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https://www.readbyqxmd.com/read/29323077/epidermoid-cyst-of-the-renal-pelvis-masquerading-as-malignancy
#1
Dinesh Pradhan, Gabriela Quiroga-Garza, Ronald Hrebinko, Rajiv Dhir, Anil V Parwani
Epidermoid cyst of the renal pelvis is exceptionally rare. The histogenetic mechanism has not been well characterized. Herein, we report a case of intrarenal epidermoid cyst in a 62-year-old woman who had undergone left nephrolithotomy for a staghorn calculus. She was being followed up for bilateral renal cysts when a complex mass was noted arising from the lower pole of the left kidney. Renal ultrasound showed a small left kidney with a solid vascular echogenic mass. A laparoscopic radical nephrectomy was performed...
October 2017: Indian Journal of Pathology & Microbiology
https://www.readbyqxmd.com/read/29220099/supportive-palliative-care-should-be-integrated-into-routine-care-for-paediatric-patients-with-life-limiting-kidney-disease
#2
REVIEW
Julia Thumfart, Tobias Reindl, Cornelia Rheinlaender, Dominik Müller
Paediatric palliative care is no longer restricted to patients with cancer and has been extended to patients with other chronic conditions, such as cystic fibrosis or neuromuscular disorders. This review focused on the current state of palliative care for children and adolescents with chronic kidney disease (CKD). We assessed the literature on CKD published up to August 2017. All the papers, except one from 1996, were published this century. This review discusses the role that palliative care plays in the process of decision-making and explores the possibilities of implementing palliative care into the routine therapy of affected patients and providing support for their families...
December 8, 2017: Acta Paediatrica
https://www.readbyqxmd.com/read/29217307/autosomal-dominant-tubulointerstitial-kidney-disease-due-to-muc1-mutation
#3
Samuel Mon-Wei Yu, Anthony J Bleyer, Kisra Anis, Leal Herlitz, Martina Živná, Helena Hůlková, Glen S Markowitz, Belinda Jim
Mucin 1 kidney disease, previously referred to as medullary cystic kidney disease type 1, is a rare hereditary kidney disease. It is one of several diseases now termed autosomal dominant tubulointerstitial kidney disease, as proposed by a KDIGO (Kidney Disease: Improving Global Outcomes) consensus report in 2014. Autosomal dominant tubulointerstitial kidney diseases share common clinical findings, such as autosomal dominant inheritance, bland urinary sediment, absent to mild proteinuria, and progressive loss of kidney function...
December 4, 2017: American Journal of Kidney Diseases: the Official Journal of the National Kidney Foundation
https://www.readbyqxmd.com/read/29215110/quercetin-inhibits-renal-cyst-growth-in-vitro-and-via-parenteral-injection-in-a-polycystic-kidney-disease-mouse-model
#4
Yangyang Zhu, Tian Teng, Hu Wang, Hao Guo, Lei Du, Baoxue Yang, Xiaoxing Yin, Ying Sun
Autosomal dominant polycystic kidney disease (ADPKD) is a common monogenic disease characterized by massive enlargement of fluid-filled cysts in the kidney. There is an urgent need to develop effective ADPKD therapies. We used an in vitro Madin-Darby canine kidney (MDCK) cyst model and a murine embryonic kidney cyst model to evaluate whether quercetin inhibits cyst development. We then used a polycystic kidney disease (PKD) mouse model to further determine the in vivo effects of quercetin (100 mg per kg body weight twice per day) on PKD mice via subcutaneous injections...
December 7, 2017: Food & Function
https://www.readbyqxmd.com/read/29187303/prevalence-and-characteristics-of-chronic-kidney-disease-among-danish-adults-with-cystic-fibrosis
#5
Kristina H Berg, Lene Ryom, Daniel Faurholt-Jepsen, Tania Pressler, Terese L Katzenstein
BACKGROUND: With improved prognosis of CF, comorbidities including chronic kidney disease (CKD) are becoming increasingly important. Identification of those at highest CKD risk is hence a priority. METHODS: In this cross-sectional study, adults with CF attending the Copenhagen CF Centre at Rigshospitalet with ≥2 measurements of serum creatinine from 2013 to 2015 were included. Data was obtained from an electronic CF database, which contains anonymised clinical and laboratory data on all individuals attending the clinic...
November 27, 2017: Journal of Cystic Fibrosis: Official Journal of the European Cystic Fibrosis Society
https://www.readbyqxmd.com/read/29181500/perinatal-diagnosis-management-and-follow-up-of-cystic-renal-diseases-a-clinical-practice-recommendation-with-systematic-literature-reviews
#6
Charlotte Gimpel, Fred E Avni, Carsten Bergmann, Metin Cetiner, Sandra Habbig, Dieter Haffner, Jens König, Martin Konrad, Max C Liebau, Lars Pape, Georg Rellensmann, Andrea Titieni, Constantin von Kaisenberg, Stefanie Weber, Paul J D Winyard, Franz Schaefer
Importance: Prenatal and neonatal cystic kidney diseases are a group of rare disorders manifesting as single, multiple unilateral, or bilateral cysts or with increased echogenicity of the renal cortex without macroscopic cysts. They may be accompanied by grossly enlarged kidneys, renal oligohydramnios, pulmonary hypoplasia, extrarenal abnormalities, and neonatal kidney failure. The prognosis is extremely variable from trivial to very severe or even uniformly fatal, which poses significant challenges to prenatal counseling and management...
November 27, 2017: JAMA Pediatrics
https://www.readbyqxmd.com/read/29178879/residual-renal-function-in-chronic-dialysis-is-not-associated-with-reduced-erythropoietin-stimulating-agent-dose-requirements-a-cross-sectional-study
#7
Elizabeth Helene Louw, Mogamat-Yazied Chothia
BACKGROUND: Anaemia is a very common problem in patients with end-stage kidney disease (ESKD) and the use of erythropoietin-stimulating agents (ESA) has revolutionised its treatment. Residual renal function (RRF) is associated with a reduction in ESA resistance and mortality in chronic dialysis. The primary aim was to establish whether RRF has an association with ESA dose requirements in ESKD patients receiving chronic dialysis. METHODS: A single center, cross-sectional study involving 100 chronic dialysis patients was conducted from December 2015 to May 2016...
November 25, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/29169385/standardised-outcomes-in-nephrology-polycystic-kidney-disease-song-pkd-study-protocol-for-establishing-a-core-outcome-set-in-polycystic-kidney-disease
#8
Yeoungjee Cho, Benedicte Sautenet, Gopala Rangan, Jonathan C Craig, Albert C M Ong, Arlene Chapman, Curie Ahn, Dongping Chen, Helen Coolican, Juliana Tze-Wah Kao, Ron Gansevoort, Ronald Perrone, Tess Harris, Vicente Torres, York Pei, Peter G Kerr, Jessica Ryan, Talia Gutman, Martin Howell, Angela Ju, Karine E Manera, Armando Teixeira-Pinto, Lorraine A Hamiwka, Allison Tong
BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is the most common potentially life threatening inherited kidney disease and is responsible for 5-10% of cases of end-stage kidney disease (ESKD). Cystic kidneys may enlarge up to 20 times the weight of a normal kidney due to the growth of renal cysts, and patients with ADPKD have an increased risk of morbidity, premature mortality, and other life-time complications including renal and hepatic cyst and urinary tract infection, intracranial aneurysm, diverticulosis, and kidney pain which impair quality of life...
November 23, 2017: Trials
https://www.readbyqxmd.com/read/29162218/renal-histology-and-mri-in-a-25-year-old-japanese-man-with-nephronophthisis-4%C3%A2
#9
Daisuke Takada, Akinari Sekine, Junko Yabuuchi, Yuta Kogure, Toshiharu Ueno, Masayuki Yamanouchi, Keiichi Sumida, Tatsuya Suwabe, Noriko Hayami, Junichi Hoshino, Kenmei Takaichi, Keiichi Kinowaki, Takeshi Fujii, Kenichi Ohashi, Takayasu Mori, Eisei Sohara, Shinichi Uchida, Yoshifumi Ubara
We investigated a 25-year-old Japanese man who had polycystic kidneys and end-stage renal failure without a positive family history. Ultrasonography revealed enlarged kidneys with increased echogenicity and multiple cystic lesions. MRI showed replacement of both kidneys by cystic lesions without definite walls. Renal biopsy demonstrated interstitial fibrosis, especially at the corticomedullary junction. The residual tubular system showed starfish-like disruption. Tubules with cystic dilation were mainly the distal loop of Henle and the distal tubules since immunohistochemical staining was positive for cytokeratin 7 (the distal loop of Henle and the distal tubule) and Tamm-Horsfall protein (the distal loop of Henle), while being negative for aquaporin 3 (the collecting duct) and CD10 (proximal tubule)...
November 22, 2017: Clinical Nephrology
https://www.readbyqxmd.com/read/29159032/use-of-ceftolozane-tazobactam-in-a-cystic-fibrosis-patient-with-multidrug-resistant-pseudomonas-infection-and-renal-insufficiency
#10
Katie Stokem, Jonathan B Zuckerman, David P Nicolau, Minkey Wungwattana, Edmund H Sears
We report the successful use of ceftolozane/tazobactam (C/T) to treat a pulmonary exacerbation in a 35 year old female, post lung transplant, with cystic fibrosis (CF), malnutrition, chronic kidney disease, and multi-drug resistant Pseudomonas aeruginosa infection (MDR PSA). Given the complexity of the clinical profile, we measured drug levels of C/T during treatment of her current exacerbation to determine pharmacokinetics. The patient achieved an estimated ceftolozane peak of 174.1 μg/mL and trough of 9...
2018: Respiratory Medicine Case Reports
https://www.readbyqxmd.com/read/29156055/analysis-of-an-adtkd-family-with-a-novel-frameshift-mutation-in-muc1-reveals-characteristic-features-of-mutant-muc1-protein
#11
Satoko Yamamoto, Jun-Ya Kaimori, Takuji Yoshimura, Tomoko Namba, Atsuko Imai, Kaori Kobayashi, Ryoichi Imamura, Naotsugu Ichimaru, Kazuto Kato, Akihiro Nakaya, Shiro Takahara, Yoshitaka Isaka
Background: Medullary cystic kidney disease Type 1 is an autosomal dominant tubulointerstitial kidney disease (ADTKD). Recently, mucin 1 (MUC1) was identified as a causal gene of medullary cystic kidney disease (ADTKD-MUC1). However, the MUC1 mutation was found to be a single cytosine insertion in a single copy of the GC-rich variable number of tandem repeats (VNTRs), which are very difficult to analyze by next-generation sequencing. To date, other mutations have not been detected in ADTKD-MUC1, and the mutant MUC1 protein has not been analyzed because of the difficulty of genetically modifying the VNTR sequence...
December 1, 2017: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/29152881/spontaneous-perirenal-hemorrhage-in-hemodialysis-patient-treated-with-selective-embolization-a-case-series-and-review-of-the-literature
#12
Yun Xie, Bo Yang, Gengru Jiang, Wei Lu, Claudio Ronco
INTRODUCTION: Spontaneous perirenal hemorrhage (SPH) or Wunderlich syndrome, is a rare but potentially life-threatening condition. It is characterized by an unexpected bleeding in the kidneys and usually presents as an abdominal pain. Angiography and more recently selective renal arterial embolization are emerging as effective modalities for the diagnosis and treatment of SPH. In this article, we report a total of three cases of SPH in hemodialysis (HD) patients. METHODS: This is the experience of diagnosis and treatment of SPH in HD patients...
November 20, 2017: Hemodialysis International
https://www.readbyqxmd.com/read/29146704/prospective-evaluation-of-kidney-disease-in-joubert-syndrome
#13
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...
December 7, 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
#14
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...
December 7, 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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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