نتایج جستجو برای: adpkd

تعداد نتایج: 1335  

2014
Abdulmecit Yildiz Cuma Bulent Gul Alparslan Ersoy Selda Dogan Kemal Karaağaç Saim Sag Aysegul Oruc Nimet Aktas Gokhan Ocakoglu Ibrahim Dogan Sumeyye Gullulu Mustafa Gullulu

Introduction. Recent studies report reduced vascular compliance and elevated levels of fibroblast growth factor 23 (FGF23) in patients with autosomal dominant polycystic kidney disease (ADPKD) and preserved kidney function. In the present study, we investigated the relationship between vascular compliance and FGF23 in patients in early phases of ADPKD. Materials and Methods. We studied 54 ADPKD...

Journal: :Clinical journal of the American Society of Nephrology : CJASN 2012
Ivana Pavik Philippe Jaeger Lena Ebner Diane Poster Fabienne Krauer Andreas D Kistler Katharina Rentsch Gustav Andreisek Carsten A Wagner Olivier Devuyst Rudolf P Wüthrich Christoph Schmid Andreas L Serra

BACKGROUND AND OBJECTIVES Fibroblast growth factor 23 (FGF23) levels are elevated in patients with autosomal dominant polycystic kidney disease (ADPKD) and X-linked hypophosphatemia (XLH), but only the latter is characterized by a renal phosphate wasting phenotype. This study explored potential mechanisms underlying resistance to FGF23 in ADPKD. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS F...

Journal: :medical journal of islamic republic of iran 0
ramin radpour department of clinical genetics and infertility, reproductive biomedicine research center of royaninstitute, tehran.iran. mahdi m. haghighi the genetic research center of social welfare and rehabilitation sciences university, tehran mina ohadi the genetic research center of social welfare and rehabilitation sciences university, tehran behrooz broumand rasoul akram hospital, iran university of medical sciences, tehran, iran. hossein najmabadi the genetic research center of social welfare and rehabilitation sciences university, tehran asghar hagibeigi the genetic research center of social welfare and rehabilitation sciences university, tehran

abstract background: autosomal dominant polycystic kidney disease (adpkd) is an inherited disorder with genetic heterogeneity. up to three loci are involved in this disease, pkdi on chromosome 16p13.3, pkd2 on 4q21, and a third locus of unknown location. methods: here we report the first molecular genetic study of adpkd and the existence oflocus heterogeneity for adpkd in the iranian population...

2015
Hamad Ali Naser Hussain Medhat Naim Mohamed Zayed Fahd Al-Mulla Elijah O Kehinde Lauren M Seaburg Jamie L Sundsbak Peter C Harris

BACKGROUND Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most common form of Polycystic Kidney Disease (PKD) and occurs at a frequency of 1/800 to 1/1000 affecting all ethnic groups worldwide. ADPKD shows significant intrafamilial phenotypic variability in the rate of disease progression and extra-renal manifestations, which suggests the involvement of heritable modifier genes. He...

2016
Tomonaga Ameku Daisuke Taura Masakatsu Sone Tomohiro Numata Masahiro Nakamura Fumihiko Shiota Taro Toyoda Satoshi Matsui Toshikazu Araoka Tetsuhiko Yasuno Shin-Ichi Mae Hatasu Kobayashi Naoya Kondo Fumiyo Kitaoka Naoki Amano Sayaka Arai Tomoko Ichisaka Norio Matsuura Sumiko Inoue Takuya Yamamoto Kazutoshi Takahashi Isao Asaka Yasuhiro Yamada Yoshifumi Ubara Eri Muso Atsushi Fukatsu Akira Watanabe Yasunori Sato Tatsutoshi Nakahata Yasuo Mori Akio Koizumi Kazuwa Nakao Shinya Yamanaka Kenji Osafune

Cardiovascular complications are the leading cause of death in autosomal dominant polycystic kidney disease (ADPKD), and intracranial aneurysm (ICA) causing subarachnoid hemorrhage is among the most serious complications. The diagnostic and therapeutic strategies for ICAs in ADPKD have not been fully established. We here generated induced pluripotent stem cells (iPSCs) from seven ADPKD patients...

2016
Shiva Nagendra Reddy Annapareddy Ramprasad Elumalai Bhaskar V.K.S. Lakkakula Gnanasambandan Ramanathan Soundararajan Periyasamy

Introduction: Autosomal dominant polycystic kidney disease (ADPKD) is characterized by the presence of numerous cysts in the kidney and manifest with various renal and extra-renal complications leading to ESRD. Endothelin may contribute to various renal and extra-renal manifestations pointing to genetic and environmental modifying factors that alter the risk of developing chronic kidney disease...

2014
Iddo Z. Ben-Dov Ying-Cai Tan Pavel Morozov Patricia D. Wilson Hanna Rennert Jon D. Blumenfeld Thomas Tuschl

BACKGROUND Autosomal dominant polycystic kidney disease (ADPKD) is clinically heterogenic. Biomarkers are needed to predict prognosis and guide management. We aimed to profile microRNA (miRNA) in ADPKD to gain molecular insight and evaluate biomarker potential. METHODS Small-RNA libraries were generated from urine specimens of ADPKD patients (N = 20) and patients with chronic kidney disease o...

Journal: :Journal of the American Society of Nephrology : JASN 2000
A Persu O Devuyst N Lannoy R Materne G Brosnahan P A Gabow Y Pirson C Verellen-Dumoulin

Disease-modifying genes might participate in the significant intrafamilial variability of the renal phenotype in autosomal dominant polycystic kidney disease (ADPKD). Cystic fibrosis (CF) transmembrane conductance regulator (CFTR) is a chloride channel that promotes intracystic fluid secretion, and thus cyst progression, in ADPKD. The hypothesis that mutations of the CF gene, which encodes CFTR...

Journal: :AJNR. American journal of neuroradiology 2016
M Niemczyk

Autosomal dominant polycystic kidney disease (ADPKD) belongs to the most common genetic disorders, with approximately 12.5 million individuals involved worldwide. The disease is a well-known risk factor for intracranial aneurysms (IAs). The rupture of an IA is associated with a high risk of serious complications or death, yet universal screening for IAs in ADPKD remains controversial. It is mai...

Journal: :Pediatrics 2002
Füsun Korkmaz Alehan Berkan Gürakan Muhteşem Ağildere

Autosomal dominant polycystic kidney disease (ADPKD) is a systemic disorder well-known for its association with intracranial aneurysms. Recently, intracranial arachnoid cysts have also been reported to be associated with ADPKD. We describe a father and daughter who each has a posterior fossa arachnoid cyst and asymptomatic ADPKD. To our knowledge, this is the first report of familial occurrence...

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