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肝脏纤毛病综合征

Hepatic Ciliopathy Syndromes.

作者信息

Diamond Tamir, Nema Noor, Wen Jessica

机构信息

Division of Gastroenterology, Hepatology and Nutrition Children's Hospital of Philadelphia Philadelphia PA.

Department of Pediatrics Perelman School of Medicine University of Pennsylvania Philadelphia PA.

出版信息

Clin Liver Dis (Hoboken). 2021 Oct 27;18(4):193-197. doi: 10.1002/cld.1114. eCollection 2021 Oct.

DOI:10.1002/cld.1114
PMID:34745577
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8549716/
Abstract

Content available: Author Interview and Audio Recording.

摘要

提供的内容

作者访谈及音频记录。

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Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease.外显子组测序揭示非综合征性胆汁淤积性肝病患者的 IFT172 变异。
PLoS One. 2023 Jul 20;18(7):e0288907. doi: 10.1371/journal.pone.0288907. eCollection 2023.
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Case Report: Add-on treatment with odevixibat in a new subtype of progressive familial intrahepatic cholestasis broadens the therapeutic horizon of genetic cholestasis.病例报告：odevixibat用于进行性家族性肝内胆汁淤积症新亚型的附加治疗拓宽了遗传性胆汁淤积症的治疗视野。
Front Pediatr. 2023 Feb 14;11:1061535. doi: 10.3389/fped.2023.1061535. eCollection 2023.
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Case Report: Sequential Liver After Kidney Transplantation in a Patient With Sensenbrenner Syndrome (Cranioectodermal Dysplasia).病例报告：森森布伦纳综合征（颅外胚层发育不良）患者肾移植后序贯肝移植
Front Pediatr. 2022 Feb 25;10:834064. doi: 10.3389/fped.2022.834064. eCollection 2022.

本文引用的文献

1
Long-term kidney and liver outcome in 50 children with autosomal recessive polycystic kidney disease.50 例常染色体隐性遗传性多囊肾病患儿的长期肾脏和肝脏预后。
Pediatr Nephrol. 2021 May;36(5):1165-1173. doi: 10.1007/s00467-020-04808-9. Epub 2020 Nov 9.
2
Magnetic resonance imaging of fibropolycystic liver disease: the spectrum of ductal plate malformations.纤维多囊性肝病的磁共振成像：胆管板畸形的范围。
Abdom Radiol (NY). 2019 Jun;44(6):2156-2171. doi: 10.1007/s00261-019-01966-9.
3
Tesevatinib ameliorates progression of polycystic kidney disease in rodent models of autosomal recessive polycystic kidney disease.替塞瓦替尼可改善常染色体隐性多囊肾病啮齿动物模型中多囊肾病的进展。
World J Nephrol. 2017 Jul 6;6(4):188-200. doi: 10.5527/wjn.v6.i4.188.
4
Diagnosis and Management of Hepatobiliary Complications in Autosomal Recessive Polycystic Kidney Disease.常染色体隐性多囊肾病肝胆并发症的诊断与管理
Front Pediatr. 2017 May 29;5:124. doi: 10.3389/fped.2017.00124. eCollection 2017.
5
Surgical Management of Caroli's Disease: Single Center Experience and Review of the Literature.卡洛里病的外科治疗：单中心经验及文献综述
J Gastrointest Surg. 2015 Nov;19(11):2019-27. doi: 10.1007/s11605-015-2918-9. Epub 2015 Aug 25.
6
Kidney and liver transplantation in children with fibrocystic liver-kidney disease: data from the US Scientific Registry of Transplant Recipients: 1990-2010.患有纤维囊性肝肾疾病儿童的肾和肝移植：来自美国移植受者科学登记处的数据：1990 - 2010年
Pediatr Transplant. 2014 Nov;18(7):726-32. doi: 10.1111/petr.12330. Epub 2014 Jul 29.
7
Liver involvement in children with ciliopathies.纤毛病患儿的肝脏受累情况。
Clin Res Hepatol Gastroenterol. 2014 Sep;38(4):407-14. doi: 10.1016/j.clinre.2014.04.001. Epub 2014 Jun 19.
8
New approaches to the autosomal recessive polycystic kidney disease patient with dual kidney-liver complications.针对患有双肾-肝脏并发症的常染色体隐性多囊肾病患者的新治疗方法。
Pediatr Transplant. 2013 Jun;17(4):328-35. doi: 10.1111/petr.12076. Epub 2013 Apr 17.
9
Congenital hepatic fibrosis and autosomal recessive polycystic kidney disease.先天性肝纤维化和常染色体隐性多囊肾病。
J Pediatr Gastroenterol Nutr. 2012 May;54(5):580-7. doi: 10.1097/MPG.0b013e31824711b7.
10
Ciliopathies: an expanding disease spectrum.纤毛病：不断扩展的疾病谱。
Pediatr Nephrol. 2011 Jul;26(7):1039-56. doi: 10.1007/s00467-010-1731-7. Epub 2011 Jan 6.