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Letteratura scientifica selezionata sul tema "Hereditary nephropathies"

Autore: Grafiati

Pubblicato: 16 novembre 2024

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Articoli di riviste sul tema "Hereditary nephropathies"

1

M. O. Ryznychuk e V. P. Pishak. "Clinical characteristic and genetic polymorphism of hereditary kidney disease. Communication 1". Bukovinian Medical Herald 17, n. 1 (65) (2 febbraio 2013): 169–73. http://dx.doi.org/10.24061/2413-0737.xvii.1.65.2013.40.

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WASIELEWSKA, MAŁGORZATA, IWONA SZATKOWSKA, EWA CZERNIAWSKA–PIĄTKOWSKA e DANIEL ZABORSKI. "Molecular background of hereditary nephropathies in spaniel dogs". Medycyna Weterynaryjna 75, n. 12 (2019): 6330–2019. http://dx.doi.org/10.21521/mw.6330.

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The molecular background of hereditary nephropathies in English Cocker Spaniels and Springer Spaniels remained unclear until the beginning of the 21st century. It was only the discovery of an association between these diseases and Alport syndrome in humans that made it possible to identify the genes potentially responsible for nephropathies in dogs. Eventually, two mutations were identified in the COL4A4 gene coding for the alpha chains of collagen IV, the main component of the glomerular basement membrane (GBM). This review presents the molecular mechanism resulting from the aforementioned mutations, the signs of disease, functions of the GBM, and breeding aspects.

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3

Arant, Billy S. "Prevention of hereditary nephropathies by antenatal interventions". Pediatric Nephrology 1, n. 3 (settembre 1987): 553–60. http://dx.doi.org/10.1007/bf00849269.

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4

Dufier, J. L., D. Orssaud, P. Dhermy, M. C. Gubler, M. F. Gagnadoux e M. Broyer. "Ocular changes in some progressive hereditary nephropathies". Pediatric Nephrology 1, n. 3 (1987): 525–30. http://dx.doi.org/10.1007/bf00849264.

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5

Fuentes Milián, Yangel, Danyer Daniel Tamayo Ribeaux, Anabel Cepero Rodríguez e Bárbara Martínez Pérez. "Screening and diagnostic algorithm of hereditary metabolic nephropathies in newborns". Multidisciplinar (Montevideo) 2 (1 gennaio 2024): 67. http://dx.doi.org/10.62486/agmu202467.

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Introduction: inborn errors of metabolism expressed as hereditary nephropathies, entail various biochemical abnormalities that facilitate their screening and diagnosis in the newborn.Objective: to offer a useful, ideal, simple and reliable screening alternative as a tool for the diagnosis of hereditary metabolic nephropathies in newborns.Methods: an observational and cross-sectional study was carried out during the period September 2021-February 2023, at the Abel Santamaría Cuadrado General Teaching Hospital, Pinar del Río province, Cuba. The universe consisted of 90 patients and a representative sample of 63 was taken. The variables were studied: glycemia, lactinemia, ammonemia, arterial hemogasometry, urinalysis, hyperazotemia, heel test and perinatal risk factors associated with hyperazotemia. Empirical, theoretical and statistical methods were used. Medical ethics were respected.Results: the correlation predominated hypoglycemia, hyperlactinemia and hyperammonemia with an incidence of 55.56% and patients with metabolic acidosis in 49.21%. A greater frequency was observed in the correlation of patients with alterations in the urinary supernatant and hyperazoemia, for 33.33% of the sample. The number of patients with negative neonatal screening was higher, at 87%. Low birth weight and prematurity were the perinatal risk factors most associated with hyperazoemia in the patients treated, 36.51% and 33.33% respectively.Conclusions: the results obtained show high sensitivity and low specificity, but they still give us a reliable parameter and a tool to help diagnose hereditary metabolic nephropathies

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Zerres, Klaus, e Sabine Rudnik-Schöneborn. "Current Status of DNA Diagnosis for Hereditary Nephropathies". Kidney and Blood Pressure Research 19, n. 3-4 (1996): 209–14. http://dx.doi.org/10.1159/000174076.

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Niaudet, Patrick. "Living donor kidney transplantation in patients with hereditary nephropathies". Nature Reviews Nephrology 6, n. 12 (28 settembre 2010): 736–43. http://dx.doi.org/10.1038/nrneph.2010.122.

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Picut, C. A., e R. M. Lewis. "Comparative pathology of canine hereditary nephropathies: An interpretive review". Veterinary Research Communications 11, n. 6 (1987): 561–81. http://dx.doi.org/10.1007/bf00396371.

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9

Yanus, G. A., A. G. Iyevleva, E. N. Suspitsin, A. V. Tumakova, E. V. Belogubova, S. N. Aleksakhina, A. V. Togo e E. N. Imyanitov. "Hereditary predisposition to kidney cancer: cancer syndromes, multisystemic disorders, and nephropathies". Sechenov Medical Journal 14, n. 2 (14 agosto 2023): 5–20. http://dx.doi.org/10.47093/2218-7332.2023.14.2.5-20.

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Kidney cancer (KC) is a common disease characterized by extreme heterogeneity. There are nine known monogenic diseases associated with a significantly elevated KC risk: von Hippel-Lindau disease, MET-associated papillary renal cancer, familial multiple leiomyomatosis and renal cell cancer, SDHx-associated familial pheochromocytoma/ paraganglioma, Birt-Hogg-Dube syndrome, tuberous sclerosis, Cowden syndrome, BAP1- and MITF-associated melanoma-KC predisposition. These syndromes differ in the degree of cancer risk, the quantity, growth and progression rates of associated precancerous lesions, the morphology, and clinical presentations of malignancy itself, and in the response to therapy. Identification of causative germline lesion allows planning the surveillance of a mutation carrier, choosing the right time and extent of surgery, and optimizing treatment regimen. Hereditary KC research often brings forward novel approaches to the management of sporadic “phenocopies” of hereditary syndromes, i.e. sporadic cancers with somatic mutations in similar genes. The main directions for further study of genetic factors of KC are to find novel KC genes, to study risk modifiers in carriers of highly penetrant mutations, to clarify the involvement of hereditary nephropathies in the occurrence of renal cancers.

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Minkus, G., W. Breuer, R. Wanke, C. Reusch, G. Leuterer, G. Brem e W. Hermanns. "Familial Nephropathy in Bernese Mountain Dogs". Veterinary Pathology 31, n. 4 (luglio 1994): 421–28. http://dx.doi.org/10.1177/030098589403100403.

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Between January 1988 and March 1992 nephropathies were frequently diagnosed in Bernese Mountain Dogs. During this period, 20 animals (16 females, four males), ages 2–5 years (average age at time of diagnosis = 3.3 years) presented with clinically renal insufficiency. Morphologic diagnosis of the renal lesions was identical in all cases, i.e., membranoproliferative glomerulonephritis (MPGN) with concomitant interstitial nephritis. Deposits of immunoglobulin-M (IgM) and of the third complement component were regularly demonstrated immunohistochemically in the glomeruli; deposits of immunoglobulin-A (IgA) and immunoglobulin-G (IgG) were found only in isolated cases. Reduplication of glomerular basement membranes, mesangial interposition, and subendothelial deposits of the immunocomplex type were also detected by electron microscopy. A pedigree analysis indicated that the MPGN in these 20 Bernese Mountain Dogs of approximately the same age was of hereditary genesis. Thus, MPGN should be allocated to the group of familial nephropathies. Serologically, high IgG titers against Borrelia burgdorferi were found in 17 dogs. These findings are discussed in relation to familial nephropathies in humans.

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Più fonti

Tesi sul tema "Hereditary nephropathies"

1

Riedhammer, Korbinian Maria [Verfasser], Julia [Akademischer Betreuer] Höfele, Clemens [Gutachter] Cohen, Lutz [Gutachter] Renders e Julia [Gutachter] Höfele. "Exome sequencing in hereditary nephropathies / Korbinian Maria Riedhammer ; Gutachter: Clemens Cohen, Lutz Renders, Julia Höfele ; Betreuer: Julia Höfele". München : Universitätsbibliothek der TU München, 2021. http://d-nb.info/1232913820/34.

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Mei-Chih, Pan. "L'ostéo-onychodysplasie héréditaire : deux observations familiales et revue de la littérature". Bordeaux 2, 1994. http://www.theses.fr/1994BOR2M153.

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Larrue, Romain. "Déterminants moléculaires et cellulaires des maladies rénales chroniques et de leurs complications". Electronic Thesis or Diss., Université de Lille (2022-....), 2024. http://www.theses.fr/2024ULILS026.

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La maladie rénale chronique est définie indépendamment de sa cause, par la présence,pendant plus de 3 mois, de marqueurs d’atteinte rénale ou d’une baisse du débit de filtration glomérulaire estimé (DFG estimé) au-dessous de 60 ml/min/1,73 m². Elle est associée à un risque accru de progression vers l’insuffisance rénale chronique terminale et à une diminution de la survie des patients. Les options thérapeutiques restent limitées et reposent essentiellement sur la dialyse et la transplantation rénale.Le projet de thèse proposé vise à identifier de nouveaux déterminants moléculaires et cellulaires associés à la maladie rénale chronique et ses complications en s’appuyant sur différentes entités cliniques. D’une part, la recherche de facteurs génétiques impliqués dans la pathogenèse de certaines néphropathies héréditaires telles que la néphronophtise ou le syndrome d’Alport a été appréhendée par des techniques analytiques innovantes telles que le séquençage à haut débit. D’autre part, l’implication d’un microARN, miR-21, a été évalué dans un modèle murin de néphropathie secondaire où les lésions rénales sont induites par l’exposition à un agent anticancéreux, le cisplatine.Nos résultats ont permis l’identification de nouveaux variants génétiques jouant un rôle causal dans le syndrome d’Alport et la néphronophtise à l’aide d’une stratégie analytique permettant le séquençage complet du génome. Par ailleurs, nos données suggèrent également que miR-21 aurait un rôle néphroprotecteur et que sa modulation pharmacologique permettrait d’éviter la survenue d’une insuffisance rénale chronique chez le patient recevant des chimiothérapies à base de dérivés du platine.Au total, les résultats obtenus dans ce travail devraient permettre de mieux comprendre la physiopathologie de la maladie rénale chronique et pourrait aboutir à plus ou moins long terme à de nouvelles options thérapeutiques
Chronic Kidney Disease (CKD) is defined, regardless of its primary cause, by the presence, for more than 3 months, of markers of kidney damage or a decrease in estimated glomerular filtration rate below 60 ml/min/1.73 m². CKD is associated with an increased risk of progression to end-stage renal disease as well as decreased patient survival. Therapeutic options remain limited and rely primarily on dialysis and renal transplantation.This thesis project aims at identifying novel molecular and cellular determinants associated with CKD and its complications based on different clinical entities. On the one hand, the search for genetic factors involved in the pathogenesis of certain hereditary nephropathies such as nephronophthisis or Alport syndrome has been addressed using innovative analytical techniques such as high-throughput sequencing. On the other hand, the involvement of a particular microRNA, miR-21, was evaluated in a mouse model of secondary nephropathy where kidney damage is induced by exposure to an anticancer agent, cisplatin. Our results allowed the identification of new genetic variants playing a causal role in Alport syndrome and nephronophthisis using an analytical strategy enabling complete genome sequencing. Furthermore, our data also suggest that miR-21 has a nephroprotective role and that its pharmacological modulation may prevent the occurrence of chronic renal failure in patients receiving chemotherapy including platinum derivatives. Overall, the results obtained in this work provide a better understanding of the pathophysiology of chronic kidney disease and could lead to new therapeutic options in the more or less long term

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Libri sul tema "Hereditary nephropathies"

1

Kammel, Rainer. Hereditäre Nephropathie (ALPORT-Syndrom): Elektronemikroskopisch-morphometrische Untersucungen an der glomerulären Basalmembran. 1988.

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2

Sessa, Adalberto, Mietta Meroni e Graziana Battini. Hereditary Nephritis: International Meeting on Recent Advances in Hereditary Nephritis, July 1, 1989 (Contributions to Nephrology). S. Karger Publishers (USA), 1991.

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Capitoli di libri sul tema "Hereditary nephropathies"

1

KAPLAN, BERNARD S. "Hereditary Nephropathies". In Pediatric Nephrology and Urology, 156–62. Elsevier, 2004. http://dx.doi.org/10.1016/b978-0-323-01841-8.50026-3.

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2

"Hereditary Nephropathies". In Non-Neoplastic Kidney Diseases, 75–104. American Registry of PathologyWashington, DC, 2005. http://dx.doi.org/10.55418/1881041964-04.

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Srivastava, RN, e Arvind Bagga. "Hereditary Nephropathies". In Pediatric Nephrology, 140. Jaypee Brothers Medical Publishers (P) Ltd., 2005. http://dx.doi.org/10.5005/jp/books/10603_10.

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Srivastava, RN, e Arvind Bagga. "Hereditary Nephropathies". In Pediatric Nephrology, 170. Jaypee Brothers Medical Publishers (P) Ltd., 2011. http://dx.doi.org/10.5005/jp/books/11308_9.

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Tryggvason, Karl. "Primary Hereditary Nephropathies". In The Genetics of Renal Disease, 167–82. Oxford University PressNew York, NY, 2004. http://dx.doi.org/10.1093/oso/9780192631466.003.0007.

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Abstract Congenital nephrotic syndrome (CNS) is defined as proteinuria leading to clinical symptoms such as edema soon after birth, especially at the age limit of 3 months (Rapola et al. 1992; Mauch et al. 1994). Most CNS have a genetic basis and poor outcome. Recent extensive progress in molecular genetics and biology has given new insight into the molecular basis of these diseases.

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Anupam, Sachdeva. "Chapter-172 Hereditary Nephropathies". In Practical Physiology Book, 1411–16. Jaypee Brothers Medical Publishers (P) Ltd., 2012. http://dx.doi.org/10.5005/jp/books/11529_172.

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Anupam, Sachdeva. "Chapter-172 Hereditary Nephropathies". In Advances in Pediatrics (Vol-1 &amp Vol-2), 1411–16. Anupam Sachdeva, AK Dutta, 2012. http://dx.doi.org/10.5005/jp/books/11708_172.

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Guay-Woodford, Lisa M. "Hereditary Nephropathies and Developmental Abnormalities of the Urinary Tract". In Goldman's Cecil Medicine, 800–805. Elsevier, 2012. http://dx.doi.org/10.1016/b978-1-4377-1604-7.00130-5.

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9

"Hereditäre Nephropathien". In Innere Medizin 2023, 629–34. De Gruyter, 2022. http://dx.doi.org/10.1515/9783111078304-113.

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Gross, O., M. Weber, F. Hildebrandt e K. Zerres. "Hereditäre Nephropathien". In Rationelle Diagnostik und Therapie in der Inneren Medizin, G7.1—G7.7. Elsevier, 2007. http://dx.doi.org/10.1016/b978-3-437-22136-1.50018-8.

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