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Thematische Bibliographien / Hereditary nephropathies

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Zeitschriftenartikel

Auswahl der wissenschaftlichen Literatur zum Thema „Hereditary nephropathies“

Autor: Grafiati

Veröffentlicht am 16. November 2024

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Zeitschriftenartikel zum Thema "Hereditary nephropathies"

1

M. O. Ryznychuk and V. P. Pishak. "Clinical characteristic and genetic polymorphism of hereditary kidney disease. Communication 1." Bukovinian Medical Herald 17, no. 1 (65) (2013): 169–73. http://dx.doi.org/10.24061/2413-0737.xvii.1.65.2013.40.

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2

WASIELEWSKA, MAŁGORZATA, IWONA SZATKOWSKA, EWA CZERNIAWSKA–PIĄTKOWSKA, and DANIEL ZABORSKI. "Molecular background of hereditary nephropathies in spaniel dogs." Medycyna Weterynaryjna 75, no. 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, no. 3 (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, and M. Broyer. "Ocular changes in some progressive hereditary nephropathies." Pediatric Nephrology 1, no. 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, and Bárbara Martínez Pérez. "Screening and diagnostic algorithm of hereditary metabolic nephropathies in newborns." Multidisciplinar (Montevideo) 2 (January 1, 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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6

Zerres, Klaus, and Sabine Rudnik-Schöneborn. "Current Status of DNA Diagnosis for Hereditary Nephropathies." Kidney and Blood Pressure Research 19, no. 3-4 (1996): 209–14. http://dx.doi.org/10.1159/000174076.

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7

Niaudet, Patrick. "Living donor kidney transplantation in patients with hereditary nephropathies." Nature Reviews Nephrology 6, no. 12 (2010): 736–43. http://dx.doi.org/10.1038/nrneph.2010.122.

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8

Picut, C. A., and R. M. Lewis. "Comparative pathology of canine hereditary nephropathies: An interpretive review." Veterinary Research Communications 11, no. 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, et al. "Hereditary predisposition to kidney cancer: cancer syndromes, multisystemic disorders, and nephropathies." Sechenov Medical Journal 14, no. 2 (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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10

Minkus, G., W. Breuer, R. Wanke, et al. "Familial Nephropathy in Bernese Mountain Dogs." Veterinary Pathology 31, no. 4 (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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