State of the science and ethical considerations for preimplantation genetic testing for monogenic cystic kidney diseases and ciliopathies

WS Thompson, SN Babayev… - Journal of the …, 2023 - journals.lww.com
There is a broad phenotypic spectrum of monogenic polycystic kidney diseases (PKD).
These disorders often involve cilia-related genes and lead to the development of fluid-filled …

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 …

A novel monogenic preimplantation genetic testing strategy for sporadic polycystic kidney caused by de novo PKD1 mutation

H Shi, W Niu, Y Liu, H Jin, W Song, S Shi… - Clinical …, 2021 - Wiley Online Library
Autosomal dominant hereditary polycystic kidney disease (ADPKD) is the most common
inherited kidney disease that causes end‐stage renal disease and kidney failure …

Preimplantation genetic diagnosis counseling in autosomal dominant polycystic kidney disease

EL Murphy, ML Droher, MS DiMaio, NK Dahl - American Journal of Kidney …, 2018 - Elsevier
Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common
hereditary forms of chronic kidney disease. Mutations within PKD1 or PKD2 lead to …

New insights into cystic kidney diseases

T Mochizuki, S Makabe, Y Aoyama… - Recent Advances in the …, 2018 - karger.com
Hereditary cystic kidney diseases are considered as “ciliopathies” caused by abnormalities
of the “primary cilia” situated on the tubules. As a result of dysplasia and dysfunction of cilia …

Polycystic kidney disease

AY Tan, J Blumenfeld, H Rennert - Molecular Pathology in Clinical …, 2016 - Springer
Polycystic kidney disease (PKD) is a group of monogenic disorders that result in renal cyst
development, progressive chronic kidney disease, and are associated with extrarenal …

Combined preimplantation genetic testing for autosomal dominant polycystic kidney disease: consequences for embryos available for transfer

P Mir Pardo, JA Martínez-Conejero, J Martín, C Simón… - Genes, 2020 - mdpi.com
Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary
kidney disease and presents with genetic and clinical heterogeneity. ADPKD can also …

[PDF][PDF] Autosomal dominant polycystic kidney disease

S Somlo, AB Chapman - Schrier's Diseases of the Kidney, edited by …, 2012 - nephros.gr
Autosomal dominant polycystic kidney disease (ADPKD; MIM 173990) is the most common
hereditary renal disease occurring in 1: 400 to 1: 1000 individuals. It accounts for over 90 …

Preimplantation genetic diagnosis of autosomal dominant polycystic kidney disease applied in China

C Zhou, C Mei, C Xue - American Journal of Kidney Diseases, 2018 - ajkd.org
Murphy et al 1 state that patients with autosomal dominant polycystic kidney disease
(ADPKD) of childbearing potential could benefit from preimplantation genetic diagnosis …

Renal cystic disease and associated ciliopathies

KO Kagan, A Dufke, U Gembruch - Current opinion in obstetrics …, 2017 - journals.lww.com
Renal cystic disease and associated ciliopathies : Current Opinion in Obstetrics and
Gynecology Renal cystic disease and associated ciliopathies : Current Opinion in Obstetrics …