与牙周相关的糖原贮积病Ⅰb型研究进展
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摘要
文章就与牙周相关的糖原贮积病研究进展做一介绍,即糖原贮积病Ⅰb型的发病机制、口腔与全身临床表现、诊断、临床管理及口腔管理,以期为口腔临床医生提供相关罕见疾病的诊疗思路。
This article mainly introduces the pathogenesis,oral and systemic clinical manifestations,diagnosis,clinical and oral management of glycogen storage disease Ⅰb,in order to provide clinical philosophy of relevant diseases for dentists.
This article mainly introduces the pathogenesis,oral and systemic clinical manifestations,diagnosis,clinical and oral management of glycogen storage disease Ⅰb,in order to provide clinical philosophy of relevant diseases for dentists.
引文
[1]梁翠丽.糖原累积病Ⅰ型基因突变分析与临床关系研究[D].广州:广州医科大学,2013.
[2]袁裕衡,刘妍,邱正庆.3例糖原累积症Ⅰb型SLC37A4基因分析[J].临床儿科杂志,2017,35(3):179-182.
[3]Chou JY,Matern D,Mansfield BC,et al.TypeⅠglycogen storage diseases:disorders of the glucose-6-phosphatase complex[J].Curr Mol Med,2002,2(2):121-143.
[4]Chou JY,Jun HS,Mansfield BC.Neutropenia in typeⅠb glycogen storage disease[J].Curr Opin Hematol,2010,17(1):36-42.
[5]Boztug K,Appaswamy G,Ashikov A,et al.A syndrome with congenital neutropenia and mutations in G6PC3[J].N Engl J Med,2009,360(1):32-43.
[6]Bartoli A,BossùM,Sfasciotti G,et al.Glycogen storage disease typeⅠb:a paediatric case report[J].Eur J Paediatr Dent,2006,7(4):192-198.
[7]Ma R,Moein Vaziri F,Sabino G,et al.Glycogen storage diseaseⅠb and severe periodontal destruction:a case report[J].Dent J(Basel),2018,6(4):E53.
[8]Duplan MB,Hubert A,Norcy EL,et al.Dental and periodontal manifestations of glycogen storage diseases:a case series of 60patients[J].J Inherit Metab Dis,2018,41(6):947-953.
[9]Cheung YY,Kim SY,Yiu WH,et al.Impaired neutrophil activity and increased susceptibility to bacterial infection in mice lacking glucose-6-phosphatase-beta[J].J Clin Invest,2007,117(3):784-793.
[10]Kim SY,Jun HS,Mead PA,et al.Neutrophil stress and apoptosis underlie myeloid dysfunction in glycogen storage disease typeⅠb[J].Blood,2008,111(12):5704-5711.
[11]Kishnani PS,Austin SL,Abdenur JE,et al.Diagnosis and management of glycogen storage disease typeⅠ:a practice guideline of the American College of Medical Genetics and Genomics[J].GenetMed,2014,16(11):e1.
[12]Angaroni CJ,Labrune P,Petit F,et al.Glycogen storage disease typeⅠb without neutropenia generated by a novel splice-site mutation in the glucose-6-phosphate translocase gene[J].Mol Genet Metab,2006,88(1):96-99.
[13]邱正庆,卢超霞,王薇,等.糖原累积症Ⅰb型15家系SLC37A4基因分析研究[J].中华儿科杂志,2011,49(3):203-208.
[14]Bhattacharya K,Orton RC,Qi X,et al.A novel starch for the treatment of glycogen storage diseases[J].J Inherit Metab Dis,2007,30(3):350-357.
[15]Maheshwari A,Rankin R,Segev DL,et al.Outcomes of liver transplantation for glycogen storage disease:a matched-control study and a review of literature[J].Clin Transplant,2012,26(3):432-436.
[16]Martens DH,Rake JP,Navis G,et al.Renal function in glycogen storage disease typeⅠ,natural course,and renopreservative effects of ACE inhibition[J].Clin J Am Soc Nephrol,2009,4(11):1741-1746.
[17]Li AM,Thyagu S,Maze D,et al.Prolonged granulocyte colony stimulating factor use in glycogen storage disease type 1b associated with acute myeloid leukemia and with shortened telomere length[J].Pediatr Hematol Oncol,2018,35(1):45-51.
[18]Mortellaro C,Garagiola U,Carbone V,et al.Unusual oral manifestations and evolution in glycogen storage disease typeⅠb[J].J Craniofac Surg,2005,16(1):45-52.
[19]Kawai T.Anesthetic management for an emergency operation in a patient with von Gierke disease[J].Masui,2005,54(8):924-925.
[20]Giannitrapani L,Soresi M,La SE,et al.Sex hormones and risk of liver tumor[J].Ann N Y Acad Sci,2010,1089(1):228-236.
[21]Martens DH,Rake JP,Schwarz M,et al.Pregnancies in glycogen storage disease typeⅠa[J].Am J Obstet Gynecol,2008,198(6):646.e1-e7.
[2]袁裕衡,刘妍,邱正庆.3例糖原累积症Ⅰb型SLC37A4基因分析[J].临床儿科杂志,2017,35(3):179-182.
[3]Chou JY,Matern D,Mansfield BC,et al.TypeⅠglycogen storage diseases:disorders of the glucose-6-phosphatase complex[J].Curr Mol Med,2002,2(2):121-143.
[4]Chou JY,Jun HS,Mansfield BC.Neutropenia in typeⅠb glycogen storage disease[J].Curr Opin Hematol,2010,17(1):36-42.
[5]Boztug K,Appaswamy G,Ashikov A,et al.A syndrome with congenital neutropenia and mutations in G6PC3[J].N Engl J Med,2009,360(1):32-43.
[6]Bartoli A,BossùM,Sfasciotti G,et al.Glycogen storage disease typeⅠb:a paediatric case report[J].Eur J Paediatr Dent,2006,7(4):192-198.
[7]Ma R,Moein Vaziri F,Sabino G,et al.Glycogen storage diseaseⅠb and severe periodontal destruction:a case report[J].Dent J(Basel),2018,6(4):E53.
[8]Duplan MB,Hubert A,Norcy EL,et al.Dental and periodontal manifestations of glycogen storage diseases:a case series of 60patients[J].J Inherit Metab Dis,2018,41(6):947-953.
[9]Cheung YY,Kim SY,Yiu WH,et al.Impaired neutrophil activity and increased susceptibility to bacterial infection in mice lacking glucose-6-phosphatase-beta[J].J Clin Invest,2007,117(3):784-793.
[10]Kim SY,Jun HS,Mead PA,et al.Neutrophil stress and apoptosis underlie myeloid dysfunction in glycogen storage disease typeⅠb[J].Blood,2008,111(12):5704-5711.
[11]Kishnani PS,Austin SL,Abdenur JE,et al.Diagnosis and management of glycogen storage disease typeⅠ:a practice guideline of the American College of Medical Genetics and Genomics[J].GenetMed,2014,16(11):e1.
[12]Angaroni CJ,Labrune P,Petit F,et al.Glycogen storage disease typeⅠb without neutropenia generated by a novel splice-site mutation in the glucose-6-phosphate translocase gene[J].Mol Genet Metab,2006,88(1):96-99.
[13]邱正庆,卢超霞,王薇,等.糖原累积症Ⅰb型15家系SLC37A4基因分析研究[J].中华儿科杂志,2011,49(3):203-208.
[14]Bhattacharya K,Orton RC,Qi X,et al.A novel starch for the treatment of glycogen storage diseases[J].J Inherit Metab Dis,2007,30(3):350-357.
[15]Maheshwari A,Rankin R,Segev DL,et al.Outcomes of liver transplantation for glycogen storage disease:a matched-control study and a review of literature[J].Clin Transplant,2012,26(3):432-436.
[16]Martens DH,Rake JP,Navis G,et al.Renal function in glycogen storage disease typeⅠ,natural course,and renopreservative effects of ACE inhibition[J].Clin J Am Soc Nephrol,2009,4(11):1741-1746.
[17]Li AM,Thyagu S,Maze D,et al.Prolonged granulocyte colony stimulating factor use in glycogen storage disease type 1b associated with acute myeloid leukemia and with shortened telomere length[J].Pediatr Hematol Oncol,2018,35(1):45-51.
[18]Mortellaro C,Garagiola U,Carbone V,et al.Unusual oral manifestations and evolution in glycogen storage disease typeⅠb[J].J Craniofac Surg,2005,16(1):45-52.
[19]Kawai T.Anesthetic management for an emergency operation in a patient with von Gierke disease[J].Masui,2005,54(8):924-925.
[20]Giannitrapani L,Soresi M,La SE,et al.Sex hormones and risk of liver tumor[J].Ann N Y Acad Sci,2010,1089(1):228-236.
[21]Martens DH,Rake JP,Schwarz M,et al.Pregnancies in glycogen storage disease typeⅠa[J].Am J Obstet Gynecol,2008,198(6):646.e1-e7.