Polycystic kidney disease

C Bergmann, LM Guay-Woodford, PC Harris… - Nature reviews Disease …, 2018 - nature.com
Cystic kidneys are common causes of end-stage renal disease, both in children and in
adults. Autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive …

Genetics of autosomal recessive polycystic kidney disease and its differential diagnoses

C Bergmann - Frontiers in pediatrics, 2018 - frontiersin.org
Autosomal recessive polycystic kidney disease (ARPKD) is a hepatorenal fibrocystic
disorder that is characterized by enlarged kidneys with progressive loss of renal function …

Early and severe polycystic kidney disease and related ciliopathies: an emerging field of interest

C Bergmann - Nephron, 2019 - karger.com
Early and severe forms of polycystic kidney disease (PKD) do already manifest during
childhood or adolescence. They are characterized by enlarged kidneys and diminished …

[HTML][HTML] The genetics of autosomal recessive polycystic kidney disease (ARPKD)

P Goggolidou, T Richards - Biochimica et Biophysica Acta (BBA)-Molecular …, 2022 - Elsevier
ARPKD is a genetically inherited kidney disease that manifests by bilateral enlargement of
cystic kidneys and liver fibrosis. It shows a range of severity, with 30% of individuals dying …

Autosomal recessive polycystic kidney disease: the prototype of the hepato-renal fibrocystic diseases

LM Guay-Woodford - Journal of pediatric genetics, 2014 - thieme-connect.com
Autosomal recessive polycystic kidney disease (ARPKD) is a severe, typically early onset
form of renal cystic disease. The care of ARPKD patients has traditionally been the purview …

Cystic kidney disease: a primer

MT Cramer, LM Guay-Woodford - Advances in Chronic Kidney Disease, 2015 - Elsevier
Renal cystic diseases encompass a broad group of disorders with variable phenotypic
expression. Cystic disorders can present during infancy, childhood, or adulthood. Often, but …

[HTML][HTML] A novel model of autosomal recessive polycystic kidney questions the role of the fibrocystin C-terminus in disease mechanism

P Outeda, L Menezes, EA Hartung, S Bridges, F Zhou… - Kidney international, 2017 - Elsevier
Autosomal recessive polycystic kidney disease (OMIM 263200) is a serious condition of the
kidney and liver caused by mutations in a single gene, PKHD1. This gene encodes …

Rationale, design and objectives of ARegPKD, a European ARPKD registry study

K Ebner, M Feldkoetter, G Ariceta, C Bergmann… - BMC nephrology, 2015 - Springer
Background Autosomal recessive polycystic kidney disease (ARPKD) is a rare but frequently
severe disorder that is typically characterized by cystic kidneys and congenital hepatic …

Cystin genetic variants cause autosomal recessive polycystic kidney disease associated with altered Myc expression

C Yang, N Harafuji, AK O'Connor, RA Kesterson… - Scientific Reports, 2021 - nature.com
Mutation of the Cys1 gene underlies the renal cystic disease in the Cys1 cpk/cpk (cpk)
mouse that phenocopies human autosomal recessive polycystic kidney disease (ARPKD) …

The future of polycystic kidney disease research—as seen by the 12 Kaplan awardees

C Antignac, JP Calvet, GG Germino… - Journal of the …, 2015 - journals.lww.com
Polycystic kidney disease (PKD) is one of the most common life-threatening genetic
diseases. Jared J. Grantham, MD, has done more than any other individual to promote PKD …