低钾周期性麻痹发病机制的研究进展_West China Medical Journal

Authors：

 杨惠岚 ,  安振梅

四川大学华西医院内分泌代谢科（成都，610041）;

Corresponding author：

安振梅, Email: anzm1997@sina.Com

Keywords：

低钾周期性麻痹; 低钾血症; 甲亢性低钾周期性麻痹; 离子通道疾病

DOI：

10.7507/1002-0179.20140239

Video：

Export PDF Favorites Scan Get Citation

Abstract Full text Figures/Tables Video References Cited by

低钾周期性麻痹（HypoPP）是一组以反复发作的骨骼肌弛缓性瘫痪伴低血钾为特征的疾病，严重者可以引发呼吸肌麻痹，恶性心律失常甚至死亡。目前HypoPP的诊断以临床诊断为主，对该病早期的筛查和诊断尤显重要。研究表明原发性HypoPP与遗传相关，已明确CACNA1S和SCN4A两个相关基因，同样，对甲亢性HypoPP研究认为，它是由遗传易感性、甲状腺毒症和环境因素三者共同作用引起的内分泌性通道疾病。对HypoPP的基因研究不仅丰富该病的基因库，还能早期对可疑基因进行重点筛查，早期识别易感人群，积极避免疾病严重后果发生。现对HypoPP发病机制进行综述，以期为临床工作中对HypoPP的早期筛查和诊断提供参考依据。

Citation： 杨惠岚, 安振梅. 低钾周期性麻痹发病机制的研究进展. West China Medical Journal, 2014, 29(4): 788-790. doi: 10.7507/1002-0179.20140239 Copy

1.	Tricarico D, Camerino DC. Recent advances in the pathogenesis and drug action in periodic paralyses and related channelopathies[J]. Front Pharmacol, 2011, 2(8):8.
2.	Thompson MP, Pinckard JK. A rare case of thyrotoxic periodic paralysis presenting to the medical examiner[J]. Am J Forensic Med Pathol, 2011, 32(3):232-235.
3.	Abbasi B, Sharif Z, Sprabery LR. Hypokalemic thyrotoxic periodic paralysis with thyrotoxic psychosis and hypercapnic respiratory failure[J]. Am J Med Sci, 2010, 340(2):147-153.
4.	Wang W, Jiang L, Ye L, et al. Mutation screening in Chinese hypokalemic periodic paralysis patients[J]. Mol Genet Metab, 2006, 87(4):359-363.
5.	Maciel RM, Lindsey SC, Dias da Silva MR. Novel etiopathophysiological aspects of thyrotoxic periodic paralysis[J]. Nat Rev Endocrinol, 2011, 7(11):657-667.
6.	Jurkat-Rott K, Weber MA, Fauler M, et al. K+-dependent paradoxical membrane depolarization and Na+ overload, major and reversible contributors to weakness by ion Channel leaks[J]. Proc Natl Acad Sci USA, 2009, 106(10):4036-4041.
7.	Matthews E, Labrum R, Sweeney MG, et al. Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis[J]. Neurology, 2009, 72(18):1544-1547.
8.	Wang Q, Liu M, Xu C, et al. Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a Chinese family[J]. J Mol Med, 2005, 83(3):203-208.
9.	Arhem P. Voltage sensing in ion channels:a 50-year-old mystery resolved?[J]. Lancet, 2004, 363(9416):1221-1223.
10.	Chabrier S, Monnier N, Lunardi J. Early onset of hypokalaemic periodic paralysis caused by a novel mutation of the CACNA1S gene[J]. J Med Genet, 2008, 45(10):686-688.
11.	翟金盛, 李卫巍, 安丽梅, 等. 低钾周期性麻痹家系CACNA1S基因突变的研究[J]. 医学研究生学报, 2012, 25(5):489-492.
12.	Li FF, Li QQ, Tan ZX, et al. A novel mutation in CACNA1S gene associated with hypokalemic periodic paralysis which has a gender difference in the penetrance[J]. J Mol Neurosci, 2012, 46(2):378-383.
13.	Sung CC, Cheng CJ, Lo YF, et al. Genotype and phenotype analysis of patients with sporadic periodic paralysis[J]. Am J Med Sci, 2012, 343(4):281-285.
14.	Matthews E, Hanna MG. Muscle channelopathies:does the predicted Channel gating pore offer new treatment insights for hypokalaemic periodic paralysis?[J]. J Physiol, 2010, 588(Pt 11):1879-1886.
15.	Park YH, Kim JB. An atypical phenotype of hypokalemic periodic paralysis caused by a mutation in the Sodium Channel gene SCN4A[J]. Korean J Pediatr, 2010, 53(10):909-912.
16.	Hong D, Luan X, Chen B, et al. Both hypokalaemic and normokalaemic periodic paralysis in different members of a single family with novel R1129Q mutation in SCN4A gene[J]. J Neurol Neurosurg Psychiatry, 2010, 81(6):703-704.
17.	Phakdeekitcharoen B, Phudhichareonrat S, Pookarnjanamorakot C, et al. Thyroid hormone increases mRNA and protein expression of Na+-K+-ATPase alpha2 and beta1 subunits in human skeletal muscles[J]. J Clin Endocrinol Metab, 2007, 92(1):353-358.
18.	Li W, Changsheng C, Jiangfang F, et al. Effects of sex steroid hormones, thyroid hormone levels, and insulin regulation on thyrotoxic periodic paralysis in Chinese men[J]. Endocrine, 2010, 38(3):386-390.
19.	Soonthornpun S, Setasuban W, Thamprasit A. Insulin resistance in subjects with a history of thyrotoxic periodic paralysis (TPP)[J]. Clin Endocrinol (Oxf), 2009, 70(5):794-797.
20.	Kung AW. Thyrotoxic periodic paralysis:a diagnostic challenge[J]. J Clin Endocrinol Metab, 2006, 91(7):2490-2495.
21.	Dias Da Silva MR, Cerutti JM, Arnaldi LA, et al. A mutation in the KCNE3 Potassium Channel gene is associated with susceptibility to thyrotoxic hypokalemic periodic paralysis[J]. J Clin Endocrinol Metab, 2002, 87(11):4881-4884.
22.	Tang NL, Chow CC, Ko GT, et al. No mutation in the KCNE3 Potassium Channel gene in Chinese thyrotoxic hypokalaemic periodic paralysis patients[J]. Clin Endocrinol (Oxf), 2004, 61(1):109-112.
23.	Kung AW, Lau KS, Fong GC, et al. Association of novel single nucleotide polymorphisms in the Calcium Channel alpha 1 subunit gene (Ca(v)1.1) and thyrotoxic periodic paralysis[J]. J Clin Endocrinol Metab, 2004, 89(3):1340-1345.
24.	Ryan DP, da Silva MR, Soong TW, et al. Mutations in Potassium Channel Kir2.6 cause susceptibility to thyrotoxic hypokalemic periodic paralysis[J]. Cell, 2010, 140(1):88-98.
25.	Cheng CJ, Lin SH, Lo YF, et al. Identification and functional characterization of Kir2.6 mutations associated with non-familial hypokalemic periodic paralysis[J]. J Biol Chem, 2011, 286(31):27425-27435.
26.	Jongjaroenprasert W, Phusantisampan T, Mahasirimongkol S, et al. A genome-wide association study identifies novel susceptibility genetic variation for thyrotoxic hypokalemic periodic paralysis[J]. J Hum Genet, 2012, 57(5):301-304.
27.	Cheung CL, Lau KS, Ho AY, et al. Genome-wide association study identifies a susceptibility locus for thyrotoxic periodic paralysis at 17q24.3[J]. Nat Genet, 2012, 44(9):1026-1029.

1. Tricarico D, Camerino DC. Recent advances in the pathogenesis and drug action in periodic paralyses and related channelopathies[J]. Front Pharmacol, 2011, 2(8):8.
2. Thompson MP, Pinckard JK. A rare case of thyrotoxic periodic paralysis presenting to the medical examiner[J]. Am J Forensic Med Pathol, 2011, 32(3):232-235.
3. Abbasi B, Sharif Z, Sprabery LR. Hypokalemic thyrotoxic periodic paralysis with thyrotoxic psychosis and hypercapnic respiratory failure[J]. Am J Med Sci, 2010, 340(2):147-153.
4. Wang W, Jiang L, Ye L, et al. Mutation screening in Chinese hypokalemic periodic paralysis patients[J]. Mol Genet Metab, 2006, 87(4):359-363.
5. Maciel RM, Lindsey SC, Dias da Silva MR. Novel etiopathophysiological aspects of thyrotoxic periodic paralysis[J]. Nat Rev Endocrinol, 2011, 7(11):657-667.
6. Jurkat-Rott K, Weber MA, Fauler M, et al. K+-dependent paradoxical membrane depolarization and Na+ overload, major and reversible contributors to weakness by ion Channel leaks[J]. Proc Natl Acad Sci USA, 2009, 106(10):4036-4041.
7. Matthews E, Labrum R, Sweeney MG, et al. Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis[J]. Neurology, 2009, 72(18):1544-1547.
8. Wang Q, Liu M, Xu C, et al. Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a Chinese family[J]. J Mol Med, 2005, 83(3):203-208.
9. Arhem P. Voltage sensing in ion channels:a 50-year-old mystery resolved?[J]. Lancet, 2004, 363(9416):1221-1223.
10. Chabrier S, Monnier N, Lunardi J. Early onset of hypokalaemic periodic paralysis caused by a novel mutation of the CACNA1S gene[J]. J Med Genet, 2008, 45(10):686-688.
11. 翟金盛, 李卫巍, 安丽梅, 等. 低钾周期性麻痹家系CACNA1S基因突变的研究[J]. 医学研究生学报, 2012, 25(5):489-492.
12. Li FF, Li QQ, Tan ZX, et al. A novel mutation in CACNA1S gene associated with hypokalemic periodic paralysis which has a gender difference in the penetrance[J]. J Mol Neurosci, 2012, 46(2):378-383.
13. Sung CC, Cheng CJ, Lo YF, et al. Genotype and phenotype analysis of patients with sporadic periodic paralysis[J]. Am J Med Sci, 2012, 343(4):281-285.
14. Matthews E, Hanna MG. Muscle channelopathies:does the predicted Channel gating pore offer new treatment insights for hypokalaemic periodic paralysis?[J]. J Physiol, 2010, 588(Pt 11):1879-1886.
15. Park YH, Kim JB. An atypical phenotype of hypokalemic periodic paralysis caused by a mutation in the Sodium Channel gene SCN4A[J]. Korean J Pediatr, 2010, 53(10):909-912.
16. Hong D, Luan X, Chen B, et al. Both hypokalaemic and normokalaemic periodic paralysis in different members of a single family with novel R1129Q mutation in SCN4A gene[J]. J Neurol Neurosurg Psychiatry, 2010, 81(6):703-704.
17. Phakdeekitcharoen B, Phudhichareonrat S, Pookarnjanamorakot C, et al. Thyroid hormone increases mRNA and protein expression of Na+-K+-ATPase alpha2 and beta1 subunits in human skeletal muscles[J]. J Clin Endocrinol Metab, 2007, 92(1):353-358.
18. Li W, Changsheng C, Jiangfang F, et al. Effects of sex steroid hormones, thyroid hormone levels, and insulin regulation on thyrotoxic periodic paralysis in Chinese men[J]. Endocrine, 2010, 38(3):386-390.
19. Soonthornpun S, Setasuban W, Thamprasit A. Insulin resistance in subjects with a history of thyrotoxic periodic paralysis (TPP)[J]. Clin Endocrinol (Oxf), 2009, 70(5):794-797.
20. Kung AW. Thyrotoxic periodic paralysis:a diagnostic challenge[J]. J Clin Endocrinol Metab, 2006, 91(7):2490-2495.
21. Dias Da Silva MR, Cerutti JM, Arnaldi LA, et al. A mutation in the KCNE3 Potassium Channel gene is associated with susceptibility to thyrotoxic hypokalemic periodic paralysis[J]. J Clin Endocrinol Metab, 2002, 87(11):4881-4884.
22. Tang NL, Chow CC, Ko GT, et al. No mutation in the KCNE3 Potassium Channel gene in Chinese thyrotoxic hypokalaemic periodic paralysis patients[J]. Clin Endocrinol (Oxf), 2004, 61(1):109-112.
23. Kung AW, Lau KS, Fong GC, et al. Association of novel single nucleotide polymorphisms in the Calcium Channel alpha 1 subunit gene (Ca(v)1.1) and thyrotoxic periodic paralysis[J]. J Clin Endocrinol Metab, 2004, 89(3):1340-1345.
24. Ryan DP, da Silva MR, Soong TW, et al. Mutations in Potassium Channel Kir2.6 cause susceptibility to thyrotoxic hypokalemic periodic paralysis[J]. Cell, 2010, 140(1):88-98.
25. Cheng CJ, Lin SH, Lo YF, et al. Identification and functional characterization of Kir2.6 mutations associated with non-familial hypokalemic periodic paralysis[J]. J Biol Chem, 2011, 286(31):27425-27435.
26. Jongjaroenprasert W, Phusantisampan T, Mahasirimongkol S, et al. A genome-wide association study identifies novel susceptibility genetic variation for thyrotoxic hypokalemic periodic paralysis[J]. J Hum Genet, 2012, 57(5):301-304.
27. Cheung CL, Lau KS, Ho AY, et al. Genome-wide association study identifies a susceptibility locus for thyrotoxic periodic paralysis at 17q24.3[J]. Nat Genet, 2012, 44(9):1026-1029.

Previous Article
组织工程双相支架修复关节软骨及软骨下骨缺损研究进展
Next Article
尿酸与神经变性疾病

West China Medical Journal

低钾周期性麻痹发病机制的研究进展

Abstract Full text Figures/Tables Video References Cited by

Previous Article

Next Article

Format

Content