysis / 中国比较医学杂志

Objective To construct Cchl1a3 gene R528H knock-in mouse model related to hypokalemic periodic paralysis.Methods ES cells were transfected with Cchl1a3-Konckin targeting vector linearized by Not I digestion , selected in the medium containing both G 418 and ganciclovoir .Resistant clones were screened by PCR and further confirmed by DNA sequencing for correct homologous recombinants .Chimera mice were obtained by routing microinjection of homologous recombined ES cells into blastocysts .Heterozygous mice were obtained by mating .Through heterozygous mice with FLP mice mating , removal of neo gene heterozygous mice were established and identified with the PCR and DNA sequencing . After mating, homozygous offspring were constructed and observed .Results ES cells were successfully transfected withtargeting vector .It was confirmed that 9 resistant clones happened right homologous recombination by PCR and DNA sequencing .7 chimera mice were obtained by microinjection .After breeding the chimeric mice , heterozygous mice were mated FLP mice to obtain 9 heterozygous mice removal of neo gene, the finally obtained 15 homozygous mice with Flp-deleted neo gene.In the developmental stage of sexual maturity , the spirit of the mice, restaurants and activities in good condition, but the gradual emergence of hair removal at 4 months of age, skin ulceration and even death .Conclusions We successfully constructed Cchl1a3 gene R528H mutation homozygous mice.And it laid a foundation for the study of human CACNA1S gene function and to clarify the molecular mechanism of hypokalemic periodic paralysis .