Results 81 to 90 of about 2,428 (197)

An in vivo study of novel genetic modifiers in autosomal recessive polycystic kidney disease (ARPKD) [PDF]

A thesis submitted in partial fulfilment of the requirement of the University of Wolverhampton for the degree of Doctor of Philosophy.Autosomal Recessive Polycystic Kidney Disease (ARPKD) is a rare genetic disorder that manifests with bilaterally ...
Malik, Soniya Arshad
core   +1 more source

Point‐of‐Care Kidney Ultrasonography in Pediatric Nephrology: Current Evidence and Clinical Relevance

International Journal of Nephrology, Volume 2026, Issue 1, 2026.
Point‐of‐care ultrasonography (POCUS) has revolutionized pediatric healthcare by offering immediate, bedside diagnostic capabilities that enhance clinical decision‐making and patient management. This comprehensive review examines the impact and necessity of POCUS in assessing renal conditions in children.
Mahboube Bahroudi, Ali Asadifar, Mastaneh Moghtaderi, Srijoni Sengupta   +3 more
wiley   +1 more source

Safe and Early Primary Closure of Open Abdomen in Pediatric Liver Transplantation Using a Doppler‐Guided Tension Relief Strategy and Enhanced Wound Environment

Journal of Transplantation, Volume 2026, Issue 1, 2026.
Pediatric liver transplantation (LT) with large‐for‐size (LFS) grafts frequently necessitates open abdomen (OA) management due to donor–recipient graft size mismatch, increasing the risk of delayed closure and frequently requires the use of permanent prosthetic materials, together compounding the risk of postoperative infection.
Michael Gurevich, Tomer Mendelson, Haya Fischer, Elhanan Nahum, Avichai Weissbach, Yael Glassberg Mozer, Orith Waisbourd-Zinman, Sigal Aizner, Eviatar Nesher, Moris Topaz, Richa Sharma   +10 more
wiley   +1 more source

Functional correction of renal defects in a mouse model for ARPKD through expression of the cloned wild-type Tg737 cDNA [PDF]

, 1996
Functional correction of renal defects in a mouse model for ARPKD through expression of the cloned wild-type Tg737 cDNA. Autosomal recessive polycystic kidney disease (ARPKD) is characterized by the formation of large collecting tubule and ductular cysts
Wilkinson, J. Erby, Yoder, Bradley K., Woychik, Richard P., Avner, Ellis D., Sommardahl, Carla, Sweeney, William E., Michaud, Edward J., Richards, William G.   +7 more
core   +1 more source

Prenatal Recurrence of Ductal Plate Malformations Leads to PKHD1 Variant Reclassification

Prenatal Diagnosis, Volume 45, Issue 12, Page 1671-1674, November 2025.
ABSTRACT Ductal plate malformations (DPM) encompass a spectrum of congenital liver disorders characterized by abnormal bile duct development, often associated with conditions such as Caroli disease. Variants in the PKHD1 gene cause a wide spectrum of DPM, but genotype–phenotype correlations remain challenging.
Mario Abaji, Laurent Nasca, Marie‐Pierre Audrezet, Bénédicte Gerard, Xavier Vanhoye, Cécile Chau, Claude D’Ercole, Annie Levy‐Mozziconacci   +7 more
wiley   +1 more source

A Longitudinal Case Study of Renal Cyst Progression and Regression in Trisomy 13

Clinical Case Reports, Volume 13, Issue 9, September 2025.
Multiple T2‐weighted high‐signal‐intensity structures were observed in both kidneys accompanied by bilateral renal enlargement in a male neonate with trisomy 13. ABSTRACT Trisomy 13 is a chromosomal disorder frequently associated with congenital anomalies, including polycystic kidney disease (PKD).
Fumiko Yamabe, Takahiro Shindo, Kentaro Haneda, Yoshiyuki Namai, Yutaka Harita   +4 more
wiley   +1 more source

A case report of autosomal recessive polycystic kidney disease with noncompaction of ventricular myocardium: coincidence or different manifestations of ciliopathy?

BMC Nephrology
Background Autosomal recessive polycystic kidney disease (ARPKD) is a rare inherited cystic disease characterized by bilateral renal cyst formation and congenital liver fibrosis.
Weiran Zhou, Qingxia Du, Qinghua Liu, Xiaofang Liu, Lei Li, Hongxia Zhang   +5 more
doaj   +1 more source

An uncommon cause of portal hypertension in a toddler

International Journal of Advanced Medical and Health Research, 2017
Autosomal recessive polycystic kidney disease (ARPKD) affects the liver and the kidney. Renal involvement presents early in life, whereas hepatic involvement manifests slightly later with portal hypertension.
Sudipta Mohakud, Saraswata Das, Pradeep Sharma, Lipsa Das, Suprava Naik, N Deep   +5 more
doaj   +1 more source

Genetics of Autosomal Recessive Polycystic Kidney Disease and Its Differential Diagnoses

Frontiers in Pediatrics, 2018
Autosomal recessive polycystic kidney disease (ARPKD) is a hepatorenal fibrocystic disorder that is characterized by enlarged kidneys with progressive loss of renal function and biliary duct dilatation and congenital hepatic fibrosis that leads to portal
Carsten Bergmann, Carsten Bergmann
doaj   +1 more source

Purinergic Receptors Profile in the ARPKD Cystic Epithelia

The FASEB Journal, 2018
Polycystic kidney diseases (PKD) are a group of inherited nephropathies marked with the formation of fluid‐filled cysts along the nephron. Growing evidence suggests that autocrine and paracrine effects of purinergic signaling via P2 receptors could detrimentally contribute to cyst expansion.
Oleg Palygin, Daria V. Ilatovskaya, Vladislav Levchenko, Tengis Pavlov, Alexander Staruschenko   +4 more
openaire   +1 more source