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Empowering women at the heart of autosomal dominant polycystic kidney disease: Addressing unique challenges gender-sensitive approach

Women's Health
Autosomal dominant polycystic kidney disease is a genetic disorder characterized by the progressive development of renal cysts, leading to end-stage renal disease in a significant proportion of affected individuals. While the disease affects both men and
Micaela Petrone, Francesca Tunesi, Martina Catania, Camilla Gerosa, Sara Farinone, Liliana Italia De Rosa, Kristiana Kola, Matteo Brambilla Pisoni, Paola Maiucchi, Paolo Manunta, Giuseppe Vezzoli, Maria Teresa Sciarrone Alibrandi   +11 more
doaj   +1 more source

Incidental renal cell carcinoma presenting in a renal transplant recipient with autosomal dominant polycystic kidney disease: a case report

Journal of Medical Case Reports, 2012
Introduction We report an instructive case of incidental renal cell carcinoma in a patient with autosomal dominant polycystic kidney disease who underwent simultaneous bilateral native nephrectomy and living donor renal transplantation. Case presentation
Misumi Toshihiro, Ide Kentaro, Onoe Takashi, Banshodani Masataka, Tazawa Hirofumi, Teraoka Yoshifumi, Hotta Ryuichi, Yamashita Masahiro, Tashiro Hirotaka, Ohdan Hideki   +9 more
doaj   +1 more source

Personalized Models of Biological Barriers and Their Diseases: Recent Progress with Organs‐On‐Chips

Advanced Biology, Volume 10, Issue 2, February 2026.
Buck and Bugter et al. explore the architectural diversity and physiological functions of human barrier systems and reveal how organ‐on‐chip platforms, particularly those integrating patient‐derived cells, are advancing barrier disease modeling. They highlight how emerging biological and technological advances can be used to bridge the gap between ...
Franziska Buck, Jeroen Bugter, Gizem Yorukoglu, Mina Kazemzadeh Dastjerd, Thomas E. Winkler   +4 more
wiley   +1 more source

Chinese clinical practice guide for autosomal dominant polycystic kidney disease

Linchuang shenzangbing zazhi, 2019
常染色体显性多囊肾病(autosomal dominant polycystic kidney disease, ADPKD)是最常见的遗传性肾病,患病率为1/400～1/1000[1]。ADPKD主要致病基因有两个,PKD1和PKD2,其突变导致疾病分别约占发病人群的85%和15%[2-3]。该病为常染色体显性遗传病,子代发病机率为50%。患者多在成年后出现双侧肾脏囊肿,随年龄增长,逐渐损害肾脏结构和功能[4 ...
Expert Committee on Clinical Practice Guidelines for Autosomal Dominant Polycystic Kidney Disease
doaj  

Reverse Phenotyping Maternal Cystic Kidney Disease by Diagnosis in a Newborn: Case Report and Literature Review on Neonatal Cystic Kidney Diseases

Acta Medica Lituanica, 2021
Kidney cysts are the most common kidney lesion, while congenital kidney cysts are mostly found in pediatric population. Neonatal kidney cysts can develop due to fetal malformations, rare genetic disorders or can be acquired which is very rare.
Dovilė Ruzgienė, Meda Sutkevičiūtė, Birutė Burnytė, Kristina Grigalionienė, Augustina Jankauskienė   +4 more
doaj   +1 more source

Mortality Patterns and Phenotypic Clusters in Trisomy 13: A Population‐Based Study From Japan

American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 329-338, February 2026.
ABSTRACT Trisomy 13, the third most common autosomal trisomy after trisomy 21 and trisomy 18, is associated with a significantly high infant mortality rate. However, large‐scale studies examining causes of death in trisomy 13 remain scarce. Therefore, we aimed to better understand the mortality patterns.
Narumi Kato, Naho Morisaki, Akinori Moriichi   +2 more
wiley   +1 more source

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

AMPK and Polycystic Kidney Disease Drug Development: An Interesting Off-Target Target

Frontiers in Medicine, 2022
Autosomal Dominant Polycystic Kidney Disease is a genetic disease that causes dramatic perturbations of both renal tissue architecture and of a multitude of cellular signaling pathways.
Michael J. Caplan
doaj   +1 more source

Hypertension in autosomal dominant polycystic kidney disease: a meta-analysis [PDF]

, 2016
CONTEXT: Autosomal dominant polycystic kidney disease (ADPKD) is a common disorder that can cause hypertension during childhood, but the true prevalence of hypertension during childhood is not known.
Cuthell, O, Dudley, J, Langan, D, Marlais, M, Sinha, MD, Winyard, PJ   +5 more
core   +1 more source

PKD1 Duplicated regions limit clinical Utility of Whole Exome Sequencing for Genetic Diagnosis of Autosomal Dominant Polycystic Kidney Disease

Scientific Reports, 2019
Autosomal dominant polycystic kidney disease (ADPKD) is an inherited monogenic renal disease characterised by the accumulation of clusters of fluid-filled cysts in the kidneys and is caused by mutations in PKD1 or PKD2 genes.
Hamad Ali, F. Al-Mulla, N. Hussain, Medhat Naim, A. Asbeutah, A. Alsahow, Mohamed Abu-Farha, J. Abubaker, A. Al Madhoun, Sajjad Ahmad, P. Harris   +10 more
semanticscholar   +1 more source