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Hot Topics of the Day are picked by experts to capture the latest information and publications on public health genomics and precision health for various diseases and health topics. Sources include published scientific literature, reviews, blogs and popular press articles.

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29 hot topic(s) found with the query "Polycystic kidney disease"

Exome Sequencing of a Clinical Population for Autosomal Dominant Polycystic Kidney Disease
AR Chang et al, JAMA, December 27, 2022 (Posted: Dec 27, 2022 0PM)

What is the genetic basis and phenotypic expression of autosomal dominant polycystic kidney disease (ADPKD) within a single regional health system in the US? In this retrospective observational study that included 174?172 unselected participants, 109 of 111 patients (98%) with large deletions or truncating PKD1 and PKD2 variants had ADPKD, whereas only 24 of 77 patients (31.2%) with previously described “likely pathogenic” missense PKD1 variants had ADPKD. Exome sequencing demonstrated that 19 of 235 patients (8%) clinically diagnosed with ADPKD had variants in genes other than PKD1 and PKD2.

The effect of trichlormethiazide in autosomal dominant polycystic kidney disease patients receiving tolvaptan: a randomized crossover controlled trial
K Uchiyama et al, Scientific Reports, September 3, 2021 (Posted: Sep 04, 2021 8AM)

The vasopressin V2 receptor antagonist tolvaptan delays the progression of autosomal dominant polycystic kidney disease (ADPKD). However, some patients discontinue tolvaptan because of severe adverse aquaretic events. This open-label, randomized, controlled, counterbalanced, crossover trial investigated the effects of trichlormethiazide, a thiazide diuretic, in patients with ADPKD receiving tolvaptan (n?=?10) who randomly received antihypertensive therapy with or without trichlormethiazide for 12 weeks.

Genomic diagnostics in polycystic kidney disease: an assessment of real-world use of whole-genome sequencing
AC Mallawarachi et al, EJHG, January 12, 2021 (Posted: Jan 13, 2021 9AM)

Most patients with atypical disease did not have clinical features that predicted likelihood of a genetic diagnosis. These results suggest clinicians should consider diagnostic genomics as part of their assessment in polycystic kidney disease, particularly in atypical disease.

Autosomal Dominant Polycystic Kidney Disease does not significantly alter major COVID-19 outcomes among veterans
X Cui et al, MEDRXIV, November 29, 2020 (Posted: Nov 29, 2020 7AM)

Matching clinical and genetic diagnoses in autosomal dominant polycystic kidney disease reveals novel phenocopies and potential candidate genes
R Shonauer et al, Eur J Hum Genetics, May 13, 2020 (Posted: May 14, 2020 8AM)

Population data improves variant interpretation in autosomal dominant polycystic kidney disease.
Mallawaarachchi Amali C et al. Genetics in medicine : official journal of the American College of Medical Genetics 2018 Oct (Posted: Oct 30, 2018 0PM)

Causes of Chronic Kidney Disease
Include a genetic disorder, polycystic kidney disease Brand (Posted: May 16, 2018 11AM)

Preimplantation Genetic Diagnosis Counseling in Autosomal Dominant Polycystic Kidney Disease.
Murphy Erin L et al. American journal of kidney diseases : the official journal of the National Kidney Foundation 2018 Mar (Posted: Apr 04, 2018 10AM)

Tolvaptan and Autosomal Dominant Polycystic Kidney Disease.
Ingelfinger Julie R et al. The New England journal of medicine 2017 Nov (20) 1988-1989 (Posted: Nov 16, 2017 8AM)

Tolvaptan in Later-Stage Autosomal Dominant Polycystic Kidney Disease
VE Torres et al, NEJM, Nov 3, 2017 (Posted: Nov 04, 2017 0PM)

Tolvaptan and Autosomal Dominant Polycystic Kidney Disease
JR Inglefinger, NEJM, Nov 3, 2017 (Posted: Nov 04, 2017 0PM)

Autosomal Dominant Polycystic Kidney Disease: A Path Forward.
Rangan Gopala K et al. Seminars in nephrology 2015 Nov (6) 524-37 (Posted: Jan 06, 2016 5PM)

KHA-CARI Autosomal Dominant Polycystic Kidney Disease Guideline: Imaging Approaches for Diagnosis.
Mai Jun et al. Seminars in nephrology 2015 Nov (6) 538-544.e17 (Posted: Jan 06, 2016 5PM)

KHA-CARI Autosomal Dominant Polycystic Kidney Disease Guideline: Screening for Polycystic Kidney Disease.
Rangan Gopala K et al. Seminars in nephrology 2015 Nov (6) 557-564.e6 (Posted: Jan 06, 2016 5PM)

KHA-CARI Autosomal Dominant Polycystic Kidney Disease Guideline: Monitoring Disease Progression.
Mai Jun et al. Seminars in nephrology 2015 Nov (6) 565-571.e18 (Posted: Jan 06, 2016 5PM)

KHA-CARI Autosomal Dominant Polycystic Kidney Disease Guideline: Diet and Lifestyle Management.
Campbell Katrina L et al. Seminars in nephrology 2015 Nov (6) 572-581.e17 (Posted: Jan 06, 2016 5PM)

KHA-CARI Autosomal Dominant Polycystic Kidney Disease Guideline: Pharmacological Management.
Mallett Andrew et al. Seminars in nephrology 2015 Nov (6) 582-589.e17 (Posted: Jan 06, 2016 5PM)

KHA-CARI Autosomal Dominant Polycystic Kidney Disease Guideline: Psychosocial Care.
Tong Allison et al. Seminars in nephrology 2015 Nov (6) 590-594.e5 (Posted: Jan 06, 2016 5PM)

KHA-CARI Autosomal Dominant Polycystic Kidney Disease Guideline: Management of Renal Stone Disease.
Mallett Andrew et al. Seminars in nephrology 2015 Nov (6) 603-606.e3 (Posted: Jan 06, 2016 5PM)

KHA-CARI Autosomal Dominant Polycystic Kidney Disease Guideline: Management of Intracranial Aneurysms.
Lee Vincent W et al. Seminars in nephrology 2015 Nov (6) 612-617.e20 (Posted: Jan 06, 2016 5PM)

KHA-CARI Autosomal Dominant Polycystic Kidney Disease Guideline: Management of Polycystic Liver Disease.
Savige Judy et al. Seminars in nephrology 2015 Nov (6) 618-622.e5 (Posted: Jan 06, 2016 5PM)

KHA-CARI Autosomal Dominant Polycystic Kidney Disease Guideline: Genetic Testing for Diagnosis.
Tchan Michel et al. Seminars in nephrology 2015 Nov (6) 545-549.e2 (Posted: Jan 06, 2016 5PM)

Progression of autosomal dominant kidney disease: measurement of the stage transitions of chronic kidney disease.
Blanchette Christopher M et al. Drugs Context 2015 212275 (Posted: Aug 04, 2015 2PM)

Comprehensive PKD1 and PKD2 Mutation Analysis in Prenatal Autosomal Dominant Polycystic Kidney Disease.
Audrézet Marie-Pierre et al. J. Am. Soc. Nephrol. 2015 Jul 2. (Posted: Aug 04, 2015 2PM)

The PROPKD Score: A New Algorithm to Predict Renal Survival in Autosomal Dominant Polycystic Kidney Disease.
Cornec-Le Gall Emilie et al. J. Am. Soc. Nephrol. 2015 Jul 6. (Posted: Aug 04, 2015 2PM)

Autosomal dominant polycystic kidney disease: the changing face of clinical management.
Ong Albert C M et al. Lancet 2015 May 16. (9981) 1993-2002 (Posted: Aug 04, 2015 2PM)

Identifying and integrating consumer perspectives in clinical practice guidelines on autosomal dominant polycystic kidney disease.
Tong Allison et al. Nephrology (Carlton) 2015 Jul 31. (Posted: Aug 04, 2015 2PM)

Interventions for preventing the progression of autosomal dominant polycystic kidney disease.
Bolignano Davide et al. Cochrane Database Syst Rev 2015 CD010294 (Posted: Aug 04, 2015 2PM)

Autosomal recessive polycystic kidney disease
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)


Disclaimer: Articles listed in Hot Topics of the Day are selected by Public Health Genomics Branch to provide current awareness of the scientific literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the Clips, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
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