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Genetic kidney disease

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https://www.readbyqxmd.com/read/28346094/drug-library-screening-for-the-identification-of-ionophores-that-correct-the-mistrafficking-disorder-associated-with-oxalosis-kidney-disease
#1
Shurong Hou, Franck Madoux, Louis Scampavia, Jo Ann Janovick, P Michael Conn, Timothy P Spicer
Primary hyperoxaluria is the underlying cause of oxalosis and is a life-threatening autosomal recessive disease, for which treatment may require dialysis or dual liver-kidney transplantation. The most common primary hyperoxaluria type 1 (PH1) is caused by genetic mutations of a liver-specific enzyme alanine:glyoxylate aminotransferase (AGT), which results in the misrouting of AGT from the peroxisomes to the mitochondria. Pharmacoperones are small molecules with the ability to modify misfolded proteins and route them correctly within the cells, which may present an effective strategy to treat AGT misrouting in PH1 disorders...
January 1, 2017: SLAS Discov
https://www.readbyqxmd.com/read/28340843/acquired-acrodermatitis-enteropathica-syndrome-in-a-kidney-transplant-receipt-a-case-report
#2
A Bayraktar, H Bakkaloglu, E Demir, A Turkmen, I F Azamat, Y Caliskan, Ş O Sari, N Buyukbabani, C Baykal, A E Aydin
Acrodermatitis enteropathica syndrome (AE) is a clinical entity that results in severe zinc deficiency. It can be genetic or acquired. Acquired AE has been reported in patients with chronic liver disease, malabsorption syndrome, sickle cell anemia, and chronic renal failure. We present a kidney transplant recipient with skin rash and watery diarrhea. The patient had low serum zinc levels, which quickly resolved after zinc supplementation. Skin biopsy showed cytoplasmic pallor and vacuolization and ballooning degeneration of keratinocytes within the superficial epidermis, which may have led to confluent necrosis of keratinocytes...
April 2017: Transplantation Proceedings
https://www.readbyqxmd.com/read/28340804/preliminary-screening-results-of-fabry-disease-in-kidney-transplantation-patients-a-single-center-study
#3
M Yılmaz, S K Uçar, G Aşçı, E Canda, F A Tan, C Hoşcoşkun, M Çoker, H Töz
Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by the deficiency of alfa-galactosidase A (AGALA) and leads to progressive impairment of renal function in almost all male patients and in a significant proportion of female patients. FD is underdiagnosed or even misdiagnosed in patients undergoing kidney transplantation. We initiated a selective screening study for FD among kidney transplant patients in our center. In this study, 1095 male and female patients were included. Dried blood samples on Guthrie papers were used to analyze galactosidase A enzyme for male patients...
April 2017: Transplantation Proceedings
https://www.readbyqxmd.com/read/28339911/a-null-variant-in-the-apolipoprotein-l3-gene-is-associated-with-non-diabetic-nephropathy
#4
Karl L Skorecki, Jessica H Lee, Carl D Langefeld, Saharon Rosset, Shay Tzur, Walter G Wasser, Revital Shemer, Gregory A Hawkins, Jasmin Divers, Rulan S Parekh, Man Li, Matthew G Sampson, Matthias Kretzler, Martin R Pollak, Shrijal Shah, Daniel Blackler, Brendan Nichols, Michael Wilmot, Seth L Alper, Barry I Freedman, David J Friedman
Background.: Inheritance of apolipoprotein L1 gene ( APOL1 ) renal-risk variants in a recessive pattern strongly associates with non-diabetic end-stage kidney disease (ESKD). Further evidence supports risk modifiers in APOL1 -associated nephropathy; some studies demonstrate that heterozygotes possess excess risk for ESKD or show earlier age at ESKD, relative to those with zero risk alleles. Nearby loci are also associated with ESKD in non-African Americans. Methods.: We assessed the role of the APOL3 null allele rs11089781 on risk of non-diabetic ESKD...
February 20, 2017: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/28337616/follow-up-results-of-patients-with-adck4-mutations-and-the-efficacy-of-coq10-treatment
#5
Mustafa Atmaca, Bora Gulhan, Emine Korkmaz, Mihriban Inozu, Oguz Soylemezoglu, Cengiz Candan, Aysun Karabay Bayazıt, Ahmet Midhat Elmacı, Gonul Parmaksiz, Ali Duzova, Nesrin Besbas, Rezan Topaloglu, Fatih Ozaltin
BACKGROUND: ADCK4-related glomerulopathy is an important differential diagnosis in adolescents with steroid-resistant nephrotic syndrome (SRNS) and/or chronic kidney disease (CKD) of unknown origin. We screened adolescent patients to determine the frequency of ADCK4 mutation and the efficacy of early CoQ10 administration. METHODS: A total of 146 index patients aged 10-18 years, with newly diagnosed non-nephrotic proteinuria, nephrotic syndrome, or chronic renal failure and end-stage kidney disease (ESKD) of unknown etiology were screened for ADCK4 mutation...
March 24, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/28335864/using-zebrafish-to-study-kidney-development-and-disease
#6
Stephanie Jerman, Zhaoxia Sun
The kidneys are a crucial pair of organs that are responsible for filtering the blood to remove waste, maintain electrolyte and water homeostasis, and regulate blood pressure. There are a number of factors, both genetic and environmental, that can impair the function of the kidneys resulting in significant morbidity and mortality for millions of people affected by kidney disease worldwide. The zebrafish, Danio rerio, has emerged as an attractive vertebrate model in the study of kidney development and disease and has proven to be a powerful tool in the advancement of how kidney development occurs in vertebrates and how the kidney repairs itself after injury...
2017: Current Topics in Developmental Biology
https://www.readbyqxmd.com/read/28334964/mutations-in-the-leukemia-inhibitory-factor-receptor-lifr-gene-and-lifr-deficiency-cause-urinary-tract-malformations
#7
Anne Kosfeld, Frank Brand, Anna-Carina Weiss, Martin Kreuzer, Michaela Goerk, Helge Martens, Stephanie Schubert, Anne-Kathrin Schäfer, Vera Riehmer, Imke Hennies, Jan Hinrich Bräsen, Lars Pape, Kerstin Amann, Lars Krogvold, Anna Bjerre, Christoph Daniel, Andreas Kispert, Dieter Haffner, Ruthild G Weber
Congenital anomalies of the kidneys and urinary tract (CAKUT) are the most common cause of chronic kidney disease in children. As CAKUT is a genetically heterogeneous disorder and most cases are genetically unexplained, we aimed to identify new CAKUT causing genes. Using whole-exome sequencing and trio-based de novo analysis, we identified a novel heterozygous de novo frameshift variant in the leukemia inhibitory factor receptor (LIFR) gene causing instability of the mRNA in a patient presenting with bilateral CAKUT and requiring kidney transplantation at one year of age...
March 8, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28333603/focal-segmental-glomerulosclerosis-in-a-patient-with-ambiguous-genitalia-a-diagnostic-dilemma
#8
Oliver E Ross, Dean A Kujubu, John J Sim
The renal condition referred to as focal segmental glomerulosclerosis (FSGS) presents a diagnostic dilemma for the clinician. It encompasses and displays a nonspecific histologic appearance on a kidney biopsy specimen, rather than a unique disease entity. This characteristic of FSGS often makes treatment decisions and prognostication difficult. A 34-year-old man, who was born with ambiguous genitalia, had received a diagnosis of FSGS in young adulthood and now had advanced kidney disease. He underwent genetic testing to determine whether a genetic disorder was underlying his kidney disease and to ascertain his risk of FSGS recurrence if he were to receive a kidney transplant...
2017: Permanente Journal
https://www.readbyqxmd.com/read/28331970/disease-modeling-in-genetic-kidney-diseases-zebrafish
#9
REVIEW
Heiko Schenk, Janina Müller-Deile, Mark Kinast, Mario Schiffer
Growing numbers of translational genomics studies are based on the highly efficient and versatile zebrafish (Danio rerio) vertebrate model. The increasing types of zebrafish models have improved our understanding of inherited kidney diseases, since they not only display pathophysiological changes but also give us the opportunity to develop and test novel treatment options in a high-throughput manner. New paradigms in inherited kidney diseases have been developed on the basis of the distinct genome conservation of approximately 70 % between zebrafish and humans in terms of existing gene orthologs...
March 22, 2017: Cell and Tissue Research
https://www.readbyqxmd.com/read/28327570/puf60-variants-cause-a-syndrome-of-id-short-stature-microcephaly-coloboma-craniofacial-cardiac-renal-and-spinal-features
#10
Karen J Low, Morad Ansari, Rami Abou Jamra, Angus Clarke, Salima El Chehadeh, David R FitzPatrick, Mark Greenslade, Alex Henderson, Jane Hurst, Kory Keller, Paul Kuentz, Trine Prescott, Franziska Roessler, Kaja K Selmer, Michael C Schneider, Fiona Stewart, Katrina Tatton-Brown, Julien Thevenon, Magnus D Vigeland, Julie Vogt, Marjolaine Willems, Jonathan Zonana, D D D Study, Sarah F Smithson
PUF60 encodes a nucleic acid-binding protein, a component of multimeric complexes regulating RNA splicing and transcription. In 2013, patients with microdeletions of chromosome 8q24.3 including PUF60 were found to have developmental delay, microcephaly, craniofacial, renal and cardiac defects. Very similar phenotypes have been described in six patients with variants in PUF60, suggesting that it underlies the syndrome. We report 12 additional patients with PUF60 variants who were ascertained using exome sequencing: six through the Deciphering Developmental Disorders Study and six through similar projects...
March 22, 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28326182/birt-hogg-dub%C3%A3-syndrome-a-case-report-and-a-review-of-the-literature
#11
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/28325081/lipid-deposition-in-kidney-diseases-interplay-among-redox-lipid-mediators-and-renal-impairment
#12
Hua Su, Cheng Wan, Chun-Tao Lei, Chun-Yun Zhang, Chen Ye, Hui Tang, Yue Qiu, Chun Zhang
Lipids encompass a large variety of molecules representing a highly efficient energy resource and forming structural components of membranes or signaling molecules that regulate diverse cellular events underlying not only physiological homeostatic processes but also undesirable pathogenic outcomes. The relationship between lipid disturbances and renal diseases has been studied for several decades, and it is well-recognized that when the balance of renal lipid uptake, synthesis, oxidation and outflow is disrupted, lipids will undergo oxidation, be sequestrated as lipid droplets, generate toxic metabolites and cause nephrotoxicity in diverse renal diseases...
March 22, 2017: Antioxidants & Redox Signaling
https://www.readbyqxmd.com/read/28321325/assessing-risk-of-disease-progression-and-pharmacological-management-of-autosomal-dominant-polycystic-kidney-disease-a-canadian-expert-consensus
#13
Steven Soroka, Ahsan Alam, Micheli Bevilacqua, Louis-Philippe Girard, Paul Komenda, Rolf Loertscher, Philip McFarlane, Sanjaya Pandeya, Paul Tam, Daniel G Bichet
Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited renal disorder worldwide. The disease is characterized by renal cysts and progressive renal failure due to progressive enlargement of cysts and renal fibrosis. An estimated 45% to 70% of patients with ADPKD progress to end-stage renal disease by age 65 years. Although both targeted and nontargeted therapies have been tested in patients with ADPKD, tolvaptan is currently the only pharmacological therapy approved in Canada for the treatment of ADPKD...
2017: Canadian Journal of Kidney Health and Disease
https://www.readbyqxmd.com/read/28320755/ciliary-mechanisms-of-cyst-formation-in-polycystic-kidney-disease
#14
Ming Ma, Anna-Rachel Gallagher, Stefan Somlo
Autosomal-dominant polycystic kidney disease (ADPKD) is a disease of defective tissue homeostasis resulting in active remodeling of nephrons and bile ducts to form fluid-filled sacs called cysts. The causal genes PKD1 and PKD2 encode transmembrane proteins polycystin 1 (PC1) and polycystin 2 (PC2), respectively. Together, the polycystins localize to the solitary primary cilium that protrudes from the apical surface of most kidney tubule cells and is thought to function as a privileged compartment that the cell uses for signal integration of sensory inputs...
March 20, 2017: Cold Spring Harbor Perspectives in Biology
https://www.readbyqxmd.com/read/28314735/non-alcoholic-fatty-liver-disease-and-its-relationship-with-cardiovascular-disease-and-other-extrahepatic-diseases
#15
REVIEW
Leon A Adams, Quentin M Anstee, Herbert Tilg, Giovanni Targher
Key physiological functions of the liver, including glucose and lipid metabolism, become disturbed in the setting of non-alcoholic fatty liver disease (NAFLD) and may be associated with a systemic inflammatory 'milieu' initiated in part by liver-secreted cytokines and molecules. Consequently, the pathophysiological effects of NAFLD extend beyond the liver with a large body of clinical evidence demonstrating NAFLD to be independently associated with both prevalent and incident cardiovascular disease (CVD), chronic kidney disease (CKD) and type 2 diabetes mellitus (T2DM)...
March 17, 2017: Gut
https://www.readbyqxmd.com/read/28306565/can-podocytes-be-regenerated-in-adults
#16
Stuart J Shankland, Benjamin S Freedman, Jeffrey W Pippin
PURPOSE OF REVIEW: Podocytes are critical components of the nephron filtration barrier and are depleted in many kidney injuries and disease states. Terminally differentiated adult podocytes are highly specialized, postmitotic cells, raising the question of whether the body has any ability to regenerate lost podocytes. This timely question has recently been illuminated by a series of innovative studies. Here, we review recent progress on this topic of significant interest and debate. RECENT FINDINGS: The innovation of genetic labeling techniques enables fate tracing of individual podocytes, providing the strongest evidence yet that podocytes can be replaced by nearby progenitor cells...
March 16, 2017: Current Opinion in Nephrology and Hypertension
https://www.readbyqxmd.com/read/28302901/treatment-of-renal-angiomyolipoma-and-other-hamartomas-in-patients-with-tuberous-sclerosis-complex
#17
REVIEW
Joshua A Samuels
Tuberous sclerosis complex is an autosomal dominant genetic disease characterized by growth of benign tumors (hamartomas) in multiple organs, especially the kidneys, brain, heart, lungs, and skin. Tuberous sclerosis complex is usually caused by a mutation in either the tuberous sclerosis complex 1 or tuberous sclerosis complex 2 gene, resulting in constitutive activation of mammalian target of rapamycin signaling. Currently, mammalian target of rapamycin inhibitors are recommended in adult patients with tuberous sclerosis complex for the treatment of asymptomatic, growing renal angiomyolipoma that are >3 cm in diameter and pediatric or adult patients with brain lesions (subependymal giant cell astrocytoma) that either are growing or are not amenable to surgical resection...
March 16, 2017: Clinical Journal of the American Society of Nephrology: CJASN
https://www.readbyqxmd.com/read/28302371/urinary-metabolites-along-with-common-and-rare-genetic-variations-are-associated-with-incident-chronic-kidney-disease
#18
Gearoid M McMahon, Shih-Jen Hwang, Clary B Clish, Adrienne Tin, Qiong Yang, Martin G Larson, Eugene P Rhee, Man Li, Daniel Levy, Christopher J O'Donnell, Josef Coresh, J Hunter Young, Robert E Gerszten, Caroline S Fox
We assessed the association between urinary metabolites, genetic variants, and incident chronic kidney disease (CKD) in the Framingham Offspring cohort. Among the participants, 193 individuals developed CKD (estimated glomerular filtration rate under 60 ml/min/1.73m(2)) between cohort examinations 6 (1995-1998) and 8 (2005-2008, mean follow-up 9.7 years). They were age- and sex-matched to 193 control individuals free of CKD. A total of 154 urinary metabolites were measured using mass spectrometry, and the association between metabolites and CKD was examined using logistic regression...
March 14, 2017: Kidney International
https://www.readbyqxmd.com/read/28298732/imaging-of-tuberous-sclerosis-complex-a-pictorial-review
#19
Felipe Mussi von Ranke, Igor Murad Faria, Gláucia Zanetti, Bruno Hochhegger, Arthur Soares Souza, Edson Marchiori
Tuberous sclerosis complex (TSC) is a genetically determined hamartomatous neurocutaneous disease with high phenotypic variability. TSC is characterized by widespread hamartomas and benign, or rarely malignant, neoplasms distributed in several organs throughout the body, especially in the brain, skin, retina, kidney, heart, and lung. Common manifestations include cortical tubers, subependymal nodules, white matter abnormalities, retinal abnormalities, cardiac rhabdomyoma, lymphangioleiomyomatosis, renal angiomyolipoma, and skin lesions...
January 2017: Radiologia Brasileira
https://www.readbyqxmd.com/read/28298181/early-onset-of-adck4-glomerulopathy-with-renal-failure-a-case-report
#20
Ksenija Lolin, Benedetta D Chiodini, Elise Hennaut, Brigitte Adams, Karin Dahan, Khalid Ismaili
BACKGROUND: We present a rare early presentation of a ADCK4-related glomerulopathy. This case is of interest as potentially treatable if genetic results are timely obtained. CASE PRESENTATION: We report the case of a 5-year-old boy who was identified with significant proteinuria by a urinary routine screening program for school children. Physical examination revealed dysplastic ears and abnormal folded pinna. Albumin level was 41 g/L (39-53 g/L), and urine proteins/creatinine ratio was 2...
March 16, 2017: BMC Medical Genetics
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