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 …
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 …
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 …
between two groups of inherited disorders, autosomal dominant polycystic kidney diseases …
Monoallelic mutations to DNAJB11 cause atypical autosomal-dominant polycystic kidney disease
Autosomal-dominant polycystic kidney disease (ADPKD) is characterized by the progressive
development of kidney cysts, often resulting in end-stage renal disease (ESRD). This …
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 …
(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 …
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
Importance Most studies of autosomal dominant polycystic kidney disease (ADPKD)
genetics have used kidney specialty cohorts, focusing onPKD1andPKD2. These can lead to …
genetics have used kidney specialty cohorts, focusing onPKD1andPKD2. These can lead to …
Monoallelic pathogenic ALG5 variants cause atypical polycystic kidney disease and interstitial fibrosis
Disorders of the autosomal dominant polycystic kidney disease (ADPKD) spectrum are
characterized by the development of kidney cysts and progressive kidney function decline …
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 …
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 …
because of symptoms suggestive of appendicitis. Incidentally, multiple liver lesions …