keyword
MENU ▼
Read by QxMD icon Read
search

cystic kidney disease

keyword
https://www.readbyqxmd.com/read/28432469/renal-findings-in-patients-with-mulibrey-nanism
#1
Johanna Sivunen, Susann Karlberg, Jouko Lohi, Niklas Karlberg, Marita Lipsanen-Nyman, Hannu Jalanko
BACKGROUND: Mulibrey nanism (MUL) is a rare inherited disease caused by genetic defects affecting peroxisomal TRIM37 protein. MUL affects multiple organs, leading to growth retardation and early onset type 2 diabetes. We aimed to characterize the structure and function of kidneys and the urinary tract in a large cohort of Finnish MUL patients. METHODS: Ultrasound, magnetic resonance imaging (MRI), and autopsy findings of the kidneys and urinary tract from 101 MUL patients were retrospectively analyzed...
April 22, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/28417852/nuclear-medicine-in-pediatric-nephro-urology-an-overview
#2
REVIEW
Iosif Mendichovszky, Bernardita Troncoso Solar, Naima Smeulders, Marina Easty, Lorenzo Biassoni
In the context of ante-natally diagnosed hydronephrosis, the vast majority of children with a dilated renal pelvis do not need any surgical treatment, as the dilatation resolves spontaneously with time. Slow drainage demonstrated at Tc-99m-mercaptoacetyltriglycine (MAG3) renography does not necessarily mean obstruction. Obstruction is defined as resistance to urinary outflow with urinary stasis at the level of the pelvic-ureteric junction (PUJ) which, if left untreated, will damage the kidney. Unfortunately this definition is retrospective and not clinically helpful...
May 2017: Seminars in Nuclear Medicine
https://www.readbyqxmd.com/read/28416225/b-type-natriuretic-peptide-overexpression-ameliorates-hepatorenal-fibrocystic-disease-in%C3%A2-a%C3%A2-rat%C3%A2-model-of-polycystic-kidney-disease
#3
Sara J Holditch, Claire A Schreiber, Peter C Harris, Nicholas F LaRusso, Marina Ramirez-Alvarado, Alessandro Cataliotti, Vicente E Torres, Yasuhiro Ikeda
Polycystic kidney disease (PKD) involves progressive hepatorenal cyst expansion and fibrosis, frequently leading to end-stage renal disease. Increased vasopressin and cAMP signaling, dysregulated calcium homeostasis, and hypertension play major roles in PKD progression. The guanylyl cyclase A agonist, B-type natriuretic peptide (BNP), stimulates cGMP and shows anti-fibrotic, anti-hypertensive, and vasopressin-suppressive effects, potentially counteracting PKD pathogenesis. Here, we assessed the impacts of guanylyl cyclase A activation on PKD progression in a rat model of PKD...
April 14, 2017: Kidney International
https://www.readbyqxmd.com/read/28416105/do-clear-cell-papillary-renal-cell-carcinomas-have-malignant-potential-diolombi-ml-cheng-l-argani-p-epstein-ji-am-j-surg-pathol-december-2015-39-12-1621-1634
#4
Oleksandr N Kryvenko
There have been no recurrences or metastases of clear cell papillary renal cell carcinoma (CCPRCC) in 268 reported cases with follow-up in the English-language literature. We identified all our cases of CCPRCC (1990-2013), reviewing all cases that preceded the formal designation of the entity. Immunohistochemical stains were performed on 32 cases during their initial workup. In addition, stains for carbonic anhydrase IX and cytokeratin 7 were performed on 2 cases, one with atypical follow-up and the other with a more compact morphology, although not performed initially...
April 13, 2017: Urologic Oncology
https://www.readbyqxmd.com/read/28410364/loss-of-arf4-causes-severe-degeneration-of-the-exocrine-pancreas-but-not-cystic-kidney-disease-or-retinal-degeneration
#5
Jillian N Pearring, Jovenal T San Agustin, Ekaterina S Lobanova, Christopher J Gabriel, Eric C Lieu, William J Monis, Michael W Stuck, Lara Strittmatter, Samer M Jaber, Vadim Y Arshavsky, Gregory J Pazour
Arf4 is proposed to be a critical regulator of membrane protein trafficking in early secretory pathway. More recently, Arf4 was also implicated in regulating ciliary trafficking, however, this has not been comprehensively tested in vivo. To directly address Arf4's role in ciliary transport, we deleted Arf4 specifically in either rod photoreceptor cells, kidney, or globally during the early postnatal period. Arf4 deletion in photoreceptors did not cause protein mislocalization or retinal degeneration, as expected if Arf4 played a role in protein transport to the ciliary outer segment...
April 14, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28409351/inflammation-and-fibrosis-in-polycystic-kidney-disease
#6
Cheng Jack Song, Kurt A Zimmerman, Scott J Henke, Bradley K Yoder
Polycystic kidney disease (PKD) is a commonly inherited disorder characterized by cyst formation and fibrosis (Wilson, N Engl J Med 350:151-164, 2004) and is caused by mutations in cilia or cilia-related proteins, such as polycystin 1 or 2 (Oh and Katsanis, Development 139:443-448, 2012; Kotsis et al., Nephrol Dial Transplant 28:518-526, 2013). A major pathological feature of PKD is the development of interstitial inflammation and fibrosis with an associated accumulation of inflammatory cells (Grantham, N Engl J Med 359:1477-1485, 2008; Zeier et al...
2017: Results and Problems in Cell Differentiation
https://www.readbyqxmd.com/read/28409350/primary-cilia-in-cystic-kidney-disease
#7
Prachee Avasthi, Robin L Maser, Pamela V Tran
Primary cilia are small, antenna-like structures that detect mechanical and chemical cues and transduce extracellular signals. While mammalian primary cilia were first reported in the late 1800s, scientific interest in these sensory organelles has burgeoned since the beginning of the twenty-first century with recognition that primary cilia are essential to human health. Among the most common clinical manifestations of ciliary dysfunction are renal cysts. The molecular mechanisms underlying renal cystogenesis are complex, involving multiple aberrant cellular processes and signaling pathways, while initiating molecular events remain undefined...
2017: Results and Problems in Cell Differentiation
https://www.readbyqxmd.com/read/28406902/bicaudal-c-mutation-causes-myc-and-tor-pathway-up-regulation-and-polycystic-kidney-disease-like-phenotypes-in-drosophila
#8
Chiara Gamberi, David R Hipfner, Marie Trudel, William D Lubell
Progressive cystic kidney degeneration underlies diverse renal diseases, including the most common cause of kidney failure, autosomal dominant Polycystic Kidney Disease (PKD). Genetic analyses of patients and animal models have identified several key drivers of this disease. The precise molecular and cellular changes underlying cystogenesis remain, however, elusive. Drosophila mutants lacking the translational regulator Bicaudal C (BicC, the fly ortholog of vertebrate BICC1 implicated in renal cystogenesis) exhibited progressive cystic degeneration of the renal tubules (so called "Malpighian" tubules) and reduced renal function...
April 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28392475/a-familial-case-of-severe-infantile-nephronophthisis-explained-by-oligogenic-inheritance
#9
Valentin Penchev, Anelia Boueva, Kunka Kamenarova, Dimitar Roussinov, Reni Tzveova, Mariya Ivanova, Violeta Dimitrova, Ivo Kremensky, Vanio Mitev, Radka Kaneva, Olga Beltcheva
Renal cysts are common malformation during the prenatal and postnatal period and frequent cause of chronic kidney or ESRD. More than 70 genes have been shown to play role in their pathology. Part of them are responsible for the structure and function of the cilia, which assigns a large proportion of the renal cystic diseases in the ciliopathies. Another group of genes responsible for cystic kidneys encodes transcription factors with crucial role during organogenesis. We describe here a systematic approach for identifying the genetic cause(s) of an unusually severe form of renal cystic disease in a family with multiple affected siblings...
April 6, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28391180/classifying-oxidative-stress-by-f2-isoprostane-levels-across-human-diseases-a-meta-analysis
#10
Thomas J van 't Erve, Maria B Kadiiska, Stephanie J London, Ronald P Mason
The notion that oxidative stress plays a role in virtually every human disease and environmental exposure has become ingrained in everyday knowledge. However, mounting evidence regarding the lack of specificity of biomarkers traditionally used as indicators of oxidative stress in human disease and exposures now necessitates re-evaluation. To prioritize these re-evaluations, published literature was comprehensively analyzed in a meta-analysis to quantitatively classify the levels of systemic oxidative damage across human disease and in response to environmental exposures...
March 28, 2017: Redox Biology
https://www.readbyqxmd.com/read/28385574/ouabain-promotes-partial-epithelial-to-mesenchymal-transition-emt-changes-in-human-autosomal-dominant-polycystic-kidney-disease-adpkd-cells
#11
Jessica Venugopal, Jeffrey McDermott, Gladis Sanchez, Madhulika Sharma, Leandro Barbosa, Gail A Reif, Darren P Wallace, Gustavo Blanco
The hormone ouabain has been shown to enhance the cystic phenotype of autosomal dominant polycystic kidney disease (ADPKD). Among other characteristics, the ADPKD phenotype includes cell de-differentiation and epithelial to mesenchymal transition (EMT). Here, we determined whether physiological concentrations of ouabain induces EMT in human renal epithelial cells from patients with ADPKD. We found that ADPKD cells respond to ouabain with a decrease in expression of the epithelial marker E-cadherin and increase in the expression of the mesenchymal markers N-cadherin, α smooth muscle actin (αSMA) and collagen-I; and the tight junction protein occludin and claudin-1...
April 3, 2017: Experimental Cell Research
https://www.readbyqxmd.com/read/28374938/diagnostic-use-of-computational-retrotransposon-detection-successful-definition-of-pathogenetic-mechanism-in-a-ciliopathy-phenotype
#12
Toshiki Takenouchi, Tomu Kuchikata, Hiroshi Yoshihashi, Mineko Fujiwara, Tomoko Uehara, Sahoko Miyama, Shiro Yamada, Kenjiro Kosaki
Among more than 5,000 human monogenic disorders with known causative genes, transposable element insertion of a Long Interspersed Nuclear Element 1 (LINE1, L1) is known as the mechanistic basis in only 13 genetic conditions. Meckel-Gruber syndrome is a rare ciliopathy characterized by occipital encephalocele and cystic kidney disease. Here, we document a boy with occipital encephalocele, post-axial polydactyly, and multicystic renal disease. A medical exome analysis detected a heterozygous frameshift mutation, c...
April 4, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28355731/-the-455th-case-swollen-leg-jaundice-and-mental-disturbance
#13
R Dong, L Weng, T Guo, T N Zhu, J L Zhao, Q J Wu, X F Zeng
A 17-year-old young man with a history of swollen leg and intermittent jaundice was presented to Peking Union Medical College Hospital with acute fever and mental disturbance. He developed deep venous thrombosis, acute myocardial infarction and plantar skin necrosis during the past four years, and was presented with an acute episode of fever, thrombocytopenia, acute kidney injury, acute myocardial infarction, mental disturbance, and obstructive jaundice. Laboratory tests showed schistocytes on peripheral blood smear...
April 1, 2017: Zhonghua Nei Ke za Zhi [Chinese Journal of Internal Medicine]
https://www.readbyqxmd.com/read/28353376/acquired-cystic-disease-associated-renal-cell-carcinoma-review-of-pathogenesis-morphology-ancillary-tests-and-clinical-features
#14
REVIEW
Michelle Foshat, Eduardo Eyzaguirre
Acquired cystic disease-associated renal cell carcinoma (ACD-RCC) is a recently described subtype of RCC found in individuals with ACD of the kidney. Because of underrecognition, information regarding this lesion is sparse but continues to accumulate with each new report. Herein, a thorough literature review amassing the current understanding of this unique neoplasm is presented. Discussion focuses on clinical features, pathogenesis, disease outcome, and relation to the duration of dialysis. The macroscopic and characteristic microscopic features are described with illustrations...
April 2017: Archives of Pathology & Laboratory Medicine
https://www.readbyqxmd.com/read/28341273/branched-chain-amino-acids-enhance-cyst-development-in-autosomal-dominant-polycystic-kidney-disease
#15
Junya Yamamoto, Saori Nishio, Fumihiko Hattanda, Daigo Nakazawa, Toru Kimura, Michio Sata, Minoru Makita, Yasunobu Ishikawa, Tatsuya Atsumi
Autosomal dominant polycystic kidney disease (ADPKD) is characterized by the progressive development of kidney and liver cysts. The mammalian target of rapamycin (mTOR) cascade is one of the important pathways regulating cyst growth in ADPKD. Branched-chain amino acids (BCAAs), including leucine, play a crucial role to activate mTOR pathway. Therefore, we administered BCAA dissolved in the drinking water to Pkd1(flox/flox):Mx1-Cre (cystic) mice from four to 22 weeks of age after polyinosinic-polycytidylic acid-induced conditional Pkd1 knockout at two weeks of age...
March 21, 2017: Kidney International
https://www.readbyqxmd.com/read/28341240/overexpression-of-exogenous-kidney-specific-ngal-attenuates-progressive-cyst-development-and-prolongs-lifespan-in-a-murine-model-of-polycystic-kidney-disease
#16
Ellian Wang, Yuan-Yow Chiou, Wen-Yih Jeng, Hsiu-Kuan Lin, Hsi-Hui Lin, Hsian-Jean Chin, Chi-Kuang Leo Wang, Shang-Shiuan Yu, Shih-Chieh Tsai, Chih-Ying Chiang, Po-Hao Cheng, Hong-Jie Lin, Si-Tse Jiang, Sou-Tyau Chiu, Hsiu Mei Hsieh-Li
Neutrophil gelatinase-associated lipocalin (Ngal) is a biomarker for acute and chronic renal injuries, including polycystic kidney disease (PKD). However, the effect of Ngal on PKD progression remains unexplored. To study this, we generated 3 strains of mice with different expression levels of Ngal within an established PKD model (Pkd1(L3/L3)): Pkd1(L3/L3) (with endogenous Ngal), Pkd1(L3/L3); Ngal(Tg/Tg) (with endogenous and overexpression of exogenous kidney-specific Ngal) and Pkd1(L3/L3); Ngal(-/-) mice (with Ngal deficiency)...
February 2017: Kidney International
https://www.readbyqxmd.com/read/28340841/liver-transplantation-for-polycystic-liver-disease-due-to-huge-liver-with-related-complications-a-case-report
#17
S Acar, G Gencdal, M Tokac, E Eren, U Alkara, G Tellioglu, A Dinckan, M Akyildiz
Polycystic liver disease is characterized by multiple cystic lesions on the liver. It is an uncommon autosomal dominant disease. The cysts' diameters range from 20 to 30 cm to small microscopic nodules. Generally, more than half of the liver parenchyma is covered. The mass effect of the liver created by the large cysts can cause life-threatening symptoms such as weight loss, reduction of oral intake, and malnutrition. Liver transplantation is the best treatment option in symptomatic patients. We present a patient who had polycystic liver and kidney disease, and we performed liver transplantation because of his life-threatening symptoms...
April 2017: Transplantation Proceedings
https://www.readbyqxmd.com/read/28340010/non-proteinuric-rather-than-proteinuric-renal-diseases-are-the-leading-cause-of-end-stage-kidney-disease
#18
Davide Bolignano, Carmine Zoccali
Proteinuria is a distinguishing feature in primary and secondary forms of chronic glomerulonephritis, which contribute to no more than the 20% of the end-stage kidney disease (ESKD) population. The contribution of non-proteinuric nephropathies to the global ESKD burden is still poorly focused and scarce research efforts are dedicated to the elucidation of risk factors and mechanistic pathways triggering ESKD in these diseases. We abstracted information on proteinuria in the main renal diseases other than glomerulonephritides that may evolve into ESKD...
April 1, 2017: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/28326182/birt-hogg-dub%C3%A3-syndrome-a-case-report-and-a-review-of-the-literature
#19
REVIEW
Dea Kejlberg Jensen, Anders Villumsen, Anne-Bine Skytte, Mia Gebauer Madsen, Mette Sommerlund, Elisabeth Bendstrup
Background: Birt-Hogg-Dubé syndrome (BHDS) is a rare autosomal dominant inherited syndrome caused by mutations in the folliculin coding gene (FLCN). The clinical manifestations of the syndrome involve the skin, lungs, and kidneys. Because of the rarity of the syndrome, guidelines for diagnosis and management of the patients with BHDS are lacking. Objective: To present a case story and a review of the literature on BHDS in order to give an update on genetics, clinical manifestations, diagnosis, treatment, prognosis and follow-up strategies...
2017: European Clinical Respiratory Journal
https://www.readbyqxmd.com/read/28324003/biliary-anomalies-in-patients-with-hnf1b-diabetes
#20
Jarno Lt Kettunen, Helka Parviainen, Päivi J Miettinen, Martti Färkkilä, Marjo Tamminen, Pia Salonen, Eila Lantto, Tiinamaija Tuomi
Context: The clinical spectrum of organogenetic anomalies associated with HNF1B mutations is heterogeneous. Besides cystic kidney disease, diabetes, and various other manifestations, odd cases of mainly neonatal and post-transplant cholestasis have been described. The biliary phenotype is incompletely defined. Objective: To systematically characterize HNF1B-related anomalies in the bile ducts by imaging with MRI or MRCP. Setting and Patients: Fourteen patients with HNF1B mutations in the catchment area of the Helsinki University hospital were evaluated with upper abdominal MRI and MRCP...
March 17, 2017: Journal of Clinical Endocrinology and Metabolism
keyword
keyword
52910
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"