Article
Medicine, General & Internal
Ahsan Alam, Emilie Cornec-Le Gall, Ronald D. Perrone
Summary: This article describes autosomal dominant polycystic kidney disease, its signs and symptoms, diagnosis, and treatment options.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
(2023)
Review
Biochemistry & Molecular Biology
Claudio Ponticelli, Gabriella Moroni, Francesco Reggiani
Summary: Autosomal-Dominant Polycystic Kidney Disease (ADPKD) is a genetic disorder caused by mutations in PKD1 or PKD2 genes. The involvement of autophagy in ADPKD remains a subject of investigation, with potential implications on cyst formation and fibrosis. Autophagy inducers have shown promising results in preclinical studies and may provide a potential avenue for future investigations.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Genetics & Heredity
Yasuo Suzuki, Kan Katayama, Ryosuke Saiki, Yosuke Hirabayashi, Tomohiro Murata, Eiji Ishikawa, Masaaki Ito, Kaoru Dohi
Summary: This study analyzed the genes of 50 ADPKD patients and identified mutations in PKD1, PKD2, and GANAB genes, which can assist in diagnosis and treatment of the disease.
Article
Gastroenterology & Hepatology
Bernhard Schlevogt, Vincent Schlieper, Jana Krader, Rita Schroeter, Thomas Wagner, Matthias Weiand, Andree Zibert, Hartmut H. Schmidt, Carsten Bergmann, Pavel Nedvetsky, Michael P. Krahn
Summary: In this study, a variant in the SEC61A1 gene was identified to be associated with the development of polycystic liver disease. The mutant SEC61A1 protein was shown to undergo enhanced proteasomal degradation, resulting in impaired synthesis of polycystin-2.
LIVER INTERNATIONAL
(2023)
Article
Urology & Nephrology
Cortney N. Steele, Ester S. Oh, Wei Wang, Heather Farmer-Bailey, Berenice Y. Gitomer, Michel Chonchol, Kristen L. Nowak
Summary: Cerebrovascular dysfunction, characterized by increased brain pulsatile flow, reduced cerebrovascular reactivity, and cerebral hypoperfusion, precedes the onset of dementia and is linked to cognitive dysfunction. Patients with autosomal dominant polycystic kidney disease (ADPKD) have a higher risk of dementia and are more likely to develop intracranial aneurysms, but cerebrovascular function in ADPKD patients has not been previously characterized.
AMERICAN JOURNAL OF NEPHROLOGY
(2023)
Review
Pharmacology & Pharmacy
Guangying Shao, Shuai Zhu, Baoxue Yang
Summary: ADPKD is a common hereditary kidney disease characterized by progressively enlarged cysts that destroy renal function, potentially leading to ESRD. Herbal medicines have shown potential in inhibiting cyst development and ADPKD progression, providing new insights for clinical therapeutic strategies.
FRONTIERS IN PHARMACOLOGY
(2021)
Article
Transplantation
Charles J. Blijdorp, David Severs, Usha M. Musterd-Bhaggoe, Ronald T. Gansevoort, Robert Zietse, Ewout J. Hoorn
Summary: In patients with ADPKD, lower serum bicarbonate levels within the normal range are associated with worse kidney outcomes, independent of established prognostic factors for ADPKD and urine ammonium excretion. This suggests that serum bicarbonate may be a valuable addition to prognostic models for ADPKD and should be further explored as a potential treatment target.
NEPHROLOGY DIALYSIS TRANSPLANTATION
(2021)
Article
Biochemistry & Molecular Biology
Tomoki Kimura, Haruna Kawano, Satoru Muto, Nobuhito Muramoto, Toshiaki Takano, Yan Lu, Hidetaka Eguchi, Hiroo Wada, Yasushi Okazaki, Hisamitsu Ide, Shigeo Horie
Summary: This study investigated the prognostic utility of genetic mutations in predicting renal function outcomes in Japanese patients with autosomal dominant polycystic kidney disease (ADPKD). The results showed that PKD1 mutation is a biomarker for predicting renal prognosis in ADPKD patients.
Review
Nutrition & Dietetics
Lauren Pickel, Ioan-Andrei Iliuta, James Scholey, York Pei, Hoon-Ki Sung
Summary: Autosomal dominant polycystic kidney disease (ADPKD) is characterized by progressive growth of renal cysts and loss of functional nephrons. Evidence suggests that dietary interventions such as caloric restriction, intermittent fasting, and ketogenic diets have the potential to slow disease progression and confer metabolic benefits.
ADVANCES IN NUTRITION
(2022)
Article
Biochemistry & Molecular Biology
Johannes Leierer, Paul Perco, Benedikt Hofer, Susanne Eder, Alexander Dzien, Julia Kerschbaum, Michael Rudnicki, Gert Mayer
Summary: Changes in protein concentrations in the body fluids of ADPKD patients mainly involve dysregulation of various molecular processes, including markers such as EGF, APLN, VEGFA, and AGT. These markers are significantly correlated with renal function and disease progression.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Urology & Nephrology
Matthew B. Lanktree, Amirreza Haghighi, Ighli di Bari, Xuewen Song, York Pei
Summary: Autosomal dominant polycystic kidney disease is mainly caused by mutations in PKD1 and PKD2 genes, but may also be caused by mutations in other endoplasmic reticulum protein biosynthetic pathway genes or somatic mosaicism. Genetic testing aids in diagnosis and prognosis, but screening for PKD1 mutations is challenging, and conventional Sanger sequencing is limited in elucidating the causes of atypical polycystic kidney disease.
CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
(2021)
Article
Urology & Nephrology
Kyongtae T. Bae, Cheng Tao, Robert Feldman, Alan S. L. Yu, Vicente E. Torres, Ronald D. Perrone, Arlene B. Chapman, Godela Brosnahan, Theodore I. Steinman, William E. Braun, Michal Mrug, William M. Bennett, Peter C. Harris, Avantika Srivastava, Douglas P. Landsittel, Kaleab Z. Abebe
Summary: This study aimed to evaluate the associations of polycystic liver progression with other disease progression variables and classify liver progression on the basis of patient's age, height-adjusted liver cystic volume, and height-adjusted liver volume. The use of height-adjusted liver cystic volume showed greater separations in volumetric progression of polycystic liver disease.
CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY
(2022)
Article
Urology & Nephrology
Jessica T. T. Camargo, Camilo A. Gonzalez, Lina Herrera, Nancy Yomayusa-Gonzalez, Milciades Ibanez, Ana M. M. Valbuena-Garcia, Lizbeth Acuna-Merchan
Summary: This study investigated the prevalence, geographical location, and ethnic groups of ADPKD patients undergoing dialysis or kidney transplant in Colombia between 2015 and 2019. The prevalence of ADPKD was lower compared to Europe and the US, and further genetic prevalence studies may be needed in some states with higher prevalence.
Review
Medicine, General & Internal
Jing Xu, Cheng Xue, Xiaodong Wang, Lei Zhang, Changlin Mei, Zhiguo Mao
Summary: ADPKD, the most common inherited kidney disease worldwide, is mainly influenced by genes PKD1 and PKD2. Epigenetic modifications, particularly chromatin methylation and histone modifications, play a significant role in the development and progression of ADPKD. More research is needed to better understand and potentially treat the methylation abnormalities in ADPKD.
FRONTIERS IN MEDICINE
(2022)
Article
Biochemistry & Molecular Biology
Jana Reiterova, Vladimir Tesar
Summary: ADPKD is the most common genetic renal disease caused by mutations in PKD1 and PKD2 genes, affecting various cellular processes. Multiple molecular pathways are involved in cystogenesis, including reduction of calcium ions, induction of sAMP, and activation of the MAPK/ERK pathway. Metabolic alterations and drug therapy are hot topics in research.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
