常染色体隐性多囊肾病的临床特点和诊断挑战。

IF 0.4 Q4 PEDIATRICS

Journal of pediatric genetics Pub Date : 2021-03-01 Epub Date: 2020-07-29 DOI:10.1055/s-0040-1714701

Dorota Wicher, Łukasz Obrycki, Irena Jankowska

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引用次数: 6

摘要

常染色体隐性多囊肾病(ARPKD)是最常见的纤毛病之一，伴有肾脏(肾小球、高血压、肾功能不全)和肝脏(先天性肝纤维化、胆管扩张)受累。临床特征还包括生长衰竭和神经认知障碍。临床方面的多元化需要多学科的方法来治疗和护理患者。直到最近，诊断都是基于临床标准。基因检测结果显示多囊肾疾病的分子基础是异质性的，鉴别诊断是必要的。本文的目的是讨论基因检测在儿童ARPKD诊断中的作用及其困难。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Autosomal Recessive Polycystic Kidney Disease-The Clinical Aspects and Diagnostic Challenges.

Autosomal recessive polycystic kidney disease (ARPKD) is one of the most common ciliopathies with kidney (nephromegaly, hypertension, renal dysfunction) and liver involvement (congenital hepatic fibrosis, dilated bile ducts). Clinical features also include growth failure and neurocognitive impairment. Plurality of clinical aspects requires multidisciplinary approach to treatment and care of patients. Until recently, diagnosis was based on clinical criteria. Results of genetic testing show the molecular basis of polycystic kidneys disease is heterogeneous, and differential diagnosis is essential. The aim of the article is to discuss the role of genetic testing and its difficulties in diagnostics of ARPKD in children.

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来源期刊

Journal of pediatric genetics PEDIATRICS-

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期刊介绍： The Journal of Pediatric Genetics is an English multidisciplinary peer-reviewed international journal publishing articles on all aspects of genetics in childhood and of the genetics of experimental models. These topics include clinical genetics, molecular genetics, biochemical genetics, medical genetics, dysmorphology, teratology, genetic counselling, genetic engineering, formal genetics, neuropsychiatric genetics, behavioral genetics, community genetics, cytogenetics, hereditary or syndromic cancer genetics, genetic mapping, reproductive genetics, fetal pathology and prenatal diagnosis, multiple congenital anomaly syndromes, and molecular embryology of birth defects. Journal of Pediatric Genetics provides an in-depth update on new subjects and current comprehensive coverage of the latest techniques used in the diagnosis of childhood genetics. Journal of Pediatric Genetics encourages submissions from all authors throughout the world. The following articles will be considered for publication: editorials, original and review articles, short report, rapid communications, case reports, letters to the editor, and book reviews. The aim of the journal is to share and disseminate knowledge between all disciplines in the field of pediatric genetics. This journal is a publication of the World Pediatric Society: http://www.worldpediatricsociety.org/ The Journal of Pediatric Genetics is available in print and online. Articles published ahead of print are available via the eFirst service on the Thieme E-Journals platform.