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Review
. 2021 Nov;36(11):3561-3570.
doi: 10.1007/s00467-021-04970-8. Epub 2021 Feb 17.

Early clinical management of autosomal recessive polycystic kidney disease

Max Christoph Liebau  1
Affiliations
Review

Early clinical management of autosomal recessive polycystic kidney disease

Max Christoph Liebau. Pediatr Nephrol. 2021 Nov.

Abstract

Autosomal recessive polycystic kidney disease (ARPKD) is a rare but highly relevant disorder in pediatric nephrology. This genetic disease is mainly caused by variants in the PKHD1 gene and is characterized by fibrocystic hepatorenal phenotypes with major clinical variability. ARPKD frequently presents perinatally, and the management of perinatal and early disease symptoms may be challenging. This review discusses aspects of early manifestations in ARPKD and its clincial management with a special focus on kidney disease.

Keywords: Ciliopathies; Congenital hepatic fibrosis; Fibrocystin; PKHD1; Perinatal kidney disease; Polycystic kidney disease.

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Conflict of interest statement

As a representative of the University Hospital of Cologne, MCL serves on an advisory board of Otsuka Pharmaceuticals.

Figures

Fig. 1
Fig. 1
Radiological presentation of ARPKD with enlarged kidneys detected by ultrasound (a) and magnetic resonance imaging (b)
Fig. 2
Fig. 2
Pathologic presentation of ARPKD with reniform kidneys with ubiquitous cysts (a, b) and tubular dilatations in histology (c)
Fig. 3
Fig. 3
Clinical presentations of ARPKD with an enlarged abdomen (a) or pulmonary hypoplasia on chest radiography (b)
See this image and copyright information in PMC

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References

    1. Hartung EA, Guay-Woodford LM. Autosomal recessive polycystic kidney disease: a hepatorenal fibrocystic disorder with pleiotropic effects. Pediatrics. 2014;134:e833–e845. doi: 10.1542/peds.2013-3646. - DOI - PMC - PubMed
    1. Bergmann C, Guay-Woodford LM, Harris PC, Horie S, Peters DJM, Torres VE. Polycystic kidney disease. Nat Rev Dis Primer. 2018;4:50. doi: 10.1038/s41572-018-0047-y. - DOI - PMC - PubMed
    1. Sweeney WE, Avner ED. Polycystic kidney disease, autosomal recessive. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K, Amemiya A, editors. GeneReviews®. Seattle, Seattle (WA): University of Washington; 1993. - PubMed
    1. Bergmann C, Küpper F, Dornia C, Schneider F, Senderek J, Zerres K. Algorithm for efficient PKHD1 mutation screening in autosomal recessive polycystic kidney disease (ARPKD) Hum Mutat. 2005;25:225–231. doi: 10.1002/humu.20145. - DOI - PubMed
    1. Guay-Woodford LM, Desmond RA. Autosomal recessive polycystic kidney disease: the clinical experience in North America. Pediatrics. 2003;111:1072–1080. doi: 10.1542/peds.111.5.1072. - DOI - PubMed

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