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KHA-CARI Autosomal Dominant Polycystic Kidney Disease Guideline: Genetic Testing for Diagnosis

SEMINARS IN NEPHROLOGY (2015)

Journal

SEMINARS IN NEPHROLOGY

Volume 35, Issue 6, Pages 545-549

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W B SAUNDERS CO-ELSEVIER INC

DOI: 10.1016/j.semnephrol.2015.10.007

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Kidney Health Australia
Australian and New Zealand Society of Nephrology
Amgen Australia
Shire Australia Pty Ltd.

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What Is Autosomal Dominant Polycystic Kidney Disease?

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)

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Article Urology & Nephrology

Insights into Autosomal Dominant Polycystic Kidney Disease from Genetic Studies

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)

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Review Medicine, General & Internal

Cystic Kidney Diseases That Require a Differential Diagnosis from Autosomal Dominant Polycystic Kidney Disease (ADPKD)

Akinari Sekine, Sumi Hidaka, Tomofumi Moriyama, Yasuto Shikida, Keiji Shimazu, Eiji Ishikawa, Kiyotaka Uchiyama, Hiroshi Kataoka, Haruna Kawano, Mahiro Kurashige, Mai Sato, Tatsuya Suwabe, Shinya Nakatani, Tadashi Otsuka, Hirayasu Kai, Kan Katayama, Shiho Makabe, Shun Manabe, Wataru Shimabukuro, Koichi Nakanishi, Saori Nishio, Fumihiko Hattanda, Kazushige Hanaoka, Kenichiro Miura, Hiroki Hayashi, Junichi Hoshino, Ken Tsuchiya, Toshio Mochizuki, Shigeo Horie, Ichiei Narita, Satoru Muto

Summary: Differential diagnosis between ADPKD and other cystic kidney diseases is important, with some diseases easily excluded using clinical information while others require genetic testing or additional information for diagnosis.

JOURNAL OF CLINICAL MEDICINE (2022)

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Article Urology & Nephrology

The genetic landscape of autosomal dominant polycystic kidney disease in Kuwait

Hamad Ali, Medhat Naim, Sarah R. Senum, Ali AlSahow, Yousif Bahbahani, Mohamed Abu-Farha, Jehad Abubaker, Anwar Mohammad, Adel Al-Hunayan, Akram M. Asbeutah, Mohamed Zayed, Sriraman Devarajan, Naser Hussain, Sumi Elsa John, Arshad Channanath, Thangavel Alphonse Thanaraj, Mohammad Al-Ali, Mustafa AlMousawi, Fahd Al-Mulla, Peter C. Harris

Summary: This study describes the genetic landscape of autosomal dominant polycystic kidney disease (ADPKD) in Kuwait, revealing the genetic heterogeneity and wide phenotypic spectrum of the disease. ADPKD genetic testing could improve patient care, but the hurdle of genetically unsolved cases needs to be overcome.

CLINICAL KIDNEY JOURNAL (2023)

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Review Nutrition & Dietetics

Dietary Interventions in Autosomal Dominant Polycystic Kidney Disease

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)

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Review Biochemistry & Molecular Biology

Autosomal Dominant Polycystic Kidney Disease: Is There a Role for Autophagy?

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)

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Review Pharmacology & Pharmacy

Applications of Herbal Medicine to Treat Autosomal Dominant Polycystic Kidney Disease

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)

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Article Medicine, General & Internal

Pleural Effusions on MRI in Autosomal Dominant Polycystic Kidney Disease

Jin Liu, Xiaorui Yin, Hreedi Dev, Xianfu Luo, Jon D. D. Blumenfeld, Hanna Rennert, Martin R. R. Prince

Summary: This study investigates the association between autosomal dominant polycystic kidney disease (ADPKD) and pleural effusion. Pleural effusions were observed in 21% of ADPKD subjects compared to 8% in controls. In a subpopulation controlling for renal function, 25% of ADPKD subjects had pleural effusions compared to 5% of controls.

JOURNAL OF CLINICAL MEDICINE (2023)

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Article Urology & Nephrology

Autosomal dominant polycystic kidney disease in Colombia

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.

BMC NEPHROLOGY (2023)

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Article Medicine, General & Internal

Exome Sequencing of a Clinical Population for Autosomal Dominant Polycystic Kidney Disease

Alexander R. Chang, Bryn S. Moore, Jonathan Z. Luo, Gino Sartori, Brian Fang, Steven Jacobs, Yoosif Abdalla, Mohammed Taher, David J. Carey, William J. Triffo, Gurmukteshwar Singh, Tooraj Mirshahi

Summary: This study reveals substantial genetic and phenotypic variability in autosomal dominant polycystic kidney disease (ADPKD) among patients within a regional health system in the US. In addition to PKD1 and PKD2, LOF variants in IFT140, GANAB, and HNF1B were associated with ADPKD diagnosis. Patients with a family history of ADPKD had a higher yield for genetic determinants of the disease.

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2022)

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Article Multidisciplinary Sciences

Weight loss and cystic disease progression in autosomal dominant polycystic kidney disease

Katharina Hopp, Victoria A. Catenacci, Nidhi Dwivedi, Timothy L. Kline, Wei Wang, Zhiying You, Dustin T. Nguyen, Kristen Bing, Bhavya Poudyal, Ginger C. Johnson, Matthew R. Jackman, Marsha Miller, Cortney N. Steele, Natalie J. Serkova, Paul S. MacLean, Raphael A. Nemenoff, Berenice Gitomer, Michel Chonchol, Kristen L. Nowak

Summary: This study demonstrates that both daily caloric restriction (DCR) and intermittent fasting (IMF) can lead to significant weight loss and slow cyst growth in ADPKD patients. DCR has better efficacy in weight loss compared to IMF, and patients showed higher adherence and tolerability to DCR.

ISCIENCE (2022)

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Article Biochemistry & Molecular Biology

Coregulation Analysis of Mechanistic Biomarkers in Autosomal Dominant Polycystic Kidney Disease

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)

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Review Medicine, General & Internal

Chromatin Methylation Abnormalities in Autosomal Dominant Polycystic Kidney Disease

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)

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Article Gastroenterology & Hepatology

A SEC61A1 variant is associated with autosomal dominant polycystic liver disease

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)

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Review Urology & Nephrology

How to Estimate Kidney Growth in Patients with Autosomal Dominant Polycystic Kidney Disease

Francisco Jose Borrego Utiel, Mario Espinosa Hernandez

Summary: Autosomal dominant polycystic kidney disease (ADPKD) is characterized by progressive kidney growth due to the development of cysts that lead to destruction of the surrounding parenchyma. Estimating kidney volume growth rate is crucial for predicting future decline in glomerular filtration and prognosis. However, there is no consensus on how to measure kidney volume growth, leading to potential prognostic errors. The Mayo Clinic classification is currently the most widely accepted prognostic model, but some aspects have not been thoroughly discussed. This review aims to present models for estimating kidney volume growth rate in ADPKD to improve their applicability in clinical practice.

JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2023)

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KDIGO recommendations for the evaluation of glycemic control in advanced chronic kidney disease reply

M. Luiza Caramori, Katherine R. Tuttle, Nikhil Tandon, David J. Tunnicliffe, Ian H. de Boer, Peter Rossing

KIDNEY INTERNATIONAL (2022)

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Kelly Lambert, Su Bahceci, Harriet Harrison, Maria Chan, Nicole Scholes-Robertson, David W. Johnson, Adela Yip, Andrea K. Viecelli

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Patients' Perspectives on Access to Dialysis and Kidney Transplantation in Rural Communities in Australia

Nicole Scholes-Robertson, Talia Gutman, Martin Howell, Jonathan C. Craig, Rachel Chalmers, Allison Tong

Summary: This study explored the perspectives of rural patients on access to kidney replacement therapy. The findings showed that rural patients face significant economic, logistical, and psychological obstacles, leaving them feeling vulnerable and confused. Addressing these issues requires policy changes and alternative models of health service delivery, in consultation with rural communities and affected families.

KIDNEY INTERNATIONAL REPORTS (2022)

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Allison Tong, Nicole Evangelidis, Amelie Kurnikowski, Michal Lewandowski, Philipp Bretschneider, Rainer Oberbauer, Amanda Baumgart, Nicole Scholes-Robertson, Tanja Stamm, Juan Jesus Carrero, Roberto Pecoits-Filho, Manfred Hecking

Summary: Nephrologists recognize the challenges faced by women with chronic kidney disease in accessing care, including social norms, disempowerment, lack of support, stereotyping by clinicians, and social and economic disadvantages. Addressing power differences, challenging patriarchal systems, and managing unconscious bias may improve equitable care and outcomes for all patients.

KIDNEY INTERNATIONAL REPORTS (2022)

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Unclassified white matter disorders: A diagnostic journey requiring close collaboration between clinical and laboratory services

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Summary: This study identified the genetic causes of unclassified white matter disorders through deep phenotyping and genome sequencing, and found that broad genomic testing is crucial for diagnosing white matter diseases.

EUROPEAN JOURNAL OF MEDICAL GENETICS (2022)

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Safety and tolerability of solifenacin in children and adolescents with overactive bladder- a systematic review

Gayathri Raman, David Tunnicliffe, Elise Lai, Trish Bennett, Patrina Caldwell

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Rosie O'Shea, Alasdair Wood, Chirag Patel, Hugh J. McCarthy, Amali Mallawaarachchi, Catherine Quinlan, Cas Simons, Zornitza Stark, Andrew J. Mallett

Summary: The majority of participants in this nephrology research genomics study chose to receive potential additional findings. Younger age of the family proband, family history of an alternate genetic disorder, and consenting by some multidisciplinary team members might impact participant choices.

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Perspectives of Nephrologists on Gender Disparities in Access to Kidney Transplantation

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KHA-CARI Autosomal Dominant Polycystic Kidney Disease Guideline: Genetic Testing for Diagnosis

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W B SAUNDERS CO-ELSEVIER INC

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