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Genetic kidney disease

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https://www.readbyqxmd.com/read/28818080/standardized-systemic-phenotypic-analysis-reveals-kidney-dysfunction-as-main-alteration-of-kctd1-i27n-mutant-mice
#1
Sudhir Kumar, Birgit Rathkolb, Sibylle Sabrautzki, Stefan Krebs, Elisabeth Kemter, Lore Becker, Johannes Beckers, Raffi Bekeredjian, Robert Brommage, Julia Calzada-Wack, Lillian Garrett, Sabine M Hölter, Marion Horsch, Martin Klingenspor, Thomas Klopstock, Kristin Moreth, Frauke Neff, Jan Rozman, Helmut Fuchs, Valérie Gailus-Durner, Martin Hrabe de Angelis, Eckhard Wolf, Bernhard Aigner
BACKGROUND: Increased levels of blood plasma urea were used as phenotypic parameter for establishing novel mouse models for kidney diseases on the genetic background of C3H inbred mice in the phenotype-driven Munich ENU mouse mutagenesis project. The phenotypically dominant mutant line HST014 was established and further analyzed. METHODS: Analysis of the causative mutation as well as the standardized, systemic phenotypic analysis of the mutant line was carried out...
August 17, 2017: Journal of Biomedical Science
https://www.readbyqxmd.com/read/28815356/dent-disease-in-poland-what-we-have-learned-so-far
#2
Marcin Zaniew, Małgorzata Mizerska-Wasiak, Iga Załuska-Leśniewska, Piotr Adamczyk, Katarzyna Kiliś-Pstrusińska, Adam Haliński, Jan Zawadzki, Beata S Lipska-Ziętkiewicz, Krzysztof Pawlaczyk, Przemysław Sikora, Michael Ludwig, Maria Szczepańska
PURPOSE: Dent disease (DD) is a rare tubulopathy characterized by proximal tubular dysfunction leading to chronic kidney disease (CKD). The aim of the study was to characterize patients with DD in Poland. METHODS: A retrospective analysis of a national cohort with genetically confirmed diagnosis. RESULTS: Of 24 males, all patients except one carried mutations in the CLCN5 gene; in one patient a mutation in the OCRL gene was disclosed. Molecular diagnosis was delayed 1 year on average (range 0-21 years)...
August 16, 2017: International Urology and Nephrology
https://www.readbyqxmd.com/read/28812986/epigenome-aberrations-emerging-driving-factors-of-the-clear-cell-renal-cell-carcinoma
#3
REVIEW
Ali Mehdi, Yasser Riazalhosseini
Clear cell renal cell carcinoma (ccRCC), the most common form of Kidney cancer, is characterized by frequent mutations of the von Hippel-Lindau (VHL) tumor suppressor gene in ~85% of sporadic cases. Loss of pVHL function affects multiple cellular processes, among which the activation of hypoxia inducible factor (HIF) pathway is the best-known function. Constitutive activation of HIF signaling in turn activates hundreds of genes involved in numerous oncogenic pathways, which contribute to the development or progression of ccRCC...
August 16, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28812535/associating-mutations-causing-cystinuria-with-disease-severity-with-the-aim-of-providing-precision-medicine
#4
Henry J Martell, Kathie A Wong, Juan F Martin, Ziyan Kassam, Kay Thomas, Mark N Wass
BACKGROUND: Cystinuria is an inherited disease that results in the formation of cystine stones in the kidney, which can have serious health complications. Two genes (SLC7A9 and SLC3A1) that form an amino acid transporter are known to be responsible for the disease. Variants that cause the disease disrupt amino acid transport across the cell membrane, leading to the build-up of relatively insoluble cystine, resulting in formation of stones. Assessing the effects of each mutation is critical in order to provide tailored treatment options for patients...
August 11, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28808849/a-rapid-method-for-establishment-of-a-reverse-genetics-system-for-canine-parvovirus
#5
Yongle Yu, Jun Su, Jigui Wang, Ji Xi, Yaping Mao, Qiang Hou, Xiaomei Zhang, Weiquan Liu
Canine parvovirus (CPV) is an important and highly prevalent pathogen of dogs that causes acute hemorrhagic enteritis disease. Here, we describe a rapid method for the construction and characterization of a full-length infectious clone (rCPV) of CPV. Feline kidney (F81) cells were transfected with rCPV incorporating an engineered EcoR I site that served as a genetic marker. The rescued virus was indistinguishable from that of wild-type virus in its biological properties.
August 14, 2017: Virus Genes
https://www.readbyqxmd.com/read/28808057/a-kidney-specific-genetic-control-module-in-mice-governs-endocrine-regulation-of-the-cytochrome-p450-gene-cyp27b1-essential-for-vitamin-d3-activation
#6
Mark B Meyer, Nancy A Benkusky, Martin Kaufmann, Seong Min Lee, Melda Onal, Glenville Jones, J Wesley Pike
The vitamin D endocrine system regulates mineral homeostasis through its activities in the intestine, kidney, and bone. Terminal activation of vitamin D3 to its hormonal form, 1,25(OH)2D3, occurs in the kidney via the cytochrome P450 enzyme CYP27B1. Despite its importance in vitamin D metabolism, the molecular mechanisms underlying the regulation of the gene for this enzyme, Cyp27b1, are unknown. Here, we identified a kidney-specific control module governed by a renal cell-specific chromatin structure located distal to Cyp27b1 that mediates unique basal and parathyroid hormone (PTH)-, fibroblast growth factor 23 (FGF23)-, and 1,25(OH)2D3-mediated regulation of Cyp27b1 expression...
August 14, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28806200/quality-of-anticoagulation-control-and-hemorrhage-risk-among-african-american-and-european-american-warfarin-users
#7
Nita A Limdi, Todd M Brown, Aditi Shendre, Nianjun Liu, Charles E Hill, Timothy M Beasley
OBJECTIVE: We evaluated whether percent time in target range (PTTR), risk of over-anticoagulation [international normalized ratio (INR)>4], and risk of hemorrhage differ by race. As PTTR is a strong predictor of hemorrhage risk, we also determined the influence of PTTR on the risk of hemorrhage by race. PARTICIPANTS AND METHODS: Among 1326 warfarin users, PTTR was calculated as the percentage of interpolated INR values within the target range of 2.0-3.0. PTTR was also categorized as poor (PTTR<60%), good (60≤PTTR<70%), or excellent (PTTR≥70%) anticoagulation control...
August 11, 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/28806188/tubulointerstitial-nephritis-and-uveitis
#8
Kaivon Pakzad-Vaezi, Kathryn L Pepple
PURPOSE OF REVIEW: Tubulointerstitial nephritis and uveitis (TINU) is an important yet underrecognized ocular inflammatory syndrome. This review summarizes key historical publications that identified and defined the syndrome, and more recent literature that reveal the importance of urinary β2-microglobulin testing and kidney biopsy in the diagnostic evaluation of patients with TINU. Additionally, research studies providing new insights into disease pathogenesis are highlighted. RECENT FINDINGS: In contrast with initial reports of TINU manifesting exclusively as an anterior uveitis in pediatric patients, more recent reports have identified TINU in patients of all ages with a wide range of ocular manifestations...
August 12, 2017: Current Opinion in Ophthalmology
https://www.readbyqxmd.com/read/28805579/nonmotor-manifestations-of-wilson-s-disease
#9
Samar Biswas, Neelanjana Paul, Shyamal K Das
Wilson disease (WD) is an autosomal genetic disorder characterized by excessive copper deposition initially in liver (hepatic variant) followed by brain (neuropsychiatric variant) and other organs such as cornea and kidney due to defect in biliary copper excretion. Predominant presentations of neuropsychiatric variant are extrapyramidal motor dysfunctions such as dystonias, Parkinsonism, choreoathetosis, tremor, and ataxias. Nonmotor symptoms (NMS) can appear before clinical disease expression and during ongoing disease process...
2017: International Review of Neurobiology
https://www.readbyqxmd.com/read/28803024/a-comparison-of-splicing-assays-to-detect-an-intronic-variant-of-the-ocrl-gene-in-lowe-syndrome
#10
Keita Nakanishi, Kandai Nozu, Ryugo Hiramoto, Shogo Minamikawa, Tomohiko Yamamura, Junya Fujimura, Tomoko Horinouchi, Takeshi Ninchoji, Hiroshi Kaito, Naoya Morisada, Shingo Ishimori, Koichi Nakanishi, Ichiro Morioka, Hiroyuki Awano, Masafumi Matsuo, Kazumoto Iijima
Lowe syndrome is an X-linked inherited disorder diagnosed by congenital cataracts, intellectual impairment, and renal tubular dysfunction. It is caused by pathogenic variants of the oculocerebrorenal syndrome of Lowe gene (OCRL), of which more than 250 have been reported so far. Around 30 of these variants are intronic nucleotide changes; however, to show the pathogenicity of these variants is usually laborious. In this report, we conducted genetic testing of a patient clinically diagnosed with Lowe syndrome to detect the presence of OCRL variants...
August 9, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28801578/basophils-contribute-to-pristane-induced-lupus-like-nephritis-model
#11
Barbara Dema, Yasmine Lamri, Christophe Pellefigues, Emeline Pacreau, Fanny Saidoune, Caroline Bidault, Hajime Karasuyama, Karim Sacré, Eric Daugas, Nicolas Charles
Lupus nephritis (LN), one of the most severe outcomes of systemic lupus erythematosus (SLE), is initiated by glomerular deposition of immune-complexes leading to an inflammatory response and kidney failure. Autoantibodies to nuclear antigens and autoreactive B and T cells are central in SLE pathogenesis. Immune mechanisms amplifying this autoantibody production drive flares of the disease. We previously showed that basophils were contributing to LN development in a spontaneous lupus-like mouse model (constitutive Lyn (-/-) mice) and in SLE subjects through their activation and migration to secondary lymphoid organs (SLOs) where they amplify autoantibody production...
August 11, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28801314/macrophage-migration-inhibitory-factor-limits-renal-inflammation-and-fibrosis-by-counteracting-tubular-cell-cycle-arrest
#12
Sonja Djudjaj, Ina V Martin, Eva M Buhl, Nina J Nothofer, Lin Leng, Marta Piecychna, Jürgen Floege, Jürgen Bernhagen, Richard Bucala, Peter Boor
Renal fibrosis is a common underlying process of progressive kidney diseases. We investigated the role of macrophage migration inhibitory factor (MIF), a pleiotropic proinflammatory cytokine, in this process. In mice subjected to unilateral ureteral obstruction, genetic deletion or pharmacologic inhibition of MIF aggravated fibrosis and inflammation, whereas treatment with recombinant MIF was beneficial, even in established fibrosis. In two other models of progressive kidney disease, global Mif deletion or MIF inhibition also worsened fibrosis and inflammation and associated with worse kidney function...
August 11, 2017: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/28798244/atypical-haemolytic-uremic-syndrome-ahus-and-membranoproliferative-glomerulonephritis-mpgn-different-diseases-or-a-spectrum-of-complement-mediated-glomerular-diseases
#13
Ghada A Ankawi, William F Clark
Historically, patients with kidney diseases caused by genetic or acquired dysregulation of the complement alternative pathway have been grouped into clinical syndromes, C3 glomerulopathy (C3GN/DDD) and thrombotic microangiopathy (TMA), specifically atypical haemolytic uremic syndrome (aHUS). Recent data suggested that these diseases share a common pathophysiology and that patients can transition between glomerulopathies in this spectrum. Histopathologically, the main difference cited is the immunofluorescence (IF) findings, with C3 predominance in C3 glomerulopathy (compared with immunoglobulins and complements in immune complex-mediated membranoproliferative glomerulonephritis (MPGN)) and negative IF in TMA...
August 10, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28794363/renal-cell-carcinoma-and-a-pancreatic-neuroendocrine-tumor-a-coincidence-or-instance-of-von-hippel-lindau-disease
#14
Hiroyuki Matsubayashi, Masashi Niwakawa, Katsuhiko Uesaka, Keiko Sasaki, Yoshimi Kiyozumi, Hirotoshi Ishiwatari, Kinichi Hotta, Kenichiro Imai, Sayo Ito, Kohei Takizawa, Masaki Tanaka, Noboru Kawata, Naomi Kakushima, Hiroyuki Ono
We herein report a rare case of a 79-year-old man who presented with the simultaneous occurrence of pancreatic neuroendocrine tumors (PNET) and renal cell carcinomas (RCC), without any other Von Hippel-Lindau (VHL)-associated lesions or any pertinent family history. Computed tomography showed vascular-rich solid lesions in the left kidney and the pancreatic tail, measuring 72 mm and 15 mm in size, respectively. Preoperatively, RCC with pancreatic metastasis was suspected and laparotomy was performed. However, the resected specimens revealed a different tumor histology, namely renal clear cell carcinoma (G2, pT3) and PNET (G1, pT3)...
August 10, 2017: Internal Medicine
https://www.readbyqxmd.com/read/28793914/performance-of-gout-definitions-for-genetic-epidemiological-studies-analysis-of-uk-biobank
#15
Murray Cadzow, Tony R Merriman, Nicola Dalbeth
BACKGROUND: Many different combinations of available data have been used to identify gout cases in large genetic studies. The aim of this study was to determine the performance of case definitions of gout using the limited items available in multipurpose cohorts for population-based genetic studies. METHODS: This research was conducted using the UK Biobank Resource. Data, including genome-wide genotypes, were available for 105,421 European participants aged 40-69 years without kidney disease...
August 9, 2017: Arthritis Research & Therapy
https://www.readbyqxmd.com/read/28792715/mutational-screening-of-pkd1-and-pkd2-genes-in-iranian-population-diagnosed-with-autosomal-dominant-polycystic-kidney-disease
#16
Fariba Ranjzad, Ahmad Tara, Abbas Basiri, Nasser Aghdami, Reza Moghadasali
BACKGROUND: Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the fourth most frequent cause of endstage renal disease (ESDR), occurring at a varying frequency of 1/400 to 1/800 persons. The disease affects all ethnic groups worldwide, and there is a need for population based studies to be carried out for better diagnostic, genetic counselling, and treatment purpose. METHODS: Eighteen unrelated probands (10 males and 8 females) with a familial history of ADPKD were selected for the study...
July 1, 2017: Clinical Laboratory
https://www.readbyqxmd.com/read/28782656/genetics-and-mechanisms-of-hepatic-cystogenesis
#17
REVIEW
L F M van de Laarschot, J P H Drenth
Polycystic liver disease (PLD) is a heterogeneous genetic condition. PKD1 and PKD2 germline mutations are found in patients with autosomal dominant polycystic kidney disease (ADPKD). Autosomal dominant polycystic liver disease (ADPLD) is associated with germline mutations in PRKCSH, SEC63, LRP5, and recently ALG8, and SEC61. GANAB mutations are found in both patient groups. Loss of heterozygosity of PLD-genes in cyst epithelium contributes to the development of hepatic cysts. A genetic interaction network is implied in hepatic cystogenesis that connects the endoplasmic glycoprotein control mechanisms and polycystin expression and localization...
August 4, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28781372/uromodulin-from-physiology-to-rare-and-complex-kidney-disorders
#18
REVIEW
Olivier Devuyst, Eric Olinger, Luca Rampoldi
Uromodulin (also known as Tamm-Horsfall protein) is exclusively produced in the kidney and is the most abundant protein in normal urine. The function of uromodulin remains elusive, but the available data suggest that this protein might regulate salt transport, protect against urinary tract infection and kidney stones, and have roles in kidney injury and innate immunity. Interest in uromodulin was boosted by genetic studies that reported involvement of the UMOD gene, which encodes uromodulin, in a spectrum of rare and common kidney diseases...
September 2017: Nature Reviews. Nephrology
https://www.readbyqxmd.com/read/28777943/mesenchymal-stem-cells-in-fibrotic-disease
#19
REVIEW
Elie El Agha, Rafael Kramann, Rebekka K Schneider, Xiaokun Li, Werner Seeger, Benjamin D Humphreys, Saverio Bellusci
Fibrosis is associated with organ failure and high mortality and is commonly characterized by aberrant myofibroblast accumulation. Investigating the cellular origin of myofibroblasts in various diseases is thus a promising strategy for developing targeted anti-fibrotic treatments. Recent studies using genetic lineage tracing technology have implicated diverse organ-resident perivascular mesenchymal stem cell (MSC)-like cells and bone marrow-MSCs in myofibroblast generation during fibrosis development. In this Review, we give an overview of the emerging role of MSCs and MSC-like cells in myofibroblast-mediated fibrotic disease in the kidney, lung, heart, liver, skin, and bone marrow...
August 3, 2017: Cell Stem Cell
https://www.readbyqxmd.com/read/28776935/shorter-telomere-length-increases-age-related-tumor-risks-in-von-hippel-lindau-disease-patients
#20
Jiang-Yi Wang, Shuang-He Peng, Xiang-Hui Ning, Teng Li, Sheng-Jie Liu, Jia-Yuan Liu, Bao-An Hong, Nie-Nie Qi, Xiang Peng, Bo-Wen Zhou, Jiu-Feng Zhang, Lin Cai, Kan Gong
Von Hippel-Lindau (VHL) disease is a rare autosomal dominant cancer syndrome caused by alterations of VHL gene. Patients are predisposed to develop pheochromocytomas and solid or cystic tumors of the central nervous system, kidney, pancreas, and retina. Remarkable phenotypic heterogeneity exits in organ involvement and tumor onset age between and within VHL families. However, no reliable markers have been found to predict the age-related tumor risks in VHL patients. A large Chinese cohort composed of 300 VHL patients and 92 healthy family controls was enrolled in our study...
August 4, 2017: Cancer Medicine
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