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 …

Insights into autosomal dominant polycystic kidney disease from genetic studies

MB Lanktree, A Haghighi, I di Bari… - Clinical journal of the …, 2021 - journals.lww.com
Autosomal dominant polycystic kidney disease is the most common monogenic cause of
ESKD. Genetic studies from patients and animal models have informed disease …

ALG9 mutation carriers develop kidney and liver cysts

W Besse, AR Chang, JZ Luo, WJ Triffo… - Journal of the …, 2019 - journals.lww.com
Background Mutations in PKD1 or PKD2 cause typical autosomal dominant polycystic
kidney disease (ADPKD), the most common monogenic kidney disease. Dominantly …

Recent advances in the management of autosomal dominant polycystic kidney disease

FT Chebib, VE Torres - Clinical Journal of the American Society of …, 2018 - journals.lww.com
Autosomal dominant polycystic kidney disease (ADPKD), the most common monogenic
cause of ESKD, is characterized by relentless development of kidney cysts, hypertension …

Complexity and specificity of Sec61-channelopathies: human diseases affecting gating of the Sec61 complex

M Sicking, S Lang, F Bochen, A Roos, JPH Drenth… - Cells, 2021 - mdpi.com
The rough endoplasmic reticulum (ER) of nucleated human cells has crucial functions in
protein biogenesis, calcium (Ca2+) homeostasis, and signal transduction. Among the …

Presymptomatic screening for intracranial aneurysms in patients with autosomal dominant polycystic kidney disease

IM Sanchis, S Shukoor, MV Irazabal… - Clinical Journal of the …, 2019 - journals.lww.com
Results Ninety-four intracranial aneurysms were diagnosed in 75 of 812 (9%) patients who
underwent magnetic resonance angiography screening. Sex, age, race, and genotype were …

Update and review of adult polycystic kidney disease

GB Colbert, ME Elrggal, L Gaur, EV Lerma - Disease-a-Month, 2020 - Elsevier
Autosomal dominant polycystic kidney disease is a common cause of end stage kidney
disease. It is a progressive and unfortunately incurable condition that can lead to significant …

Epidemiology of autosomal dominant polycystic kidney disease in Olmsted County

T Suwabe, S Shukoor, AM Chamberlain… - Clinical Journal of the …, 2020 - journals.lww.com
Results The age-and sex-adjusted annual incidence of definite and likely ADPKD diagnosis
during 1980–2016 was 3.06 (95% CI, 2.52 to 3.60) per 100,000 person-years, which is 2.2 …

Pansomatostatin agonist pasireotide long-acting release for patients with autosomal dominant polycystic kidney or liver disease with severe liver involvement: a …

MC Hogan, JA Chamberlin, LE Vaughan… - Clinical Journal of the …, 2020 - journals.lww.com
Results Of 48 subjects randomized, 41 completed total liver volume measurements (n= 29
pasireotide long-acting release and n= 12 placebo). From baseline, there were− 99±189 …

Patients with protein-truncating PKD1 mutations and mild ADPKD

MB Lanktree, E Guiard, P Akbari… - Clinical Journal of the …, 2021 - journals.lww.com
Results Among 174 study patients with typical imaging patterns and protein-truncating PKD1
mutations, 32 (18%) were found to have mild disease on the basis of imaging results (ie …