Results 71 to 80 of about 21,454 (214)

Pain in Autosomal Dominant Polycystic Kidney Disease [PDF]

European Medical Journal Nephrology, 2014
Autosomal dominant polycystic kidney disease (ADPKD) is an inherited disorder affecting 1 in 1,000 people and is responsible for 10% of cases of end-stage renal disease.
Mariusz Niemczyk
doaj  

Fetal polycystic kidney disease: Pathological overview

Journal of the Scientific Society, 2013
Polycystic kidney disease is a rare developmental anomaly inherited as autosomal dominant or autosomal recessive. It is characterized by cystic dilatation of the collecting ducts frequently associated with hepatic involvement and progression to renal ...
Sunita B Patil, Madhura D Paricharak, Deepak G Paricharak, S S More   +3 more
doaj   +1 more source

Diagnostic and Therapeutic Roles of Extracellular Vesicles in Chronic Kidney Disease: A Systematic Review

Journal of Extracellular Vesicles, Volume 15, Issue 5, May 2026.
This systematic review compiles and analyses 364 studies on chronic kidney disease (CKD) that investigated extracellular vesicles (EVs) for diagnostic and therapeutic applications. By systematically categorizing data according to EV source and cargo, it provides an integrated overview of EV application for CKD, highlighting common approaches and shared
Tunahan Ergunay, Alessia Brossa, Benedetta Bussolati   +2 more
wiley   +1 more source

Kidney Function and Plasma Copeptin Levels in Healthy Kidney Donors and Autosomal Dominant Polycystic Kidney Disease Patients [PDF]

, 2014
Background and objectives Plasma copeptin, a marker of arginine vasopressin, is elevated in patients with autosomal dominant polycystic kidney disease and predicts disease progression.
Else van den Berg, Debbie Zittema, Meijer, Esther, Bakker, Stephan J. L., Franssen, Casper F. M., Franssen, Casper F. M.; id_orcid, Casper F.M. Franssen, Gerjan Navis, Muller Kobold, Anneke C. ; id_orcid, Paul E. de Jong, Stephan J.L. Bakker, Navis, Gerjan, van den Berg, Else, de Jong, Paul E., Esther Meijer, Zittema, Debbie, Bakker, Stephan J. L.; id_orcid, Boertien, Wendy E., Wendy E. Boertien, Anneke C. Muller Kobold, Ron T. Gansevoort, Gansevoort, Ron T., Muller Kobold, Anneke C.   +22 more
core   +1 more source

Autosomal Dominant Polycystic Kidney Disease and Pericardial Effusion

Oman Medical Journal, 2018
The autosomal dominant polycystic kidney disease (ADPKD) accounts for one out of 400–1000 live births, being a hereditary disorder with cystic and noncystic manifestations as well as extrarenal involvement. The pericardial effusion (PE) in the context of
Guillermo Alberto Perez Fernandez, Montaser Y. Ismail   +1 more
doaj   +1 more source

Identification of a Novel De Novo Heterozygous SEC61A1 Variant in a Patient With Severe Congenital Neutropenia

Molecular Genetics &Genomic Medicine, Volume 14, Issue 5, May 2026.
Severe congenital neutropenia can be caused by rare SEC61A1 variants. We report a child with SCN showing granulocytic maturation arrest and abnormal immunophenotype, carrying a novel de novo SEC61A1 p.Trp379Arg variant, expanding the phenotypic and genetic spectrum of SEC61A1‐associated SCN.
Zixuan Wang, Hui Jing, Yuhan Chen, Ling Zhong, Jiyun Yang   +4 more
wiley   +1 more source

Estudo clínico e molecular da doença renal policística autossômica dominante em duas famílias [PDF]

, 2000
Dissertação (mestrado) - Universidade Federal de Santa Catarina, Centro de Ciências da Saúde.Objetivos: Verificar a associação de variáveis clínicas para insuficiência renal crônica e a origem da mutação gênica em duas famílias portadoras de Doença Renal
Dias, Tânia Lúcia Viana
core  

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

Progression of autosomal dominant kidney disease: measurement of the stage transitions of chronic kidney disease

, 2015
Background: Autosomal dominant polycystic kidney disease (ADPKD) is a progressive genetic disorder characterized by the development of numerous kidney cysts that result in kidney failure.
Nancy Lin, Xiangmei Gu, Christopher M Blanchette, Britt Newsome, Deborah Lubeck, Sandro Rossetti, Benjamin Gutierrez, Caihua Liang, Deborah P Lubeck, Ciahua Liang, Sandro Rossett, Christopher Blanchette, Nancy D Lin   +12 more
core   +1 more source

Autosomal Dominant Tubulointerstitial Kidney Disease Clinical Trial Simulator: Case Reports of Model‐Informed Drug Development

CPT: Pharmacometrics &Systems Pharmacology, Volume 15, Issue 5, May 2026.
ABSTRACT Autosomal Dominant Tubulointerstitial Kidney Disease (ADTKD) is the third most common inherited monogenic kidney disorder. Mutations in UMOD and MUC1 account for most cases, with the disease characterized by progressive eGFR decline leading to kidney failure. No disease‐modifying therapies exist, and transplantation is the only current option.
Shyam S. Ramesh, Mark Rogge, Jongjin Kim, Sanghoon Kang, Kendrah Kidd, Adrienne Williams, Julie Roignot, Katherine Blakeslee, Anthony J. Bleyer, Sarah Kim   +9 more
wiley   +1 more source