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Littérature scientifique sur le sujet « Glomerulocystic »

Auteur : Grafiati

Publié le 4 juin 2021

Mis à jour le 18 février 2022

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Articles de revues sur le sujet "Glomerulocystic"

Sahay, M., et S. Gowrishankar. « Glomerulocystic disease ». Clinical Kidney Journal 3, n^o 4 (13 avril 2010) : 349–50. http://dx.doi.org/10.1093/ndtplus/sfq048.

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Oh, Yukinori, Kaoru Onoyama, Kazuo Kobayashi, Fumio Nanishi, Wataru Mitsuoka, Nobuaki Ohchi, Hiroshi Tsuruda et Masatoshi Fujishima. « Glomerulocystic Kidneys ». Nephron 43, n^o 4 (1986) : 299–302. http://dx.doi.org/10.1159/000183858.

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Andreeva, E. F., et N. D. Savenkova. « Clinical and genetic features of glomerulocystic kidney in childhood ». Nephrology (Saint-Petersburg) 24, n^o 3 (23 avril 2020) : 54–63. http://dx.doi.org/10.36485/1561-6274-2020-24-3-54-63.

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The review provides historical information on the study of renal cystosis that occurs with glomerular cysts, discusses terminology issues and classification of diseases that occur with glomerulocystic kidney. The course features, diagnostic methods, treatment, and prognosis of renal glomerulocystosis in children, renal and extrarenal manifestations of two subtypes of hereditary glomerulocystic kidney disease: autosomal dominant glomerulocystic kidney disease associated with mutations of uromodulin (OMIM 609886) and familial hypoplastic glomerulocystic kidney disease associated with mutations of the HNF-1β (TCF2) gene (OMIM 137920). Diagnostic tetrad of familial hypoplastic glomerulocystic kidney disease, features of course and prognosis of HNF-1β-associated kidney disease with very early onset (VEO), MODY5 diabetes caused by HNF-1β mutation and 17q12 microdeletion syndrome in children were detected. According to the results of ultrasound examination (US), the fetus and newborn reveal hyperechogenicity of the kidney parenchyma, the volume of which is increased or corresponds to normal values. Renal cysts in glomerulocystic kidney are small, located in the cortical layer or subcapsularly, single or multiple, rarely diagnosed in the neonatal period. In young children, US shows a picture of increasing hyperechogenicity of the parenchyma with visualization of renal cysts in the cortical layer or subcapsularly, a decrease in the volume or asymmetry in the size of the kidneys. Urinary syndrome in glomerulocystic kidney in childhood is characterized by hematuria, microproteinuria, magniuria and uraturia in combination with hypostenuria and polyuria. Molecular genetic research reveals the mutation of genes responsible for the development of inherited diseases that occur with glomerulocystic kidney, and largely determines the prognosis and management tactics of the patient. A systematic approach is needed in the diagnosis and treatment of glomerulocystic kidney in children in order to slow the progression of chronic kidney disease and extrarenal manifestations, and to maintain continuity of observation of patients in pediatric and adult nephrological structures.

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Takeda, A., Hiroaki Ohgushi, Yoichi Mizusawa, Akira Shimizu et Nobuaki Yamanaka. « Dysplastic glomerulocystic kidney ». Clinical and Experimental Nephrology 3, n^o 1 (1 mars 1999) : 51–53. http://dx.doi.org/10.1007/s101570050009.

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Bissler, John J., Brian J. Siroky et Hong Yin. « Glomerulocystic kidney disease ». Pediatric Nephrology 25, n^o 10 (21 janvier 2010) : 2049–59. http://dx.doi.org/10.1007/s00467-009-1416-2.

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Carstens, Per H. B., et Ramzi N. Nassar. « Glomerulocystic Disease and Lupus Glomerulonephropathy ». Ultrastructural Pathology 18, n^o 1-2 (janvier 1994) : 137–40. http://dx.doi.org/10.3109/01913129409016284.

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Cachero, S., P. Montgomery, F. G. Seidel, J. E. Springate, L. Feld, L. P. Kuhn et J. Fisher. « Glomerulocystic kidney disease : Case report ». Pediatric Radiology 20, n^o 6 (juillet 1990) : 491–93. http://dx.doi.org/10.1007/bf02075221.

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Carson, Richard W., Deepak Bedi, Tito Cavallo et Thomas D. DuBose. « Familial Adult Glomerulocystic Kidney Disease ». American Journal of Kidney Diseases 9, n^o 2 (février 1987) : 154–65. http://dx.doi.org/10.1016/s0272-6386(87)80093-8.

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Fredericks, B. J., M. de Campo, C. W. Chow et H. R. Powell. « Glomerulocystic renal disease : ultrasound appearances ». Pediatric Radiology 19, n^o 3 (mars 1989) : 184–86. http://dx.doi.org/10.1007/bf02388653.

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Oliva, M. R., J. Hsing, F. J. Rybicki, F. Fennessy, K. J. Mortelé et P. R. Ros. « Glomerulocystic kidney disease : MRI findings ». Abdominal Imaging 38, n^o 6 (12 septembre 2009) : 1465. http://dx.doi.org/10.1007/s00261-009-9574-z.

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Thèses sur le sujet "Glomerulocystic"

Milo, Rasouly Hila. « Discovery and analysis of genes important in kidney development and disease ». Thesis, 2015. https://hdl.handle.net/2144/13984.

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Abnormal kidney development is a relatively prevalent health issue; however, the genetic basis is mostly unknown. The aim of this thesis is to identify genes important in kidney development and disease and to study their molecular functions. We hypothesized that human diseases associated with kidney anomalies can uncover novel genes important in kidney development and disease. The thesis is divided into three independent projects that examined three genes (i.e. Zeb2, Ilk, Robo2) at three stages of mouse kidney development: nephrogenesis, glomerular podocyte, and early ureteric bud outgrowth. In the first project, we identified Zeb2, a gene encoding the zinc finger E-box binding homeobox 2 transcription factor that is mutated in the Mowat Wilson syndrome, as a novel gene important in nephrogenesis. Zeb2 conditional knockout mice (Zeb2 cKO) develop glomerulocystic kidney disease with many atubular glomeruli and decreased expression of proximal tubular markers before cyst formation. These data suggest that abnormal nephrogenesis leads to the congenital atubular glomeruli and primary glomerular cysts in the Zeb2 cKO mice. This study implies that ZEB2 is a novel candidate gene for glomerular cystic disease in patients. Additionally we found that Pkd1, the gene mutated in autosomal dominant polycystic kidney disease, is upregulated in non-cystic glomeruli and knockout of one copy of the Pkd1 gene exacerbates the cystic phenotype of the Zeb2 cKO mice. These findings suggest a genetic interaction between Zeb2 and Pkd1 and that Zeb2 might be a novel PKD1 modifier. In the second project, we studied the roles of integrin-linked kinase (ILK) and roundabout 2 (ROBO2) in glomerular podocytes. We found that ILK and ROBO2 form a protein complex, and that loss of Robo2 improves survival and alleviates the podocyte and basement membrane abnormalities seen in Ilk knockout mice. In the third project, using microarray gene expression analysis, we found lower gene expression levels of extracellular matrix proteins during early ureteric bud outgrowth in the Robo2 homozygous knockout embryos as compared to wild type controls. These findings suggest that ROBO2 may regulate extracellular matrix components in the kidney. In conclusion, we found a new role for Zeb2 in nephrogenesis, and identified a novel function of Robo2 in regulating extracellular matrix gene expression in podocytes and during early kidney development.
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Chapitres de livres sur le sujet "Glomerulocystic"

Ali, Uma, et Alpana Ohri. « Glomerulocystic Kidney Disease ». Dans Principles and Practice of Pediatric Nephrology, 465. Jaypee Brothers Medical Publishers (P) Ltd., 2013. http://dx.doi.org/10.5005/jp/books/12074_39.

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« Glomerulocystic Kidney Disease, Hypoplastic, Familial (GCKD, 17 cen-q21.3) ». Dans Encyclopedia of Genetics, Genomics, Proteomics and Informatics, 802. Dordrecht : Springer Netherlands, 2008. http://dx.doi.org/10.1007/978-1-4020-6754-9_6927.

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