Results 41 to 50 of about 4,765 (160)

Type IV choledochal cyst with polycystic kidney disease: a case report

BMC Gastroenterology, 2020
Background Choledochal cysts are divided into 5 types. Physicians believe that Caroli disease (which refers to type V biliary cysts) is a special type of biliary cyst caused by a mutation in the PKHD1 gene and is associated with autosomal recessive ...
Yuxin He, Zhuwen Yu, Weichang Chen
doaj   +1 more source

Kidney Disease Progression in Autosomal Recessive Polycystic Kidney Disease [PDF]

The Journal of Pediatrics, 2016
To define glomerular filtration rate (GFR) decline, hypertension (HTN), and proteinuria in subjects with autosomal recessive polycystic kidney disease (ARPKD) and compare with 2 congenital kidney disease control groups in the Chronic Kidney Disease in Children cohort.GFR decline (iohexol clearance), rates of HTN (ambulatory/casual blood pressures ...
Katherine M. Dell, Matthew Matheson, Erum A. Hartung, Bradley A. Warady, Susan L. Furth, Alvaro Muñoz, Allison Dart, Larry Greenbaum, Jens Goebel, Mark Mitsnefes, Joseph Flynn, Craig Wong, Sahar Fathallah, Isidro Salusky, Ora Yadin, Bruce Morgenstern, Tom Blydt-Hansen, Keefe Davis, Cynthia Pan, Amira Al-Uzri, Randall Jenkins, Anthony Portale, Mouin Seikaly, Martin Turman, Cynthia Wong, Steven Alexander, Colleen Hastings, Randall Jenkins, Nancy Rodig, William Harmon, Sharon Bartosh, Nadine Benador, Robert Mak, Ellen Wood, Randall Jenkins, Gary Lerner, Susan Massengill, Guillermo Hidalgo, Meredith Atkinson, Debbie Gipson, Poyyapakkam Srivaths, Joshua Samuels, Frederick Kaskel, Debora Mattosian, Yi Cai, Sharon Andreoli, Jeffrey Saland, Hiren Patel, Victoria Norwood, Rulan Parekh, Lisa Robinson, Susan Mendley, Marc Lande, George Schwartz, Patrick Brophy, Eunice John, Kiran Upadhyay, Maria Ferris, Tej Matoo, Juan Kupferman, Lynne Weiss, Craig Langman, Patricia Seo-Mayer, Kanwal Kher, Dmitry Samsonov   +64 more
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Renal lymphangiomatosis, a rare differential diagnosis for autosomal recessive polycystic kidney disease in pediatric patients

Radiology Case Reports, 2017
Renal lymphangiomatosis is a rare, benign malformation, characterized by developmental malformation of the perirenal, peripelvic, and intrarenal lymphatics.
Amna A. Kashgari, MD, Nabil Ozair, MD, Amin Al Zahrani, MD, Mohammed O. Al Otibi, MD, Khalid Al Fakeeh, MD   +4 more
doaj   +1 more source

Distinct roles of transcription factors EGL-46 and DAF-19 in specifying the functionality of a polycystin-expressing sensory neuron necessary for C. elegans male vulva location behavior [PDF]

, 2003
Caenorhabditis elegans polycystins LOV-1 and PKD-2 are expressed in the male-specific HOB neuron, and are necessary for sensation of the hermaphrodite vulva during mating. We demonstrate that male vulva location behavior and expression of lov-1 and pkd-2
Bürglin, Thomas R., Prétôt, René F., Sternberg, Paul W., Yu, Hui   +3 more
core   +1 more source

Polycystic kidney disease: Clues to pathogenesis [PDF]

, 1991
Autosomal-dominant polycystic kidney disease (ADPKD), largely neglected for several decades, has emerged in recent years as the renal disease most likely to be understood from the gene to the patient.
Gabow, Patricia A.
core   +1 more source

Delayed diagnosis of Townes‑Brocks syndrome with multicystic kidneys and renal failure caused by a novel SALL1 nonsense mutation: A case report [PDF]

, 2016
Townes‑Brocks syndrome (TBS) is a rare autosomal dominant congenital anomaly syndrome characterized by the triad of anorectal, hand and external ear malformations. Kidney involvement is less common and may progress to end‑stage renal failure (ESRF) early
Bian, F, Gale, D, Jiang, GR, Lin, FJ, Lu, W, Yao, Y, Zou, R   +6 more
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Transcriptional Complexity in Autosomal Recessive Polycystic Kidney Disease [PDF]

Clinical Journal of the American Society of Nephrology, 2014
Autosomal recessive polycystic kidney disease (ARPKD) is caused by mutations in the PKHD1 gene. The longest open reading frame comprises 66 exons encoding polyductin or fibrocystin, a type I transmembrane protein with 4074 amino acids. Functional investigations are considerably hampered by its large size and lack of expression in tissues that are ...
Carsten Bergmann, Carsten Bergmann, Klaus Zerres, Valeska Frank   +3 more
openaire   +2 more sources

Exploring the Spectrum of Kidney Ciliopathies

Diagnostics, 2020
Ciliopathies are a group of multi-organ diseases caused by the disruption of the primary cilium. This event leads to a variety of kidney disorders, including nephronophthisis, renal cystic dysplasia, and renal cell carcinoma (RCC).
Matteo Santoni, Francesco Piva, Alessia Cimadamore, Matteo Giulietti, Nicola Battelli, Rodolfo Montironi, Laura Cosmai, Camillo Porta   +7 more
doaj   +1 more source

Short-Term Outcome of Isolated Kidney Transplantation in Children with Autosomal Recessive Polycystic Kidney Disease: A Case Series and Literature Review

Clinics and Practice, 2023
Autosomal recessive polycystic kidney disease (ARPKD) is often associated with hepatobiliary disease in the form of hepatic fibrosis and/or Caroli disease.
Ratna Acharya, Kiran Upadhyay
doaj   +1 more source

Localization of overexpressed c-myc mRNA in polycystic kidneys of the cpk mouse [PDF]

, 1992
Localization of overexpressed c-myc mRNA in polycystic kidneys of the cpk mouse. The C57BL/6J-cpk mouse has a form of autosomal-recessive polycystic kidney disease characterized by the rapid growth of large collecting duct cysts and the development of ...
Calvet, James P., Gattone, Vincent H., Grantham, Jared J., Harding, Michael A.   +3 more
core   +1 more source