以反复泌尿道感染发病的Bardet-Biedl综合征一例报道及文献复习
|
摘要
Bardet-Biedl综合征(BBS)是一种罕见的常染色体隐性遗传病,临床表现隐匿,主要为多指(趾)畸形、肥胖、进行性视网膜病变、智力发育迟缓、肾功能不全、男性性腺功能发育不全,有较高致残率。本文通过报道1例确诊为BBS患儿的诊治过程,并进行文献复习,总结其临床特点、实验室检查及诊断标准,以提高临床医生对BBS的认识,早期诊断,避免漏诊误诊,从而改善患者预后。
Bardet-Biedl syndrome(BBS) is a rare autosomal recessive genetic disease with an occult onset.The features of BBS include polydactylism,obesity,progressive retinopathy,mental retardation,renal in sufficiency,and gonadal dysgenesis.BBS also has a high disability rate.We report a patient diagnosed with BBS and review the clinical features,laboratory test results,and diagnostic criteria to raise awareness of BBS.We recommend genetic testing for patients suspected to have BBS to establish the diagnosis and initiate treatment early,and to avoid misdiagnosis,which will improve the prognosis.
Bardet-Biedl syndrome(BBS) is a rare autosomal recessive genetic disease with an occult onset.The features of BBS include polydactylism,obesity,progressive retinopathy,mental retardation,renal in sufficiency,and gonadal dysgenesis.BBS also has a high disability rate.We report a patient diagnosed with BBS and review the clinical features,laboratory test results,and diagnostic criteria to raise awareness of BBS.We recommend genetic testing for patients suspected to have BBS to establish the diagnosis and initiate treatment early,and to avoid misdiagnosis,which will improve the prognosis.
引文
[1]HEON E,KIM G,QIN S,et al.Mutations in C8ORF37 cause Bardet Biedl syndrome(BBS21)[J].Hum Mol Genet,2016,25(11):2283-2294.DOI:10.1093/hmg/ddw096.
[2]沈涛,严新民,肖春杰.巴德-毕氏综合征研究的现状及意义[J].中华医学遗传学杂志,2013,30(5):570-572.DOI:10.3760/cma.j.issn.1003-9406.2013.05.013.
[3]FORSYTHE E,BEALES P L.Bardet-Biedl syndrome[J].EurJHumGenet,2013,21(1):8-13.DOI:10.1038/ejhg.2012.115.
[4]M'HAMDI O,OUERTANI I,MAAZOUL F,et al.Prevalence of Bardet-Biedl syndrome in Tunisia[J].J Community Genet,2011,2(2):97-99.DOI:10.1007/s12687-011-0040-6.
[5]MOORE S J,GREEN J S,FAN Y,et al.Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland:a 22 year prospective,population-based,cohort study[J].Am J Med Genet A,2005,132A(4):352-360.DOI:10.1002/ajmg.a.30406.
[6]WOODS M O,YOUG T L,PARFREY P S,et al.Genetic heterogeneity of Bardet-biedl syndrome in a distinct Canadian population:evidence for a fifth locus[J].Genomics,1999,55(1):2-9.
[7]SUSPITSIN E N,IMYANITOV E N.Bardet-Biedl syndrome[J].MolSyndromol,2016,7(2):62-71.DOI:10.1159/000445491.
[8]BADANO J L,KIM J C,HOSKINS B E,et al.Heterozygous mutations in BBS1,BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBSlocus[J].Hum Mol Genet,2003,12(14):1651-1659.
[9]JANSSEN S,RAMASWAMI G,DAVIS E E,et al.Mutations analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals[J].Hum Genet,2011,129(1):79-90.DOI:10.1007/s00439-010-0902-8.
[10]SMAOUI N,CHAABOUNI M,SERGEEV Y V,et al.Screening of the eight BBS genes in Tunisian families:no evidence of triallelism[J].Invest Ophthalmol Vis Sci,2006,47(8):3487-3495.DOI:10.1167/iovs.05-1334.
[11]M'HAMDI O,REDIN C,STOETZEL C,et al.Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia:defining a strategy for molecular diagnosis[J].Clin Genet,2014,85(2):172-177.DOI:10.1111/cge.12129.
[12]ABU-SAFIEH L,ALDAHMESH M A,SHAMSELDIN H,et al.Clinical and molecular characterization of Bardet-Biedl syndrome in consanguineous populations:the power of homozygosity mapping[J].J Med Genet,2010,47(4):236-241.DOI:10.1136/jmg.2009.070755.
[13]ABU-SAFIEH L,AL-ANAZI S,AL-ABDI L,et al.In search of triallelism in Bardet-Biedl syndrome[J].Eur J Hum Genet,2012,20(4):420-427.DOI:10.1038/ejhg.2011.205.
[14]M'HAMDI O,OUERTANI I,CHAABOUNI-BOUHAMED H,et al.Update on the genetics of Bardet-Biedl syndrome[J].Mol Syndromol,2014,5(2):51-56.DOI:10.1159/000357054.
[15]DAVID A,BITOUN P,LACOMBE D,et al.Hydrometrocolpos and polydactyly:a common neonata l presentation of Bardet-Biedl and Mc Kusick-Kaufman syndromes[J].J Med Genet,1999,36(8):599-603.
[16]BEALES P L,ELCIOGLU N,WOOLF A S,et al,New criteria for improved diagnosis of Bardet-Biedl syndrome:results of a population survey[J].J Med Genet,1999,36(6):437-446.
[17]IANNELLO S,BOSCO P,CAVALERI A,et al.A review of the literature of Bardet-Biedl disease and report of three cases associated with metabolic syndrome and diagnosed after the age of fifty[J].Obes Rev,2002,3(2):123-135.
[18]徐峰,曾彩虹.家族性遗传性间质性肾炎[J].肾脏病与透析肾移植杂志,2009,18(2):167-172.DOI:10.3969/j.issn.1006-298X.2009.02.015.
[19]KUTE V B,VANIKAR A V,GUMBER M R,et al.Bardetbiedl syndrome:a rare cause of chronic kidney disease[J].Indian J Clin Bioehem,2013,28(2):201-205.DOI:10.1007/s12291-012-0275-y.
[20]郑湘榕,尹飞,黄榕,等.Bardet-Biedl综合征1例[J].中国当代儿科杂志,2011,13(7):602-603.
[21]VELERI S,BISHOP K,DALLE NOGARE D E,et al.Knockdown of Bardet-Biedl syndrome gene BBS9/PTHB1 leads to cilia defects[J].PLo S One,2012,7(3):e34389.DOI:10.1371/journal.pone.0034389.
[22]KULAGA H M,LEITCH C C,EICHERS E R,et al.Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse[J].Nat Genet,2004,36(9):994-998.DOI:10.1038/ng1418.
[23]MCCANDLESS S E,Committee on Genetics.Clinical reporthealth supervision for children with Prader-Willi syndrome[J].Pediatrics,2011,127(1):195-204.DOI:10.1542/peds.2010-2820.
[24]HTYNCHAK P K.Bardet-Biedl syndrome[J].Optom Vis Sci,2000,77(5):236-243.
[25]匡蕾,王炜,叶山东,等.Alstrom综合征一例[J].中华糖尿病杂志,2013,5(3):189-190.DOI:10.3760/cma.j.issn.1674-5809.2013.03.015.2017122320180319
[2]沈涛,严新民,肖春杰.巴德-毕氏综合征研究的现状及意义[J].中华医学遗传学杂志,2013,30(5):570-572.DOI:10.3760/cma.j.issn.1003-9406.2013.05.013.
[3]FORSYTHE E,BEALES P L.Bardet-Biedl syndrome[J].EurJHumGenet,2013,21(1):8-13.DOI:10.1038/ejhg.2012.115.
[4]M'HAMDI O,OUERTANI I,MAAZOUL F,et al.Prevalence of Bardet-Biedl syndrome in Tunisia[J].J Community Genet,2011,2(2):97-99.DOI:10.1007/s12687-011-0040-6.
[5]MOORE S J,GREEN J S,FAN Y,et al.Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland:a 22 year prospective,population-based,cohort study[J].Am J Med Genet A,2005,132A(4):352-360.DOI:10.1002/ajmg.a.30406.
[6]WOODS M O,YOUG T L,PARFREY P S,et al.Genetic heterogeneity of Bardet-biedl syndrome in a distinct Canadian population:evidence for a fifth locus[J].Genomics,1999,55(1):2-9.
[7]SUSPITSIN E N,IMYANITOV E N.Bardet-Biedl syndrome[J].MolSyndromol,2016,7(2):62-71.DOI:10.1159/000445491.
[8]BADANO J L,KIM J C,HOSKINS B E,et al.Heterozygous mutations in BBS1,BBS2 and BBS6 have a potential epistatic effect on Bardet-Biedl patients with two mutations at a second BBSlocus[J].Hum Mol Genet,2003,12(14):1651-1659.
[9]JANSSEN S,RAMASWAMI G,DAVIS E E,et al.Mutations analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals[J].Hum Genet,2011,129(1):79-90.DOI:10.1007/s00439-010-0902-8.
[10]SMAOUI N,CHAABOUNI M,SERGEEV Y V,et al.Screening of the eight BBS genes in Tunisian families:no evidence of triallelism[J].Invest Ophthalmol Vis Sci,2006,47(8):3487-3495.DOI:10.1167/iovs.05-1334.
[11]M'HAMDI O,REDIN C,STOETZEL C,et al.Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia:defining a strategy for molecular diagnosis[J].Clin Genet,2014,85(2):172-177.DOI:10.1111/cge.12129.
[12]ABU-SAFIEH L,ALDAHMESH M A,SHAMSELDIN H,et al.Clinical and molecular characterization of Bardet-Biedl syndrome in consanguineous populations:the power of homozygosity mapping[J].J Med Genet,2010,47(4):236-241.DOI:10.1136/jmg.2009.070755.
[13]ABU-SAFIEH L,AL-ANAZI S,AL-ABDI L,et al.In search of triallelism in Bardet-Biedl syndrome[J].Eur J Hum Genet,2012,20(4):420-427.DOI:10.1038/ejhg.2011.205.
[14]M'HAMDI O,OUERTANI I,CHAABOUNI-BOUHAMED H,et al.Update on the genetics of Bardet-Biedl syndrome[J].Mol Syndromol,2014,5(2):51-56.DOI:10.1159/000357054.
[15]DAVID A,BITOUN P,LACOMBE D,et al.Hydrometrocolpos and polydactyly:a common neonata l presentation of Bardet-Biedl and Mc Kusick-Kaufman syndromes[J].J Med Genet,1999,36(8):599-603.
[16]BEALES P L,ELCIOGLU N,WOOLF A S,et al,New criteria for improved diagnosis of Bardet-Biedl syndrome:results of a population survey[J].J Med Genet,1999,36(6):437-446.
[17]IANNELLO S,BOSCO P,CAVALERI A,et al.A review of the literature of Bardet-Biedl disease and report of three cases associated with metabolic syndrome and diagnosed after the age of fifty[J].Obes Rev,2002,3(2):123-135.
[18]徐峰,曾彩虹.家族性遗传性间质性肾炎[J].肾脏病与透析肾移植杂志,2009,18(2):167-172.DOI:10.3969/j.issn.1006-298X.2009.02.015.
[19]KUTE V B,VANIKAR A V,GUMBER M R,et al.Bardetbiedl syndrome:a rare cause of chronic kidney disease[J].Indian J Clin Bioehem,2013,28(2):201-205.DOI:10.1007/s12291-012-0275-y.
[20]郑湘榕,尹飞,黄榕,等.Bardet-Biedl综合征1例[J].中国当代儿科杂志,2011,13(7):602-603.
[21]VELERI S,BISHOP K,DALLE NOGARE D E,et al.Knockdown of Bardet-Biedl syndrome gene BBS9/PTHB1 leads to cilia defects[J].PLo S One,2012,7(3):e34389.DOI:10.1371/journal.pone.0034389.
[22]KULAGA H M,LEITCH C C,EICHERS E R,et al.Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse[J].Nat Genet,2004,36(9):994-998.DOI:10.1038/ng1418.
[23]MCCANDLESS S E,Committee on Genetics.Clinical reporthealth supervision for children with Prader-Willi syndrome[J].Pediatrics,2011,127(1):195-204.DOI:10.1542/peds.2010-2820.
[24]HTYNCHAK P K.Bardet-Biedl syndrome[J].Optom Vis Sci,2000,77(5):236-243.
[25]匡蕾,王炜,叶山东,等.Alstrom综合征一例[J].中华糖尿病杂志,2013,5(3):189-190.DOI:10.3760/cma.j.issn.1674-5809.2013.03.015.2017122320180319