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https://www.readbyqxmd.com/read/29146704/prospective-evaluation-of-kidney-disease-in-joubert-syndrome
#1
Leah R Fleming, Daniel A Doherty, Melissa A Parisi, Ian A Glass, Joy Bryant, Roxanne Fischer, Baris Turkbey, Peter Choyke, Kailash Daryanani, Meghana Vemulapalli, James C Mullikin, May Christine Malicdan, Thierry Vilboux, John A Sayer, William A Gahl, Meral Gunay-Aygun
BACKGROUND AND OBJECTIVES: Joubert syndrome is a genetically heterogeneous ciliopathy associated with >30 genes. The characteristics of kidney disease and genotype-phenotype correlations have not been evaluated in a large cohort at a single center. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: We evaluated 97 individuals with Joubert syndrome at the National Institutes of Health Clinical Center using abdominal ultrasonography, blood and urine chemistries, and DNA sequencing...
November 16, 2017: Clinical Journal of the American Society of Nephrology: CJASN
https://www.readbyqxmd.com/read/29146700/phenotypic-spectrum-of-children-with-nephronophthisis-and-related-ciliopathies
#2
Jens König, Birgitta Kranz, Sabine König, Karl Peter Schlingmann, Andrea Titieni, Burkhard Tönshoff, Sandra Habbig, Lars Pape, Karsten Häffner, Matthias Hansen, Anja Büscher, Martin Bald, Heiko Billing, Raphael Schild, Ulrike Walden, Tobias Hampel, Hagen Staude, Magdalena Riedl, Norbert Gretz, Martin Lablans, Carsten Bergmann, Friedhelm Hildebrandt, Heymut Omran, Martin Konrad
BACKGROUND AND OBJECTIVES: Genetic heterogeneity and phenotypic variability are major challenges in familial nephronophthisis and related ciliopathies. To date, mutations in 20 different genes (NPHP1 to -20) have been identified causing either isolated kidney disease or complex multiorgan disorders. In this study, we provide a comprehensive and detailed characterization of 152 children with a special focus on extrarenal organ involvement and the long-term development of ESRD. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: We established an online-based registry (www...
November 16, 2017: Clinical Journal of the American Society of Nephrology: CJASN
https://www.readbyqxmd.com/read/29145295/extrarenal-teratoma-with-nephroblastoma-in-the-retroperitoneum-case-report-and-literature-review
#3
Yanan Li, Chuanfen Lei, Bo Xiang, Fuyu Li, Chuan Wang, Qi Wang, Siyuan Chen, Yi Ji
RATIONALE: Teratoma with nephroblastoma is a rare disease. The most common site at which teratoma with nephroblastoma occurs is the kidney. The mechanisms underlying the development of teratoma with nephroblastoma have not been fully elucidated. PATIENT CONCERNS: In the current report, we describe the clinical characteristics of a 3-year-old girl with a complaint of a painless abdominal mass in the upper right side of the body. Ultrasonography and computed tomography revealed a cystic-solid mass with a clear boundary...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29115094/the-first-successful-lung-transplantation-in-a-korean-child-with-cystic-fibrosis
#4
Soo Ran Noh, Eun Lee, Jisun Yoon, Sungsu Jung, Song I Yang, Jinho Yu, Soo Jong Hong
Cystic fibrosis (CF) is an autosomal recessive inherited multisystem disorder caused by mutations of the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR) protein. Respiratory failure remains the most frequent cause of morbidity and mortality. Lung transplantation is the only option to treat end-stage lung disease. Very few cases of CF occur in Koreans. We report the case of a 12-year-old girl with respiratory failure due to CF who underwent lung transplantation. She had been diagnosed with CF 8 years previously after being treated for recurrent Pseudomonas aeruginosa pneumonia and malnutrition based on sweat chloride concentrations and the CFTR protein gene mutation test...
December 2017: Journal of Korean Medical Science
https://www.readbyqxmd.com/read/29107072/ectopic-phosphorylated-creb-marks-dedifferentiated-proximal-tubules-in-cystic-kidney-disease
#5
Pawan Puri, Caitlin M Schaefer, Daniel Bushnell, Mary E Taglienti, Jordan A Kreidberg, Bradley K Yoder, Carlton M Bates
Ectopic cAMP signaling is pathological in polycystic kidney disease; however, its spatio-temporal actions are unclear. We characterized expression of phosphorylated Creb (p-Creb), a target and mediator of cAMP signaling, in developing and cystic kidney models. We also examined tubule-specific effects of cAMP analogs in cystogenesis in embryonic kidney explants. In wild-type mice, p-Creb marked nephron progenitors (NP), early epithelial NP derivatives, ureteric bud, and cortical stroma; p-Creb was present in differentiated thick ascending limb of Henle, collecting duct, and stroma; however, it disappeared in mature NP-derived proximal tubules...
October 26, 2017: American Journal of Pathology
https://www.readbyqxmd.com/read/29100091/mutations-in-greb1l-cause-bilateral-kidney-agenesis-in-humans-and-mice
#6
Lara De Tomasi, Pierre David, Camille Humbert, Flora Silbermann, Christelle Arrondel, Frédéric Tores, Stéphane Fouquet, Audrey Desgrange, Olivier Niel, Christine Bole-Feysot, Patrick Nitschké, Joëlle Roume, Marie-Pierre Cordier, Christine Pietrement, Bertrand Isidor, Philippe Khau Van Kien, Marie Gonzales, Marie-Hélène Saint-Frison, Jelena Martinovic, Robert Novo, Juliette Piard, Christelle Cabrol, Ishwar C Verma, Ratna Puri, Hubert Journel, Jacqueline Aziza, Laurent Gavard, Marie-Hélène Said-Menthon, Laurence Heidet, Sophie Saunier, Cécile Jeanpierre
Congenital anomalies of the kidney and urinary tract (CAKUT) constitute a major cause of chronic kidney disease in children and 20% of prenatally detected anomalies. CAKUT encompass a spectrum of developmental kidney defects, including renal agenesis, hypoplasia, and cystic and non-cystic dysplasia. More than 50 genes have been reported as mutated in CAKUT-affected case subjects. However, the pathophysiological mechanisms leading to bilateral kidney agenesis (BKA) remain largely elusive. Whole-exome or targeted exome sequencing of 183 unrelated familial and/or severe CAKUT-affected case subjects, including 54 fetuses with BKA, led to the identification of 16 heterozygous variants in GREB1L (growth regulation by estrogen in breast cancer 1-like), a gene reported as a target of retinoic acid signaling...
November 2, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29081931/atypical-clinical-presentation-and-successful-treatment-with-oral-cholic-acid-of-a-child-with-defective-bile-acid-synthesis-due-to-a-novel-mutation-in-the-hsd3b7-gene
#7
Grazia Bossi, Giuseppe Giordano, Gaetana Anna Rispoli, Giuseppe Maggiore, Mauro Naturale, Daniela Marchetti, Maria Iascone
We report definitive diagnosis and effective treatment with oral cholic acid in one Italian male child affected by 3β-hydroxy-Δ(5)-C(27)-steroid dehydrogenase (3β-HSD) deficiency. He presented with failure to thrive, hepatomegaly and multiple cystic images in kidneys; no biochemical evidence of cholestasis. Large amounts of bile acid metabolites was detected in urine by fast atom bombardment ionization mass spectrometry (FAB-MS). HSDH3B7 gene analysis identified one mutation in intron 4, at nucleotide 432, G>A substitution that has never been reported before...
October 6, 2017: Pediatric Reports
https://www.readbyqxmd.com/read/29080560/adenoid-cystic-carcinoma-of-the-breast-an-aggressive-presentation-with-pulmonary-kidney-and-brain-metastases-a-case-report
#8
Hasnae Alaoui Mhamdi, Hampig Raphael Kourie, Christiane Jungels, Philippe Aftimos, Rhizlane Belbaraka, Martine Piccart-Gebhart
BACKGROUND: Adenoid cystic carcinoma of the breast is a rare malignant neoplasm associated with an excellent prognosis and a very rare occurrence of metastases. CASE PRESENTATION: We report the case of an aggressive presentation in a 65-year-old woman, of Belgian origin, who was diagnosed as having adenoid cystic carcinoma of the breast and developed metastases to her lung, kidney, and brain. CONCLUSIONS: We describe similar cases reported in the literature and discuss the molecular characteristics and treatment paradigm of this controversially aggressive disease entity...
October 29, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/29069013/incidentally-polycystic-kidney-disease-identified-by-spect-ct-with-post-therapy-radioiodine-scintigraphy-in-a-patient-with-differentiated-thyroid-carcinoma-a-case-report
#9
Yan-Xia Mi, Xin Sui, Jian-Min Huang, Ling-Ge Wei, Peng Xie
RATIONALE: Post-therapy or diagnostic whole-body radioiodine scintigraphy is widely employed to evaluate the residual, recurrence, or metastases of differentiated thyroid carcinoma because of the high sensitivity and accuracy. However, it has pitfalls. PATIENT CONCERNS: We described a 63-year-old male with a history of papillary thyroid carcinoma who was referred for iodine-131 ablation therapy. The post-therapy iodine-131 whole-body images demonstrated abnormal increased uptake of the tracer in the regions of bilateral upper abdomen...
October 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29062909/congenital-hepatic-fibrosis-in-a-9-year-old-female-patient-a-case-report
#10
Kamil Janowski, Maria Goliszek, Joanna Cielecka-Kuszyk, Irena Jankowska, Joanna Pawłowska
Congenital hepatic fibrosis (CHF) is a rare, autosomal recessive disorder, clinically characterized by hepatic fibrosis and portal hypertension. CHF results from ductal plate malformation (DPM) of the intrahepatic bile ducts. Four clinical forms can be observed: portal hypertensive, cholangitic, mixed and latent. CHF is one of the "fibropolycystic diseases" which also include several conditions with a variety of intrahepatic bile duct dilatation and associated periportal fibrosis such as Caroli disease, autosomal recessive and dominant polycystic kidney disease (ARPKD or ADPKD), Ivemark, Jeune, Joubert, Bardet-Biedl, Meckel-Gruber and Arima syndromes...
September 2017: Clin Exp Hepatol
https://www.readbyqxmd.com/read/29058957/ctgf-is-expressed-during-cystic-remodeling-in-the-pkd-mhm-cy-rat-model-for-autosomal-dominant-polycystic-kidney-disease-adpkd
#11
Stefan Gauer, Yvonne Holzmann, Bettina Kränzlin, Sigrid C Hoffmann, Norbert Gretz, Ingeborg A Hauser, Margarete Goppelt-Struebe, Helmut Geiger, Nicholas Obermüller
Connective tissue growth factor (CTGF, also named CCN2) plays an important role in the development of tubulointerstitial fibrosis, which most critically determines the progression to end-stage renal failure in autosomal-dominant polycystic kidney disease (ADPKD), the most common genetically caused renal disease. We determined CTGF expression in a well-characterized animal model of human ADPKD, the PKD/Mhm (cy/+) rat. Kidneys of 12 weeks old (cy/+) as well as (+/+) non-affected rats were analyzed for CTGF RNA and protein expression by RT-PCR, Northern and Western blot analyses, in situ hybridization, and IHC...
October 1, 2017: Journal of Histochemistry and Cytochemistry: Official Journal of the Histochemistry Society
https://www.readbyqxmd.com/read/29052568/genetic-testing-of-the-mucin-1-gene-variable-number-tandem-repeat-single-cytosine-insertion-mutation-in-a-chinese-family-with-medullary-cystic-kidney-disease
#12
Nuo Si, Ke Zheng, Jie Ma, Xiao-Lu Meng, Xue-Mei Li, Xue Zhang
BACKGROUND: Medullary cystic kidney disease (MCKD) is clinically indistinguishable from several other autosomal-dominant renal diseases; thus, molecular genetic testing is needed to establish a definitive diagnosis. A specific type of single cytosine insertion in the variable number tandem repeat (VNTR) of the mucin 1 (MUC1) gene is the only known cause of MCKD1; however, genetic analysis of this mutation is difficult and not yet offered routinely. To identify the causative mutation/s and establish a definitive diagnosis in a Chinese family with chronic kidney disease, clinical assessments and genetic analysis were performed, including using a modified genotyping method to identify the MUC1- VNTR single cytosine insertion...
October 20, 2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/29044342/acquired-cystic-kidney-disease-in-allograft-with-long-standing-poor-function
#13
Leonardo Cardili, Henrique Machado de Sousa Proença, Marcello Fabiano de Franco
Acquired Cystic Kidney Disease (ACKD) is regarded as a common late condition of end stage renal damage and expresses its most important features when associated with long term hemodialysis. ACKD is also widely known as a premalignant lesion. Its occurrence in chronically rejected renal allografts is rare and its frequency and behavior in this setting are not well known. Herein we report a case of ACKD in a long standing nonfunctional allograft (215 months) which is not associated with malignancy and briefly review the related literature...
July 2017: Jornal Brasileiro de Nefrologia: ʹorgão Oficial de Sociedades Brasileira e Latino-Americana de Nefrologia
https://www.readbyqxmd.com/read/29034881/generation-of-induced-pluripotent-stem-cells-derived-from-an-autosomal-dominant-polycystic-kidney-disease-patient-with-a-p-ser1457fs-mutation-in-pkd1
#14
Ching-Ying Huang, Ming-Ching Ho, Jia-Jung Lee, Daw-Yang Hwang, Hui-Wen Ko, Yu-Che Cheng, Yu-Hung Hsu, Huai-En Lu, Hung-Chun Chen, Patrick C H Hsieh
Autosomal dominant polycystic kidney disease is one of the most prevalent forms of inherited cystic kidney disease, and can be characterized by kidney cyst formation and enlargement. Here we report the generation of a Type 1 ADPKD disease iPS cell line, IBMS-iPSC-012-12, which retains the conserved deletion of PKD1, normal karyotype and exhibits the properties of pluripotent stem cells such as ES-like morphology, expression of pluripotent markers and capacity to differentiate into all three germ layers. Our results show that we have successfully generated a patient-specific iPS cell line with a mutation in PKD1 for study of renal disease pathophysiology...
October 2017: Stem Cell Research
https://www.readbyqxmd.com/read/29033332/disruption-of-core-planar-cell-polarity-signaling-regulates-renal-tubule-morphogenesis-but-is-not-cystogenic
#15
Koshi Kunimoto, Roy D Bayly, Eszter K Vladar, Tyson Vonderfecht, Anna-Rachel Gallagher, Jeffrey D Axelrod
Oriented cell division (OCD) and convergent extension (CE) shape developing renal tubules, and their disruption has been associated with polycystic kidney disease (PKD) genes, the majority of which encode proteins that localize to primary cilia. Core planar cell polarity (PCP) signaling controls OCD and CE in other contexts, leading to the hypothesis that disruption of PCP signaling interferes with CE and/or OCD to produce PKD. Nonetheless, the contribution of PCP to tubulogenesis and cystogenesis is uncertain, and two major questions remain unanswered...
October 23, 2017: Current Biology: CB
https://www.readbyqxmd.com/read/29024476/prevalence-and-outcomes-of-cystic-lesions-of-the-transplant-pancreas-the-university-of-wisconsin-experience
#16
Talal M Al-Qaoud, Eric J Martinez, Hans W Sollinger, Dixon B Kaufman, Robert R Redfield, Bridget Welch, Glen Leverson, Jon S Odorico
Literature on the behavior of cystic lesions in pancreas transplants is scarce, and hence a better understanding is warranted. Data on recipients and their respective donors that underwent simultaneous kidney and pancreas, pancreas transplant alone, and pancreas after kidney between 1994-2015 were reviewed (n=1185). Cystic lesions of the transplant pancreas developed in 22 patients (1.8%): 12 pseudocysts, 2 cysts/remnants, 4 intraductal papillary mucinous neoplasms (IPMN), 2 adenocarcinomas, 1 low grade intraepithelial pancreatic neoplasia, and 1 case of polycystic kidney disease...
October 11, 2017: American Journal of Transplantation
https://www.readbyqxmd.com/read/29021226/attenuation-of-accelerated-renal-cystogenesis-in-pkd1-mice-by-renin-angiotensin-system-blockade
#17
Wayne R Fitzgibbon, Yujing Dang, Marlene A Bunni, Catalin F Baicu, Michael R Zile, Adam E Mullick, Takamitsu Saigusa
BACKGROUND: The intrarenal renin angiotensin system (RAS) is activated in polycystic kidney disease. We have recently shown in the Pkd1 mouse that Gen 2 antisense oligonucleotide (ASO), which suppresses angiotensinogen (Agt) synthesis, is efficacious in slowing kidney cyst formation compared to lisinopril. The aim of this current study was to determine 1) if unilateral nephrectomy accelerates cystogenesis in Pkd1 mice (as previously shown in cilia knockout mice), and 2) whether Agt ASO can slow the progression in this accelerated cystic mouse model...
October 11, 2017: American Journal of Physiology. Renal Physiology
https://www.readbyqxmd.com/read/28992279/targeting-new-cellular-disease-pathways-in-autosomal-dominant-polycystic-kidney-disease
#18
Ming-Yang Chang, Albert C M Ong
Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited cause of end-stage renal failure. Understanding the molecular and cellular pathogenesis of ADPKD could help to identify new targets for treatment. The classic cellular cystic phenotype includes changes in proliferation, apoptosis, fluid secretion, extracellular matrix and cilia function. Hoever, recent research, suggests that the cellular cystic phenotype could be broader and that changes, such as altered metabolism, autophagy, inflammation, oxidative stress and epigenetic modification, could play important roles in the processes of cyst initiation, cyst growth or disease progression...
August 29, 2017: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/28991563/imaging-and-screening-of-kidney-cancer
#19
REVIEW
Alberto Diaz de Leon, Ivan Pedrosa
Renal cell carcinoma (RCC) exhibits a diverse and heterogeneous disease spectrum, but insight into its molecular biology has provided an improved understanding of potential risk factors, oncologic behavior, and imaging features. Computed tomography (CT) and MR imaging may allow the identification and preoperative subtyping of RCC and assessment of a response to various therapies. Active surveillance is a viable management option in some patients and has provided further insight into the natural history of RCC, including the favorable prognosis of cystic neoplasms...
November 2017: Radiologic Clinics of North America
https://www.readbyqxmd.com/read/28973549/a-human-patient-derived-cellular-model-of-joubert-syndrome-reveals-ciliary-defects-which-can-be-rescued-with-targeted-therapies
#20
Shalabh Srivastava, Simon A Ramsbottom, Elisa Molinari, Sumaya Alkanderi, Andrew Filby, Kathryn White, Charline Henry, Sophie Saunier, Colin G Miles, John A Sayer
Joubert syndrome (JBTS) is the archetypal ciliopathy caused by mutation of genes encoding ciliary proteins leading to multi-system phenotypes, including a cerebello-retinal-renal syndrome. JBTS is genetically heterogeneous, however mutations in CEP290 are a common underlying cause. The renal manifestation of JBTS is a juvenile-onset cystic kidney disease, known as nephronophthisis, typically progressing to end-stage renal failure within the first two decades of life, thus providing a potential window for therapeutic intervention...
September 11, 2017: Human Molecular Genetics
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