终末期肾病、鉴别诊断、一种罕见的遗传性疾病：巴德-比德尔综合征：病例报告及文献复习
End stage renal disease, differential diagnosis, a rare genetic disorder: bardet-biedl syndrome: case report and review.
作者信息
Sowjanya B, Sreenivasulu U, Naidu J N, Sivaranjani N
机构信息
Department of Biochemistry, Narayana Medical College, Nellore, AP India.
出版信息
Indian J Clin Biochem. 2011 Apr;26(2):214-6. doi: 10.1007/s12291-011-0116-4. Epub 2011 Feb 4.
Abstract
End stage renal disease (ESRD) represents a clinical condition in which there is an irreversible loss of endogenous renal function. Both structural and functional abnormalities of the kidney are associated with increased morbidity, mortality. Bardet-Biedel syndrome (BBS) is one of the rare genetic disorders with prevalence of 1 in 1, 40,000-1 in 1,60,000 worldwide. ESRD in BBS patients is the final stage of the disease, increasing mortality in youth.
摘要
终末期肾病（ESRD）是一种内源性肾功能出现不可逆丧失的临床病症。肾脏的结构和功能异常均与发病率和死亡率的增加相关。巴德-比德尔综合征（BBS）是一种罕见的遗传性疾病，在全球的患病率为1/40000至1/160000。BBS患者的ESRD是该疾病的终末期，会增加年轻人的死亡率。
相似文献
1
End stage renal disease, differential diagnosis, a rare genetic disorder: bardet-biedl syndrome: case report and review.终末期肾病、鉴别诊断、一种罕见的遗传性疾病：巴德-比德尔综合征：病例报告及文献复习
Indian J Clin Biochem. 2011 Apr;26(2):214-6. doi: 10.1007/s12291-011-0116-4. Epub 2011 Feb 4.
2
Renal features of Bardet Biedl syndrome: A single center experience.巴德-比德尔综合征的肾脏特征：单中心经验
Turk J Pediatr. 2019;61(2):186-192. doi: 10.24953/turkjped.2019.02.006.
3
The importance of renal impairment in the natural history of Bardet-Biedl syndrome.肾功能损害在巴德-比德尔综合征自然病程中的重要性。
Am J Kidney Dis. 1996 Jun;27(6):776-83. doi: 10.1016/s0272-6386(96)90513-2.
4
Bardet-Biedl syndrome: Delayed diagnosis in a 14-year-old child with end-stage renal disease.巴德-比德尔综合征：一名患有终末期肾病的14岁儿童的延迟诊断
Clin Case Rep. 2023 Jul 4;11(7):e7649. doi: 10.1002/ccr3.7649. eCollection 2023 Jul.
5
Bardet-Biedl syndrome with end-stage kidney disease in a four-year-old Romanian boy: a case report.一名四岁罗马尼亚男孩患伴有终末期肾病的巴德-比德尔综合征：病例报告
J Med Case Rep. 2011 Aug 15;5:378. doi: 10.1186/1752-1947-5-378.
6
Impact of Local and Systemic Factors on Kidney Dysfunction in Bardet-Biedl Syndrome.局部和全身因素对巴德-比德尔综合征肾功能障碍的影响
Kidney Blood Press Res. 2017;42(5):784-793. doi: 10.1159/000484301. Epub 2017 Nov 21.
7
Bardet-Biedl Syndrome with End Stage Renal Disease.伴有终末期肾病的巴德-比德尔综合征
Iran J Med Sci. 2016 Nov;41(6):539-542.
8
[Clinical features of Bardet-Biedl syndrome with renal abnormalities as initial manifestations].以肾脏异常为首发表现的巴德-比德尔综合征的临床特征
Zhonghua Er Ke Za Zhi. 2014 Aug;52(8):611-5.
9
Bardet Biedl syndrome: A rare genetic disorder.巴德-比埃尔综合征：一种罕见的遗传性疾病。
J Pak Med Assoc. 2020 Sep;70(9):1651-1652. doi: 10.5455/JPMA.48903.
10
Continuous ambulatory peritoneal dialysis for a patient with Bardet-Biedl syndrome.
Iran J Kidney Dis. 2008 Oct;2(4):237-9.
引用本文的文献
1
Bardet-Biedl syndrome in a 19-year-old male: the first case report from Palestine.一名19岁男性的巴德-比德尔综合征：巴勒斯坦首例病例报告。
Front Pediatr. 2024 Jun 11;12:1420684. doi: 10.3389/fped.2024.1420684. eCollection 2024.
2
A Unique Manifestation of Bardet-Biedl Syndrome with Otolaryngologic Symptoms and Bronchopneumonia in a One-year-old Girl.一名一岁女童患巴德-比德尔综合征的独特表现，伴有耳鼻喉症状和支气管肺炎
Cureus. 2019 Sep 21;11(9):e5717. doi: 10.7759/cureus.5717.
3
Bardet-Biedl syndrome presenting with steroid sensitive nephrotic syndrome.表现为类固醇敏感性肾病综合征的巴德-比德尔综合征
Indian J Nephrol. 2015 Sep-Oct;25(5):300-2. doi: 10.4103/0971-4065.151765.
4
Two brothers with bardet-biedl syndrome presenting with chronic renal failure.两名患有巴德-比德尔综合征的兄弟出现慢性肾衰竭。
Case Rep Nephrol. 2015;2015:764973. doi: 10.1155/2015/764973. Epub 2015 Apr 15.
5
Update on the genetics of bardet-biedl syndrome.巴德-比德尔综合征遗传学研究进展
Mol Syndromol. 2014 Feb;5(2):51-6. doi: 10.1159/000357054. Epub 2013 Dec 20.
6
Bardet-biedl syndrome: a rare cause of chronic kidney disease.巴德-比德尔综合征：慢性肾脏病的罕见病因。
Indian J Clin Biochem. 2013 Apr;28(2):201-5. doi: 10.1007/s12291-012-0275-y. Epub 2012 Oct 30.
本文引用的文献
1
Renal transplant in a child with Bardet-Biedl syndrome: A rare cause of end-stage renal disease.一名患有巴德-比德尔综合征儿童的肾移植：终末期肾病的罕见病因。
Indian J Nephrol. 2009 Jul;19(3):112-4. doi: 10.4103/0971-4065.57108.
2
Genetic interaction between Bardet-Biedl syndrome genes and implications for limb patterning.巴德-比德尔综合征基因之间的遗传相互作用及其对肢体模式形成的影响。
Hum Mol Genet. 2008 Jul 1;17(13):1956-67. doi: 10.1093/hmg/ddn093. Epub 2008 Apr 1.
3
Bardet-Biedl syndrome proteins are required for the localization of G protein-coupled receptors to primary cilia.巴德-比埃尔综合征蛋白是G蛋白偶联受体定位于初级纤毛所必需的。
Proc Natl Acad Sci U S A. 2008 Mar 18;105(11):4242-6. doi: 10.1073/pnas.0711027105. Epub 2008 Mar 11.
4
Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome.综合征性脑膨出基因的亚效突变与巴德-比德尔综合征相关。
Nat Genet. 2008 Apr;40(4):443-8. doi: 10.1038/ng.97. Epub 2008 Mar 9.
5
Leptin resistance contributes to obesity and hypertension in mouse models of Bardet-Biedl syndrome.在巴德-比德尔综合征小鼠模型中，瘦素抵抗会导致肥胖和高血压。
J Clin Invest. 2008 Apr;118(4):1458-67. doi: 10.1172/JCI32357.
6
A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis.BBS蛋白的核心复合物与GTP酶Rab8协同作用，以促进纤毛膜生物发生。
Cell. 2007 Jun 15;129(6):1201-13. doi: 10.1016/j.cell.2007.03.053.
7
Temporal expression pattern of Bardet-Biedl syndrome genes in adipogenesis.巴德-比德尔综合征基因在脂肪生成中的时间表达模式。
Int J Biochem Cell Biol. 2007;39(5):1055-62. doi: 10.1016/j.biocel.2007.02.014. Epub 2007 Feb 25.
8
Comparative genomics and gene expression analysis identifies BBS9, a new Bardet-Biedl syndrome gene.比较基因组学和基因表达分析鉴定出一个新的巴德-比埃尔综合征基因BBS9。
Am J Hum Genet. 2005 Dec;77(6):1021-33. doi: 10.1086/498323. Epub 2005 Oct 26.
9
Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: a 22-year prospective, population-based, cohort study.纽芬兰地区巴德-比德尔综合征的临床与遗传流行病学：一项为期22年的基于人群的前瞻性队列研究。
Am J Med Genet A. 2005 Feb 1;132A(4):352-60. doi: 10.1002/ajmg.a.30406.
10
Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin.Bbs2基因敲除小鼠存在神经感觉缺陷、社会优势缺陷以及与视紫红质定位错误相关的视网膜病变。
Proc Natl Acad Sci U S A. 2004 Nov 23;101(47):16588-93. doi: 10.1073/pnas.0405496101. Epub 2004 Nov 11.
Zotero 插件