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 …

Autosomal dominant polycystic kidney disease

E Cornec-Le Gall, A Alam, RD Perrone - The Lancet, 2019 - thelancet.com
Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary
kidney disease and one of the most common causes of end-stage kidney disease. Multiple …

Genetic complexity of autosomal dominant polycystic kidney and liver diseases

E Cornec-Le Gall, VE Torres… - Journal of the American …, 2018 - journals.lww.com
Data indicate significant phenotypic and genotypic overlap, plus a common pathogenesis,
between two groups of inherited disorders, autosomal dominant polycystic kidney diseases …

Monoallelic mutations to DNAJB11 cause atypical autosomal-dominant polycystic kidney disease

E Cornec-Le Gall, RJ Olson, W Besse… - The American Journal of …, 2018 - cell.com
Autosomal-dominant polycystic kidney disease (ADPKD) is characterized by the progressive
development of kidney cysts, often resulting in end-stage renal disease (ESRD). This …

Prevalence estimates of polycystic kidney and liver disease by population sequencing

MB Lanktree, A Haghighi, E Guiard… - Journal of the …, 2018 - journals.lww.com
Background Estimating the prevalence of autosomal dominant polycystic kidney disease
(ADPKD) is challenging because of age-dependent penetrance and incomplete clinical …

A practical guide for treatment of rapidly progressive ADPKD with tolvaptan

FT Chebib, RD Perrone, AB Chapman… - Journal of the …, 2018 - journals.lww.com
In the past, the treatment of autosomal dominant polycystic kidney disease (ADPKD) has
been limited to the management of its symptoms and complications. Recently, the US Food …

Exome sequencing of a clinical population for autosomal dominant polycystic kidney disease

AR Chang, BS Moore, JZ Luo, G Sartori, B Fang… - Jama, 2022 - jamanetwork.com
Importance Most studies of autosomal dominant polycystic kidney disease (ADPKD)
genetics have used kidney specialty cohorts, focusing onPKD1andPKD2. These can lead to …

Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis

H Lemoine, L Raud, F Foulquier, JA Sayer… - The American Journal of …, 2022 - cell.com
Disorders of the autosomal dominant polycystic kidney disease (ADPKD) spectrum are
characterized by the development of kidney cysts and progressive kidney function decline …

A TGFβ-ECM-integrin signaling axis drives structural reconfiguration of the bile duct to promote polycystic liver disease

SH Waddell, Y Yao, P Olaizola, A Walker… - Science translational …, 2023 - science.org
The formation of multiple cysts in the liver occurs in a number of isolated monogenic
diseases or multisystemic syndromes, during which bile ducts develop into fluid-filled biliary …

Clinical management of polycystic liver disease

RMM van Aerts, LFM van de Laarschot, JM Banales… - Journal of …, 2018 - Elsevier
Clinical vignette A 41-year old female underwent a computed tomography (CT) scan in 2010
because of symptoms suggestive of appendicitis. Incidentally, multiple liver lesions …