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Genetic kidney disease

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https://www.readbyqxmd.com/read/29786190/-identification-of-a-new-mutation-of-the-nphp1-gene
#1
Antonella La Russa, Rosa Anna Cifarelli, Anna Perri, Angelo Saracino, Giovanni Santarsia, Renzo Bonofiglio
Kidney cystic diseases are inherited disorders causing chronic renal failure. According to the genetic defect they are classified as diseases of the primary ciliary complex and uromodulin-associated diseases. Mutations in genes coding for ciliary proteins are the basis of a broad category of genetic diseases, called ciliopathies. To date, three important ciliopathies are known: the autosomal dominant form and the recessive shape of the polycystic kidney and the nephronophthisis (NPHP). Juvenile Nephronophthisis (NPHP) is a progressive renal tubulo-interstitial disorder with a form of autosomal recessive inheritance that progresses inexorably towards terminal renal failure...
May 2018: Giornale Italiano di Nefrologia: Organo Ufficiale Della Società Italiana di Nefrologia
https://www.readbyqxmd.com/read/29784615/autosomal-dominant-tubulointerstitial-kidney-disease-clinical-presentation-of-patients-with-adtkd-umod-and-adtkd-muc1
#2
Nadia Ayasreh, Gemma Bullich, Rosa Miquel, Mónica Furlano, Patricia Ruiz, Laura Lorente, Oliver Valero, Miguel Angel García-González, Nisrine Arhda, Intza Garin, Víctor Martínez, Vanessa Pérez-Gómez, Xavier Fulladosa, David Arroyo, Alberto Martínez-Vea, Mario Espinosa, Jose Ballarín, Elisabet Ars, Roser Torra
RATIONALE & OBJECTIVE: Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a rare underdiagnosed cause of end-stage renal disease (ESRD). ADTKD is caused by mutations in at least 4 different genes: MUC1, UMOD, HNF1B, and REN. STUDY DESIGN: Retrospective cohort study. SETTING & PARTICIPANTS: 56 families (131 affected individuals) with ADTKD referred from different Spanish hospitals. Clinical, laboratory, radiologic, and pathologic data were collected, and genetic testing for UMOD, MUC1, REN, and HNF1B was performed...
May 18, 2018: American Journal of Kidney Diseases: the Official Journal of the National Kidney Foundation
https://www.readbyqxmd.com/read/29782633/macrothrombocytopenia-renal-dysfunction-and-nephrotic-syndrome-in-a-young-male-patient-a-case-report-of-myh9-related-disease
#3
Gabriela Sevignani, Giovana Memari Pavanelli, Sibele Sauzem Milano, Bianca Ramos Ferronato, Maria Aparecida Pachaly, Hae Ii Cheong, Mauricio de Carvalho, Fellype Carvalho Barreto
MYH9-related disease is an autosomal dominant disorder caused by mutations of the MYH9 gene, which encodes the non-muscle myosin heavy chain IIA on chromosome 22q12. It is characterized by congenital macrothrombocytopenia, bleeding tendency, hearing loss, and cataracts. Nephropathy occurs in approximately 30% of MYH9-related disease in a male patient carrier of a de novo missense mutation in exon 1 of the MYH9 gene [c.287C > T; p.Ser(TCG)96(TTG)Leu]. He presented all phenotypic manifestations of the disease, but cataracts...
May 17, 2018: Jornal Brasileiro de Nefrologia: ʹorgão Oficial de Sociedades Brasileira e Latino-Americana de Nefrologia
https://www.readbyqxmd.com/read/29782307/cutaneous-manifestations-of-tuberous-sclerosis
#4
Mirjana Bakić, Marina Ratković, Branka Gledović, Balsa Vujović, Danilo Radunović, Vera Babić, Vladimir Prelević
Dear Editor, Tuberous sclerosis (TS) is an autosomal dominant multisystem disease, which occurs due to genetically determined hyperplasia of ectodermal and mesodermal cells. Clinical manifestations present on the skin and in the nervous system, kidneys, heart, and other organs. Recent studies estimate the incidence of TS at 1/6000 to 1/10,000 live births, and a prevalence in the general population of approximately 1 in 20,000 (1). There are two different genetic loci responsible for TS: 9q34 (TSC1-hamartin) and 16p13...
April 2018: Acta Dermatovenerologica Croatica: ADC
https://www.readbyqxmd.com/read/29779033/genome-wide-association-study-of-renal-function-traits-results-from-the-japan-multi-institutional-collaborative-cohort-study
#5
Asahi Hishida, Masahiro Nakatochi, Masato Akiyama, Yoichiro Kamatani, Takeshi Nishiyama, Hidemi Ito, Isao Oze, Yuichiro Nishida, Megumi Hara, Naoyuki Takashima, Tanvir Chowdhury Turin, Miki Watanabe, Sadao Suzuki, Rie Ibusuki, Ippei Shimoshikiryo, Yohko Nakamura, Haruo Mikami, Hiroaki Ikezaki, Norihiro Furusyo, Kiyonori Kuriki, Kaori Endoh, Teruhide Koyama, Daisuke Matsui, Hirokazu Uemura, Kokichi Arisawa, Tae Sasakabe, Rieko Okada, Sayo Kawai, Mariko Naito, Yukihide Momozawa, Michiaki Kubo, Kenji Wakai
BACKGROUND: Chronic kidney disease (CKD) is a rapidly growing, worldwide public health problem. Recent advances in genome-wide-association studies (GWAS) revealed several genetic loci associated with renal function traits worldwide. METHODS: We investigated the association of genetic factors with the levels of serum creatinine (SCr) and the estimated glomerular filtration rate (eGFR) in Japanese population-based cohorts analyzing the GWAS imputed data with 11,221 subjects and 12,617,569 variants, and replicated the findings with the 148,829 hospital-based Japanese subjects...
May 18, 2018: American Journal of Nephrology
https://www.readbyqxmd.com/read/29777021/serum-6-bromotryptophan-levels-identified-as-a-risk-factor-for-ckd-progression
#6
Adrienne Tin, Girish Nadkarni, Anne M Evans, Cheryl A Winkler, Erwin Bottinger, Casey M Rebholz, Mark J Sarnak, Lesley A Inker, Andrew S Levey, Michael S Lipkowitz, Lawrence J Appel, Dan E Arking, Josef Coresh, Morgan E Grams
Background Metabolite levels reflect physiologic homeostasis and may serve as biomarkers of disease progression. Identifying metabolites associated with APOL1 risk alleles-genetic variants associated with CKD risk commonly present in persons of African descent-may reveal novel markers of CKD progression relevant to other populations. Methods We evaluated associations between the number of APOL1 risk alleles and 760 serum metabolites identified via untargeted profiling in participants of the African American Study of Kidney Disease and Hypertension (AASK) ( n =588; Bonferroni significance threshold P <6...
May 18, 2018: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/29774463/early-cardiovascular-manifestations-in-children-and-adolescents-with-autosomal-dominant-polycystic-kidney-disease-a-single-center-study
#7
Vasiliki Karava, Cherine Benzouid, Julien Hogan, Claire Dossier, André Pierre Denjean, Georges Deschênes
BACKGROUND: This study aims to describe the cardiovascular manifestations in children with autosomal dominant polycystic kidney disease (ADPKD) and detect their relation with kidney disease and type of gene mutation. METHODS: Twenty-one patients (7 to 19 years old) were included. Cardiovascular evaluation involved blood pressure (BP), indexed left ventricular mass (LVMI), pulse wave velocity (PWV), and carotid intima media thickness (cIMT) measurement. Patients were classified according to percentile reference values of these parameters in healthy children...
May 17, 2018: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/29770213/variable-phenotypic-presentations-of-renal-involvement-in-fabry-disease-a-case-series
#8
Sarah McCloskey, Paul Brennan, John A Sayer
Fabry disease is an X-linked genetic deficiency in the alpha-galactosidase enzyme resulting in intracellular accumulation of glycosphingolipids and multisystem organ dysfunction. Typically 50% of males and 20% of affected females have renal involvement, ranging from proteinuria or reduced renal function, renal parapelvic cysts and progressive renal disease ultimately requiring transplantation or dialysis. The phenotypic presentation of Fabry disease is incredibly varied and will even vary between family members with the same confirmed genetic mutation...
2018: F1000Research
https://www.readbyqxmd.com/read/29768287/ultrasound-computed-tomography-and-magnetic-resonance-imaging-in-a-patient-with-medullary-cystic-kidney-disease
#9
Gilbert Whang, Hisham Tchelepi
Among the renal cystic diseases that result in end-stage renal disease, an important hereditary cause is medullary cystic kidney disease, which affects adults in an autosomal dominant pattern. It is characterized by progressive renal failure, tubulointerstitial fibrosis, and formation of small cysts in the renal medulla and corticomedullary junction. While the appearance of medullary/corticomedullary cysts may not be pathognomonic for medullary cystic kidney disease, encountering a patient with renal failure and medullary/corticomedullary cysts should prompt further investigation, given the implication of having the disease...
May 15, 2018: Ultrasound Quarterly
https://www.readbyqxmd.com/read/29766469/proteinuric-glomerulopathy-in-an-adolescent-with-a-distal-partial-trisomy-chromosome-1
#10
Takaya Sasaki, Masahiro Okabe, Takeshi Tosaki, Yu Honda, Masahiro Ishikawa, Nobuo Tsuboi, Takashi Yokoo
We report a case of distal partial trisomy 1 from q32.1 to 41 that have exhibited proteinuric glomerulopathy. The patient was a 17-year-old adolescent with clinical features of low birth weight, mild mental retardation and mild deafness, from the birth. He exhibited non-nephrotic range proteinuria with the mild obesity since the age of sixteen. Image studies did not reveal morphological abnormalities of the kidneys. Renal biopsy findings showed no definitive evidence of primary glomerular diseases, and were characterized by a very low glomerular density, glomerulomegaly and focal effacement of podocyte foot processes...
May 16, 2018: CEN Case Reports
https://www.readbyqxmd.com/read/29764427/col4a5-and-lama5-variants-co-inherited-in-familial-hematuria-digenic-inheritance-or-genetic-modifier-effect
#11
Konstantinos Voskarides, Gregory Papagregoriou, Despina Hadjipanagi, Ioanelli Petrou, Isavella Savva, Avraam Elia, Yiannis Athanasiou, Androulla Pastelli, Maria Kkolou, Michalis Hadjigavriel, Christoforos Stavrou, Alkis Pierides, Constantinos Deltas
BACKGROUND: About 40-50% of patients with familial microscopic hematuria (FMH) caused by thin basement membrane nephropathy (TBMN) inherit heterozygous mutations in collagen IV genes (COL4A3, COL4A4). On long follow-up, the full phenotypic spectrum of these patients varies a lot, ranging from isolated MH or MH plus low-grade proteinuria to chronic renal failure of variable degree, including end-stage renal disease (ESRD). METHODS: Here, we performed Whole Exome Sequencing (WES) in patients of six families, presenting with autosomal dominant FMH, with or without progression to proteinuria and loss of renal function, all previously found negative for severe collagen IV mutations...
May 16, 2018: BMC Nephrology
https://www.readbyqxmd.com/read/29763670/goodpasture-s-autoimmune-disease-a-collagen-iv-disorder
#12
REVIEW
Vadim Pedchenko, A Richard Kitching, Billy G Hudson
Goodpasture's (GP) disease is an autoimmune disorder characterized by the deposition of pathogenic autoantibodies in basement membranes of kidney and lung eliciting rapidly progressive glomerulonephritis and pulmonary hemorrhage. The principal autoantigen is the α345 network of collagen IV, which expression is restricted to target tissues. Recent discoveries include a key role of chloride and bromide for network assembly, a novel posttranslational modification of the antigen, a sulfilimine bond that crosslinks the antigen, and the mechanistic role of HLA in genetic susceptibility and resistance to GP disease...
May 12, 2018: Matrix Biology: Journal of the International Society for Matrix Biology
https://www.readbyqxmd.com/read/29756603/solid-lipid-nanoparticles-release-dna-upon-endosomal-acidification-in-human-embryonic-kidney-cells
#13
Allan Radaic, Marcelo B de Jesus
Nanotechnology can produce materials with unique features compared to the bulk counterparts, which can be useful for medical applications (i.e., nanomedicine). Among the therapeutic agents used in nanomedicine, small molecules or biomacromolecules, such as proteins or genetic materials, can be designed for disease diagnostics and treatment. To transport these biomacromolecules to the target cells, nanomedicine requires nanocarriers. Solid lipid nanoparticles (SLNs) are one of the promising nanocarriers available, because they can be made of biocompatible materials and present high stability (over one year)...
May 14, 2018: Nanotechnology
https://www.readbyqxmd.com/read/29752403/cryo-em-structure-of-the-cytoplasmic-domain-of-murine-transient-receptor-potential-cation-channel-subfamily-c-member-6-trpc6
#14
Caleigh M Azumaya, Francisco Sierra-Valdez, Julio F Cordero-Morales, Terunaga Nakagawa
The kidney maintains the internal milieu by regulating the retention and excretion of proteins, ions, and small molecules. The glomerular podocyte forms the slit diaphragm of the ultrafiltration filter, whose damage leads to progressive kidney failure and focal segmental glomerulosclerosis (FSGS). The canonical transient receptor potential 6 (TRPC6) ion channel is expressed in the podocyte and mutations in its cytoplasmic domain cause FSGS in humans. In vitro evaluation of disease-causing mutations in TRPC6 has revealed that these genetic alterations result in abnormal ion channel gating...
May 11, 2018: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29752375/functional-invalidation-of-putative-sudden-infant-death-syndrome-associated-variants-in-the-kcnh2-encoded-kv11-1-channel
#15
Jennifer L Smith, David J Tester, Allison R Hall, Don E Burgess, Chun-Chun Hsu, Samy Claude Elayi, Corey L Anderson, Craig T January, Jonathan Z Luo, Dustin N Hartzel, Uyenlinh L Mirshahi, Michael F Murray, Tooraj Mirshahi, Michael J Ackerman, Brian P Delisle
BACKGROUND: Heterologous functional validation studies of putative long-QT syndrome subtype 2-associated variants clarify their pathological potential and identify disease mechanism(s) for most variants studied. The purpose of this study is to clarify the pathological potential for rare nonsynonymous KCNH2 variants seemingly associated with sudden infant death syndrome. METHODS: Genetic testing of 292 sudden infant death syndrome cases identified 9 KCNH2 variants: E90K, R181Q, A190T, G294V, R791W, P967L, R1005W, R1047L, and Q1068R...
May 2018: Circulation. Arrhythmia and Electrophysiology
https://www.readbyqxmd.com/read/29744472/does-quality-of-drinking-water-matter-in-kidney-stone-disease-a-study-in-west-bengal-india
#16
Pubali Mitra, Dilip Kumar Pal, Madhusudan Das
Purpose: The combined interaction of epidemiology, environmental exposure, dietary habits, and genetic factors causes kidney stone disease (KSD), a common public health problem worldwide. Because a high water intake (>3 L daily) is widely recommended by physicians to prevent KSD, the present study evaluated whether the quantity of water that people consume daily is associated with KSD and whether the quality of drinking water has any effect on disease prevalence. Materials and Methods: Information regarding residential address, daily volume of water consumption, and source of drinking water was collected from 1,266 patients with kidney stones in West Bengal, India...
May 2018: Investigative and Clinical Urology
https://www.readbyqxmd.com/read/29743665/isozyme-specific-comprehensive-characterization-of-transglutaminase-crosslinked-substrates-in-kidney-fibrosis
#17
Hideki Tatsukawa, Risa Otsu, Yuji Tani, Ryosuke Wakita, Kiyotaka Hitomi
Chronic kidney disease is characterized by prolonged decline in renal function, excessive accumulation of ECM, and progressive tissue fibrosis. Transglutaminase (TG) is a crosslinking enzyme that catalyzes the formation of covalent bonds between glutamine and lysine residues, and is involved in the induction of renal fibrosis via the stabilization of ECM and the activation of TGF-β1. Despite the accumulating evidences indicating that TG2 is a key enzyme in fibrosis, genetic knockout of TG2 reduced by only 50% the elevated protein crosslinking and fibrous protein in renal fibrosis model, whereas treatment with TG inhibitor almost completely reduced these levels...
May 9, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29737248/targeted-therapies-for-autosomal-dominant-polycystic-kidney-disease
#18
Cherie Stayner, Darby G Brooke, Michael Bates, Michael R Eccles
BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is the most common life-threatening genetic disease in humans, affecting approximately 1 in 500 people. ADPKD is characterized by cyst growth in the kidney leading to progressive parenchymal damage and is the underlying pathology in approximately 10% of patients requiring hemodialysis or transplantation for end-stage kidney disease. The two proteins that are mutated in ADPKD, polycystin-1 and polycystin-2, form a complex located on the primary cilium and the plasma membrane to facilitate calcium ion release in the cell...
May 7, 2018: Current Medicinal Chemistry
https://www.readbyqxmd.com/read/29731246/gdf11-induces-kidney-fibrosis-renal-cell-epithelial-to-mesenchymal-transition-and-kidney-dysfunction-and-failure
#19
Marianne Pons, Leonidas G Koniaris, Sharon M Moe, Juan C Gutierrez, Aurora Esquela-Kerscher, Teresa A Zimmers
BACKGROUND: GDF11 modulates embryonic patterning and kidney organogenesis. Herein, we sought to define GDF11 function in the adult kidney and in renal diseases. METHODS: In vitro renal cell lines, genetic, and murine in vivo renal injury models were examined. RESULTS: Among tissues tested, Gdf11 was highest in normal adult mouse kidney. Expression was increased acutely after 5/6 nephrectomy, ischemia-reperfusion injury, kanamycin toxicity, or unilateral ureteric obstruction...
May 3, 2018: Surgery
https://www.readbyqxmd.com/read/29722904/renal-complications-of-lipodystrophy-a-closer-look-at-the-natural-history-of-kidney-disease
#20
Baris Akinci, Sadiye Mehtat Unlu, Ali Celik, Ilgin Yildirim Simsir, Sait Sen, Banu Nur, Fatma Ela Keskin, Basak Ozgen Saydam, Nilufer Ozdemir Kutbay, Banu Sarer Yurekli, Bekir Ugur Ergur, Melda Sonmez, Tahir Atik, Atakan Arslan, Tevfik Demir, Canan Altay, Ulku Aybuke Tunc, Tugba Arkan, Ramazan Gen, Erdal Eren, Gulcin Akinci, Aslihan Arasli Yilmaz, Habip Bilen, Samim Ozen, Aygul Celtik, Senay Savas Erdeve, Semra Cetinkaya, Huseyin Onay, Sulen Sarioglu, Elif Arioglu Oral
OBJECTIVES: Lipodystrophy syndromes are a group of heterogeneous disorders characterized by adipose tissue loss. Proteinuria is a remarkable finding in previous reports. STUDY DESIGN: In this multi-center study, prospective follow-up data were collected from 103 subjects with non-HIV associated lipodystrophy registered in the Turkish Lipodystrophy Study Group database to study renal complications in treatment naïve patients with lipodystrophy. METHODS: Main outcome measures included ascertainment of chronic kidney disease (CKD) by studying the level of proteinuria and the estimated glomerular filtration rate (eGFR)...
May 3, 2018: Clinical Endocrinology
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