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Two Case Reports of FGF23-Induced Hypophosphatemia in Childhood Biliary Atresia.两例儿童先天性胆道闭锁中 FGF23 诱导的低磷血症病例报告。
Pediatrics. 2016 Aug;138(2). doi: 10.1542/peds.2015-4453.
2
Common genetic variants of GPC1 gene reduce risk of biliary atresia in a Chinese population.GPC1基因的常见遗传变异降低中国人群患胆道闭锁的风险。
J Pediatr Surg. 2016 Oct;51(10):1661-4. doi: 10.1016/j.jpedsurg.2016.05.009. Epub 2016 May 31.
3
Genetic insights into the mechanisms of Fgf signaling.成纤维细胞生长因子（Fgf）信号传导机制的遗传学见解。
Genes Dev. 2016 Apr 1;30(7):751-71. doi: 10.1101/gad.277137.115.
4
Methylation Microarray Studies Highlight PDGFA Expression as a Factor in Biliary Atresia.甲基化微阵列研究强调血小板衍生生长因子A（PDGFA）表达是胆道闭锁的一个因素。
PLoS One. 2016 Mar 24;11(3):e0151521. doi: 10.1371/journal.pone.0151521. eCollection 2016.
5
Expression of fibroblast growth factor 21 in patients with biliary atresia.成纤维细胞生长因子21在胆道闭锁患者中的表达。
Cytokine. 2016 Jul;83:13-18. doi: 10.1016/j.cyto.2016.03.003. Epub 2016 Mar 21.
6
Expression of transforming growth factor-β1 and connective tissue growth factor in congenital biliary atresia and neonatal hepatitis liver tissue.转化生长因子-β1和结缔组织生长因子在先天性胆道闭锁及新生儿肝炎肝组织中的表达
Genet Mol Res. 2016 Feb 19;15(1):gmr7217. doi: 10.4238/gmr.15017217.
7
HDR syndrome in a Japanese girl with biliary atresia: a case report.一名患有胆道闭锁的日本女孩的HDR综合征：病例报告。
BMC Pediatr. 2016 Jan 22;16:14. doi: 10.1186/s12887-016-0550-9.
8
Fibroblast growth factor signaling in skeletal development and disease.成纤维细胞生长因子信号在骨骼发育与疾病中的作用
Genes Dev. 2015 Jul 15;29(14):1463-86. doi: 10.1101/gad.266551.115.
9
Genetic contributors and modifiers of biliary atresia.胆道闭锁的遗传因素及修饰因子
Dig Dis. 2015;33(3):408-14. doi: 10.1159/000371694. Epub 2015 May 27.
10
Genome-wide association studies in biliary atresia.胆道闭锁的全基因组关联研究。
Wiley Interdiscip Rev Syst Biol Med. 2015 Sep-Oct;7(5):267-73. doi: 10.1002/wsbm.1303. Epub 2015 May 11.

软骨发育不全与胆道闭锁：一种罕见的关联及文献综述

Achondroplasia and Biliary Atresia: A Rare Association and Review of Literature.

作者信息

Kylat Ranjit I

机构信息

Division of Neonatal-Perinatal Medicine and Developmental Biology, Department of Pediatrics, University of Arizona, Tucson, Arizona, United States.

出版信息

J Pediatr Genet. 2017 Jun;6(2):122-125. doi: 10.1055/s-0036-1597930. Epub 2017 Jan 2.

DOI:10.1055/s-0036-1597930
PMID:28497003
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5423800/
Abstract

Achondroplasia (ACH) occurs in most cases as de novo mutations of the gene-encoding fibroblast growth factor receptor 3 (FGFR3). Biliary atresia (BA) is a progressive neonatal inflammatory and fibro-obliterative cholangiopathy affecting the extra- and intrahepatic biliary tree to varying degrees, and it results in obstruction to bile flow and cholestatic jaundice in neonates. BA is thought to be a multifactorial disease, genome association studies have shown abnormalities in susceptibility genes, and levels of fibroblast growth factor 21 (FGF21) and fibroblast growth factor 23 (FGF23) have been noted to be increased. These two conditions occurring in the same patient has never been reported before.

摘要

软骨发育不全（ACH）在大多数情况下是由编码成纤维细胞生长因子受体3（FGFR3）的基因发生新发突变引起的。胆道闭锁（BA）是一种进行性新生儿炎症性和纤维闭塞性胆管病，会不同程度地影响肝外和肝内胆管树，导致新生儿胆汁流动受阻和胆汁淤积性黄疸。BA被认为是一种多因素疾病，全基因组关联研究已显示出易感基因存在异常，并且已注意到成纤维细胞生长因子21（FGF21）和成纤维细胞生长因子23（FGF23）的水平有所升高。此前从未有过同一患者同时出现这两种病症的报道。