Open AccessAutosomal Recessive Polycystic Kidney Disease—The Clinical Aspects and Diagnostic Challenges
Author(s) -
Dorota Wicher,
Łukasz Obrycki,
Irena Jankowska
Publication year - 2020
Publication title -
journal of pediatric genetics
Language(s) - English
Resource type - Journals
eISSN - 2146-4596
pISSN - 2146-460X
DOI - 10.1055/s-0040-1714701
Subject(s) - autosomal recessive polycystic kidney disease , ciliopathies , medicine , genetic testing , ciliopathy , polycystic kidney disease , differential diagnosis , disease , pkd1 , pathology , intensive care medicine , bioinformatics , pediatrics , biology , genetics , gene , phenotype
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.