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Absence of mTOR Inhibitor Effect on Hepatic Cyst Growth: A Case Report of a Kidney Transplant Recipient with Autosomal Dominant Polycystic Kidney Disease
Published 2012-01-01“…Some experimental studies have suggested a beneficial effect of the mammalian target of rapamycin (mTOR) inhibitor use on hepatic and renal cyst growth in patients with autosomal dominant polycystic kidney disease (ADPKD). However, the results of clinical studies are conflicting and the role of mTOR inhibitors is still uncertain. …”
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22
The Polymorphism of the ACE Gene Affects Left Ventricular Hypertrophy and Causes Disturbances in Left Ventricular Systolic/Diastolic Function in Patients with Autosomal Dominant Polycystic Kidney Disease
Published 2014-01-01“…Autosomal dominant polycystic kidney disease (ADPKD) is one of the most frequently occurring autosomal diseases inherited in the dominant manner. …”
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23
A Comparison of Urine Dilution Ability between Adult Dominant Polycystic Kidney Disease, Other Chronic Kidney Diseases, and Healthy Control Subjects: A Case-Control Study
Published 2020-01-01“…It is unclear whether urine dilution ability in autosomal dominant polycystic kidney disease patients (ADPKD patients) differs from other patients with similar degree of impaired renal function (non-ADPKD patients). …”
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24
Cystic Kidney Diseases in Sudanese Children: Pattern, Clinical Presentation, and Outcome
Published 2024-12-01“…The most prevalent type was polycystic kidney disease (PCKD; 40.9%), followed by multicystic dysplastic kidney (MCDK; 36.2%). …”
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25
Melanin-like nanoparticles as a potential novel therapeutic approach in ADPKD
Published 2024-11-01“…In this issue of EMBO Molecular Medicine, Sun and colleagues report the development of a novel therapeutic approach, and preclinical proof-of-concept evidence of its efficacy, for Autosomal Dominant Polycystic Kidney Disease (ADPKD) (Sun et al, 2024).…”
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26
Polycystic Diseases in Visceral Organs
Published 2011-01-01“…In particular, dysfunctional cilia have been implicated in a large number of diseases mainly characterized by the presence of fluid-filled cysts in various organs. Aside from polycystic kidney disease (PKD), however, the roles of cilia in polycystic liver disease (PLD), polycystic pancreas disease (PPD), and polycystic ovarian syndrome (PCOS) are still very vague. …”
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27
Aortic Disease in the Young: Genetic Aneurysm Syndromes, Connective Tissue Disorders, and Familial Aortic Aneurysms and Dissections
Published 2013-01-01“…There are many genetic syndromes associated with the aortic aneurysmal disease which include Marfan syndrome (MFS), Ehlers-Danlos syndrome (EDS), Loeys-Dietz syndrome (LDS), familial thoracic aortic aneurysms and dissections (TAAD), bicuspid aortic valve disease (BAV), and autosomal dominant polycystic kidney disease (ADPKD). In the absence of familial history and other clinical findings, the proportion of thoracic and abdominal aortic aneurysms and dissections resulting from a genetic predisposition is still unknown. …”
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28
The Mechanosensory Role of Primary Cilia in Vascular Hypertension
Published 2011-01-01“…In particular, hypertension is insidious and remains a continuous problem that evolves during the course of polycystic kidney disease (PKD). The basic and clinical perspectives on primary cilia are discussed with regard to the pathogenesis of hypertension in PKD.…”
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29
End-stage ADPKD with a low-frequency PKD1 mosaic variant accelerated by chemoradiotherapy
Published 2024-03-01“…Abstract Autosomal dominant polycystic kidney disease (ADPKD) is commonly caused by PKD1, and mosaic PKD1 variants result in milder phenotypes. …”
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30
Anterior Ischemic Optic Neuropathy in a Child Receiving Chronic Hemodialysis
Published 2020-01-01“…We report the first case of AION in a 2-year 11-month-old child receiving chronic hemodialysis secondary to polycystic kidney disease from a phosphomannomutase 2 gene mutation. …”
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31
Unexpected Abscess Localization of the Anterior Abdominal Wall in an ADPKD Patient Undergoing Hemodialysis
Published 2015-01-01“…Autosomal Dominant Polycystic Kidney Disease (ADPKD) is one of the most common monogenic disorders and the leading inheritable cause of end-stage renal disease worldwide. …”
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32
Zebrafish as a model for human epithelial pathology
Published 2025-02-01“…Zebrafish possess significant cellular and functional homology with mammals, which facilitates the investigation of various diseases, including inflammatory bowel disease, nonalcoholic fatty liver disease, and polycystic kidney disease. The advantages of using zebrafish as a model organism include rapid external development, ease of genetic manipulation, and advanced imaging capabilities, allowing for the real-time observation of disease processes. …”
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Caroli's Disease: Current Knowledge of Its Biliary Pathogenesis Obtained from an Orthologous Rat Model
Published 2012-01-01“…Caroli's disease belongs to a group of hepatic fibropolycystic diseases and is a hepatic manifestation of autosomal recessive polycystic kidney disease (ARPKD). It is a congenital disorder characterized by segmental saccular dilatations of the large intrahepatic bile duct and is frequently associated with congenital hepatic fibrosis (CHF). …”
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Strongyloides Hyperinfection in a Renal Transplant Patient: Always Be on the Lookout
Published 2017-01-01“…We present a case of a 71-year-old Vietnamese man with chronic kidney disease secondary to adult polycystic kidney disease. He had been a prisoner of war before undergoing a successful cadaveric renal transplant in the United States. …”
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Pyelonephritis and Bacteremia Caused by Klebsiella variicola following Renal Transplantation
Published 2021-01-01“…Here, we describe a 65-year-old woman who developed pyelonephritis 2 months after receiving a renal transplantation following a longstanding history of end-stage renal disease secondary to polycystic kidney disease. Her creatinine on admission was unchanged from her posttransplant baseline, and an abdominal CT scan showed inflammatory changes around the transplanted kidney that were suggestive of an infection rather than allograft rejection. …”
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Determination of Cystatin C Level in a Sample of Patients with Chronic Kidney Disease
Published 2022-11-01“…GFR of less than 60 mL/min/1.73 m2, A minimum of 30 mg of albuminuria per 24 hours, Hematuria or structural abnormalities are signs of kidney damage such like polycystic kidney disease or dysplastic kidneys that persists for more than 3 months. …”
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De Novo Onset of Myasthenia Gravis after Kidney Transplantation
Published 2024-01-01“…A 57-year-old female on treatment with peritoneal dialysis following polycystic kidney disease received a renal transplant with standard basiliximab induction. …”
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Iron and ferroptosis in kidney disease: molecular and metabolic mechanisms
Published 2025-02-01“…Over the past decade, ferroptosis’ role in mediating the development and progression of renal disorders, such as acute kidney injury (renal ischemia-reperfusion injury, drug-induced acute kidney injury, severe acute pancreatitis induced acute kidney injury and sepsis-associated acute kidney injury), chronic kidney disease (diabetic nephropathy, renal fibrosis, autosomal dominant polycystic kidney disease) and renal cell carcinoma, has come into focus. …”
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Hepatocyte Nuclear Factor 1 Beta Mutation-associated Newborn Onset of Glomerulocystic Kidney Disease: A Case Presentation
Published 2021-12-01“…The differential diagnosis of autosomal dominant polycystic kidney disease was a diagnostic pitfall. The genetic screening of the family revealed his mother, sister, and brother to have the same mutation. …”
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Translational regulation of PKD1 by evolutionarily conserved upstream open reading frames
Published 2025-12-01“…Mutations in PKD1 coding sequence and abnormal PKD1 expression levels contribute to the development of autosomal-dominant polycystic kidney disease, the most common genetic disorder. …”
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