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J Pediatr Genet 2021; 10(01): 001-008
DOI: 10.1055/s-0040-1714701
Review Article

Autosomal Recessive Polycystic Kidney Disease—The Clinical Aspects and Diagnostic Challenges

Dorota Wicher
1   Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, Poland
,
Łukasz Obrycki
2   Department of Nephrology, Kidney Transplantation and Hypertension, Children's Memorial Health Institute, Warsaw, Poland
,
Irena Jankowska
3   Department of Gastroenterology, Hepatology, Feeding Disorders and Pediatrics, Children's Memorial Health Institute, Warsaw, Poland
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Abstract

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.

Keywords

autosomal recessive polycystic kidney disease - congenital hepatic fibrosis - next-generation sequencing


Publication History

Received: 06 May 2020

Accepted: 18 June 2020

Article published online:
29 July 2020

© 2020. Thieme. All rights reserved.

Georg Thieme Verlag KG
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