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Adpkd diagnose

Claudia Sommerer, Martin Zeier
BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary kidney disease in Western countries. The prevalence is between 2.4/10,000 and 3.9/10,000. ADPKD represents a systemic disease resulting in deterioration in renal function. Until now, mutations in two genes (PKD1 and PKD2) have been identified. Recently, the European Medicines Agency (EMA) approved the use of the vasopressin V2 receptor antagonist tolvaptan to slow the progression of cyst development and renal insufficiency connected with ADPKD in adult patients with chronic kidney disease stages 1-3 at initiation of treatment with evidence of rapidly progressing disease...
October 2016: Kidney Diseases
Cheng Xue, Chen-Chen Zhou, Ming Wu, Chang-Lin Mei
BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic hereditary kidney disease characterized by progressive enlargement of renal cysts. The incidence is 1-2‰ worldwide. Mutations in two genes (PKD1 and PKD2) cause ADPKD. Currently, there is no pharmaceutical treatment available for ADPKD patients in China. Summary: This review focused on advances in clinical manifestation, gene diagnosis, risk factors, and management of ADPKD in China. There is an age-dependent increase in total kidney volume (TKV) and decrease in renal function in Chinese ADPKD patients...
October 2016: Kidney Diseases
Tatsuya Suwabe, Yoshifumi Ubara, Toshiharu Ueno, Noriko Hayami, Junichi Hoshino, Aya Imafuku, Masahiro Kawada, Rikako Hiramatsu, Eiko Hasegawa, Naoki Sawa, Satoshi Saitoh, Itsuko Okuda, Kenmei Takaichi
BACKGROUND: The purpose of this study was to investigate the usefulness of intracystic MRI features for detection of severe cyst infection that is usually refractory to antibiotic therapy alone in patients with autosomal dominant polycystic kidney disease. METHODS: Seventy-six patients (88 episodes) with positive cyst cultures treated from January 2006 to December 2013 were enrolled as the cases for this case-control study, while 147 patients who continued to attend our hospital from January 2011 to December 2013 and did not have cyst infection diagnosed during that period were enrolled as the controls...
November 9, 2016: BMC Nephrology
Eiko Hasegawa, Naoki Sawa, Junichi Hoshino, Tatsuya Suwabe, Noriko Hayami, Masayuki Yamanouchi, Akinari Sekine, Rikako Hiramatsu, Aya Imafuku, Masahiro Kawada, Yoshifumi Ubara, Tsunao Imamura, Kenmei Takaichi
We herein present a rare case of an autosomal dominant polycystic kidney disease (ADPKD) patient with Caroli's disease, a congenital embryonic biliary tree ductal plate abnormality often associated with autosomal recessive polycystic kidney disease. A 76-year-old woman with ADPKD on hemodialysis was admitted to our hospital with recurrent cholangitis and hepatobiliary stones. Caroli's disease was diagnosed according to typical imaging findings of cystic intrahepatic bile duct dilatation and the central dot sign...
2016: Internal Medicine
Yu Bin Shin, Jong Hoon Park
Autosomal Dominant Polycystic Kidney Disease (ADPKD) is one of the most common inherited disorders. It is the fourth leading cause of renal replacement and renal failure worldwide. Mutations in PKD1 or PKD2 cause ADPKD. Patients with ADPKD show progressive growth of renal cysts filled with cystic fluid, leading to end-stage renal disease (ESRD) and renal failure by their sixth decade of life. Currently, there are no curative treatments for ADPKD. Therefore, patients require dialysis or kidney transplantation...
2016: Advances in Experimental Medicine and Biology
Magdalena Nowak, Hubert Huras, Marcin Wiecheć, Robert Jach, Małgorzata Radoń-Pokracka, Joanna Górecka
Autosomal dominant polycystic kidney disease (ADPKD) is one of most common inherited renal diseases. It is estimated that very early onset ADPKD affects even 2% patients. The purpose of this article is to provide a comprehensive review of genetics, prenatal diagnosis and prognosis in very early onset autosomal dominant polycystic kidney disease.
2016: Ginekologia Polska
Laurel Truscott, Joanna Gell, Vivian Y Chang, Hane Lee, Samuel P Strom, Rex Pillai, Anthony Sisk, Julian A Martinez-Agosto, Martin Anderson, Noah Federman
Adolescent brothers were diagnosed with testicular germ cell tumors within the same month. Both were found to have multiple renal cysts on pretreatment imaging done for staging. The proband, his brother, and their mother, were all found to have a novel splice variant in intron 8 of the PKD1 gene by clinical exome sequencing. This is the second family reported with both familial testicular germ cell tumor (FTGCT) and autosomal dominant polycystic kidney disease (ADPKD), and the first described association of FTGCT with a splice variant in PKD1...
August 31, 2016: Pediatric Blood & Cancer
Jing Xie, Xue-Bin Zhang, Wen-Ze Wang, Han-Zhong Li
INTRODUCTION: Autosomal dominant polycystic kidney disease (ADPKD) is a multisystem hereditary disease characterized by formation of cysts in the ductal organs. Renal pelvis malignancy in ADPKD is very rare and sporadically reported in the previous literature. Here, we report the first case of renal pelvis squamous cell carcinoma with tumor embolus in a 35-year-old ADPKD patient. The patient presented with 3 months of persistent backache and intermittent fever, and was initially diagnosed as intracystic hemorrhage with inferior vena cava thrombosis formation...
August 2016: Medicine (Baltimore)
Marie Neuville, Roland Hustinx, Jessica Jacques, Jean-Marie Krzesinski, François Jouret
BACKGROUND: Acute febrile abdomen represents a diagnostic challenge in patients with autosomal dominant polycystic kidney disease (ADPKD). Although criteria have been proposed for cyst infection (CyI) and hemorrhage (CyH), there is a lack of comparative assessments. Furthermore, distinguishing cystic from non-cystic complications remains problematic. DESIGN: ADPKD patients presenting with abdominal pain and/or fever between 01/2005 and 06/2015 were retrospectively identified in a systematic computerized billing database...
2016: PloS One
Amali C Mallawaarachchi, Yvonne Hort, Mark J Cowley, Mark J McCabe, André Minoche, Marcel E Dinger, John Shine, Timothy J Furlong
Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic kidney disorder and is due to disease-causing variants in PKD1 or PKD2. Strong genotype-phenotype correlation exists although diagnostic sequencing is not part of routine clinical practice. This is because PKD1 bears 97.7% sequence similarity with six pseudogenes, requiring laborious and error-prone long-range PCR and Sanger sequencing to overcome. We hypothesised that whole-genome sequencing (WGS) would be able to overcome the problem of this sequence homology, because of 150 bp, paired-end reads and avoidance of capture bias that arises from targeted sequencing...
November 2016: European Journal of Human Genetics: EJHG
Riccardo Magistroni, Claudia Izzi, Francesco Scolari
Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic disorder related to kidney. ADPKD is usually easy to diagnose in people who have a family history of ADPKDs developing typical symptoms, including flank, abdominal pain or macroscopic hematuria. In this setting, diagnosis in adults at risk for ADPKD is commonly performed by ultrasonography, which reveals two enlarged kidneys with multiple bilateral cysts. ADPKD may be more difficult to diagnose in the absence of family history or in subjects with atypical presentation, including asymmetric or focal renal imaging findings, discordant disease within family, early onset of ADPKD and development of ESRD before 30 yr of age...
March 2016: Giornale Italiano di Nefrologia: Organo Ufficiale Della Società Italiana di Nefrologia
Hyun Woo Kwon, Ho-Young Lee, Young-Hwan Hwang, Hayne Cho Park, Curie Ahn, Keon Wook Kang
OBJECTIVES: Cyst infection (CI) is a common problem in patients with autosomal dominant polycystic kidney disease (ADPKD) and the accurate detection of infected cysts is very important. We evaluated the diagnostic performance of fluorine-18 fluorodeoxyglucose-labeled white blood cell (WBC) PET/computed tomography (CT) for detection of infected cysts in patients with ADPKD. PATIENTS AND METHODS: Seventeen patients with ADPKD (male : female, 6 : 11; age, 53±9 years) and suspected CI were enrolled in this prospective study...
May 2016: Nuclear Medicine Communications
Keiko Fukino, Junpei Ishiwata, Hiroki Shinohara, Tsukasa Oshima, Tsunashi Kozaki, Masayasu Ikutomi, Toshihiro Amaki, Fumitaka Nakamura
Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common hereditary disorders, characterized by the formation of multiple cysts in the kidneys and other organs, as well as noncystic manifestations such as cerebral aneurysm. The most common cardiovascular disorders associated with ADPKD include valvular abnormalities and aortic aneurysm. An association between ADPKD and impaired left ventricular function has occasionally been reported. We describe a 74-year-old woman with ADPKD and exertional dyspnea...
June 2016: American Journal of Kidney Diseases: the Official Journal of the National Kidney Foundation
Amin S I Banaga, Elaf B Mohammed, Rania M Siddig, Diana E Salama, Sara B Elbashir, Mohamed O Khojali, Rasha A Babiker, Khalifa Elmusharaf, Mamoun M Homeida
BACKGROUND: End stage renal failure (ESRF) has become a major health problem in Sub Saharan Africa (SSA). There were limited data about causes of ESRF in the Sudan. METHODS: This is a cross sectional hospital based descriptive study. The subjects of the study are ESRF adults' patients on regular haemodialysis treatment in 15 haemdoialysis centres in Khartoum State-Sudan. Clinical and epidemiological data were obtained from 1583 patients. The medical files of each patient were reviewed to identify the cause of ESRF...
2015: BMC Research Notes
Amelia J Hessheimer, Oscar Vidal, Mauro Valentini, Juan Carlos García-Valdecasas
INTRODUCTION: Individuals with autosomal dominant polycystic kidney disease (ADPKD) frequently suffer arterial hypertension even prior to significant loss of renal function, a clinical situation that obscures detection of modifiable secondary causes of hypertension. PRESENTATION OF CASE: A 50-year-old man with ADPKD and polycystic liver and resistant hypertension is diagnosed with a 4-cm right adrenal mass. Cross-sectional MRI is indicative of pheochromocytoma versus adrenocortical carcinoma or metastasis, though there are no typical PCC symptoms and plasma and urine metanephrines are within normal ranges...
2015: International Journal of Surgery Case Reports
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. Here we show that the PKD1 gene can act as a disease causing and a disease modifier gene in ADPKD patients...
2015: BMC Nephrology
Maria Pietrzak-Nowacka, Krzysztof Safranow, Janina Palacz, Edyta Gołembiewska, Małgorzata Marchelek-Myśliwiec, Kazimierz Ciechanowski
The aim of the study was to evaluate an association between kidney and cyst dimensions and anthropometric, clinical and biochemical parameters of autosomal dominant polycystic kidney disease (ADPKD) patients. Forty-nine adults, ADPKD-diagnosed patients aged 36 ± 11 years, and 50 healthy controls were included in the study. Oral glucose tolerance test (OGTT with 75 g of glucose) was performed and venous blood was collected to measure biochemical parameters and various ion concentrations. Ultrasound abdominal examinations were performed with special emphasis on kidney and cysts parameters...
June 2015: Renal Failure
Sherif Ali Eltawansy, Martin Miguel Amor, Maria Joana Thomas, Jeffrey Daniels
Autosomal dominant polycystic kidney disease (ADPKD) is associated with vascular aneurysms that can affect any part of the vascular tree, like ascending aorta or coronary arteries. Sinus of Valsalva is known as an anatomical dilation at the root of aorta above the aortic valve and very few cases show aneurysm at that site in patients with ADPKD. Sinus of Valsalva aneurysm (SVA) can present with rupture and acute heart failure and infective endocarditis or could be asymptomatic accidentally discovered during cardiac catheterization...
2015: Case Reports in Cardiology
Min Wu, Diping Wang, Ladan Zand, Peter C Harris, Wendy M White, Vesna D Garovic, Cindy A Kermott
OBJECTIVES: To determine whether autosomal dominant polycystic kidney disease (ADPKD) is associated with adverse fetal outcomes and maternal complications. METHODS: We identified a cohort of 146 patients seen for pregnancy and cystic kidney disease at Mayo Clinic from 1975 to 2010. From this cohort, 54 patients met the ultrasound diagnostic criteria for ADPKD (ADPKD group), while the other 92 patients were diagnosed as "Simple Cyst" (control group). We compared the fetal and maternal outcomes of pregnancy and long-term maternal prognoses between these two groups...
March 2016: Journal of Maternal-fetal & Neonatal Medicine
Takuji Tomimatsu, Mika Sugihara, Takafumi Nakamura, Naoki Kashihara, Koichiro Shimoya
BACKGROUND: A uterine cyst occurring as an extrarenal manifestation of autosomal dominant polycystic kidney disease (ADPKD) is extremely rare. CASE: A 46-year-old Japanese woman was referred with a large abdominal mass causing severe abdominal distension. A large uterine cyst as an extrarenal manifestation of ADPKD was strongly suspected. First, we managed this patient by aspirating the cyst fluid through a small laparotomy. A year later, the cyst recurred and the patient underwent hysterectomy...
2015: Gynecologic and Obstetric Investigation
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