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Relevant bibliographies by topics / Alport`s syndrome

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Academic literature on the topic 'Alport`s syndrome'

Author: Grafiati

Published: 4 June 2021

Last updated: 14 February 2022

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Journal articles on the topic "Alport`s syndrome"

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GRONDALSKI, STEVEN JOSEPH, and G. RICHARD BENNETT. "Alport??s Syndrome: Review and Case Report." Optometry and Vision Science 66, no. 6 (June 1989): 396–98. http://dx.doi.org/10.1097/00006324-198906000-00010.

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Gettelfinger, John, and John Dahl. "Syndromic Hearing Loss: A Brief Review of Common Presentations and Genetics." Journal of Pediatric Genetics 07, no. 01 (January 4, 2018): 001–8. http://dx.doi.org/10.1055/s-0037-1617454.

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AbstractCongenital hearing loss is one of the most common birth defects worldwide, with around 1 in 500 people experiencing some form of severe hearing loss. While over 400 different syndromes involving hearing loss have been described, it is important to be familiar with a wide range of syndromes involving hearing loss so an early diagnosis can be made and early intervention can be pursued to maximize functional hearing and speech-language development in the setting of verbal communication. This review aims to describe the presentation and genetics for some of the most frequently occurring syndromes involving hearing loss, including neurofibromatosis type 2, branchio-oto-renal syndrome, Treacher Collins syndrome, Stickler syndrome, Waardenburg syndrome, Pendred syndrome, Jervell and Lange-Nielsen syndrome, Usher syndromes, Refsum disease, Alport syndrome, MELAS, and MERRF.

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Vedantham, Vasumathy, Jyothsna Rajagopal, and PraveenKrishna Ratnagiri. "Bilateral simultaneous anterior and posterior lenticonus in Alport′s syndrome." Indian Journal of Ophthalmology 53, no. 3 (2005): 212. http://dx.doi.org/10.4103/0301-4738.16691.

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Rezaie-Jami, Taiebeh, Mohammad Reza Khoshsorour, Mohsen Islami, Behzad Amir-Ansari, Mohammad Reza Ganji, Dariush Daneshvar Farhud, and Behrooz Broumand. "Situs inversus: An Uncommon Extrarenal Association of Alport’s Syndrome." Nephron 74, no. 2 (1996): 426. http://dx.doi.org/10.1159/000189349.

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Pingen, C. H., W. Hecht, M. Reinacher, and L. Brachthäuser. "Rubber jaw in a Weimaraner dog due to juvenile nephropathy." Tierärztliche Praxis Ausgabe K: Kleintiere / Heimtiere 41, no. 03 (2013): 198–202. http://dx.doi.org/10.1055/s-0038-1623700.

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SummaryThe case of a 5-month-old male Weimaraner dog with severe osteodystrophia fibrosa (rubber jaw) and renal insufficiency is presented. Kidneys were smaller than normal with a granular cortical surface and a histopathological end-stage diagnosis consistent with juvenile nephropathy. Analysis of four described genetic mutations associated with Alport syndrome in dogs revealed no evidence for familiar inheritance in this dog.

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Denne, C., H. Hahn, M. Steinborn, S. Hosie, J. C. Lenz, F. Höpner, and S. Burdach. "Ultrasound: A Helpful Diagnostic Tool in Esophageal Leiomyomatosis with Alport Syndrome." Ultraschall in der Medizin - European Journal of Ultrasound 32, no. 03 (July 7, 2010): 311–12. http://dx.doi.org/10.1055/s-0029-1245532.

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Basta-Jovanovic, Gordana, Sanja Radojevic-Skodric, Milena Jovanovic, Ljiljana Bogdanovic, Radovan Bogdanovic, Visnja Lezaic, Vidosava Nesic, and Steven Dikman. "The significance of Goodpasture antigen in hereditary nephritis." Srpski arhiv za celokupno lekarstvo 136, Suppl. 4 (2008): 282–86. http://dx.doi.org/10.2298/sarh08s4282b.

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INTRODUCTION. Two types of hereditary nephritis, nonprogressive and progressive, clinically present as asymptomatic haematuria, sometimes combined with proteinuria. At the onset, in both types, light microscopic changes are minimal, immunofluorescence findings are negative, and diagnosis can be made only upon electron microscopic findings that are considered to be specific. OBJECTIVE. The aim of this study was to determine the significance of Goodpasture antigen detection in diagnosis of progressive and nonprogressive hereditary nephritis in its early phase. METHOD. Analysis of renal biopsy specimens was done in patients with hereditary nephritis that were followed from 1990 to 2005. Progression of renal disease was examined in 14 patients with Alport?s syndrome, 10 patients with thin basement membrane disease, and 6 patients with unclassified hereditary nephritis diagnosed. For all these cases, indirect immunofluorescence study with serum from a patient with high titer of Goodpasture autoantibodies that recognize the antigenic determinants in human glomerular and tubular basement membrane was performed. RESULTS. In 11 out of 14 cases diagnosed as Alport?s syndrome, there was negative staining with Goodpasture serum, and in 3 additional cases with Alport?s syndrome, expression of Goodpasture antigen in glomerular basement membrane and thin basement membrane was highly reduced. In all 10 patients with thin basement membrane disease, immunofluorescence showed intensive, bright linear staining with Goodpasture serum along glomerular and tubular basement membrane. In 2 out of 6 patients with unclassified hereditary nephritis, Goodpasture antigen expression was very strong, in one patient it was very reduced, and in 3 patients it was negative. CONCLUSION. The results of our study show that Goodpasture antigen detection plays a very important role in differential diagnosis of progressive and nonpregressive hereditary nephritis, particularly in early phases of the disease.

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Aksoy, Adnan, Ibrahim Yasar, Murat Aslankurt, Lokman Aslan, and Oguz Oguzhan. "Bilateral anterior lenticonus in a young patient with Alport and #8217;s syndrome." Gaziantep Medical Journal 21, no. 1 (2015): 65. http://dx.doi.org/10.5455/gmj-30-163945.

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Rassoul, Z., A. A. Al-Khader, M. Al-Sulaiman, J. M. Dhar, and P. Coode. "Recurrent Allograft Antiglomerular Basement Membrane Glomerulonephritis in a Patient with Alport’s Syndrome." American Journal of Nephrology 10, no. 1 (1990): 73–76. http://dx.doi.org/10.1159/000168058.

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GIBSON, JANE, RODNEY D. GILBERT, DAVID J. BUNYAN, ELIZABETH M. ANGUS, DARREN J. FOWLER, and SARAH ENNIS. "Exome analysis resolves differential diagnosis of familial kidney disease and uncovers a potential confounding variant." Genetics Research 95, no. 6 (December 2013): 165–73. http://dx.doi.org/10.1017/s0016672313000220.

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SummaryA girl aged 6 presented with haematuria and her sister (aged 5) presented with haematuria and proteinuria. Family history showed multiple individuals suffering from end stage renal failure from the paternal side of the pedigree. Following kidney biopsy in the father and paternal grandmother, the pathological diagnosis was of focal segmental glomerulosclerosis (FSGS). Exome sequencing was undertaken in the proband's sister and grandmother. Genetic variants shared by both affected individuals were interrogated to identify the genetic cause of disease. Candidate variants were then sequenced in all the family members to determine segregation with the disease. A mutation of COL4A5 known to cause Alport syndrome segregated with disease from the paternal side of the pedigree and a variant in NPHS1 was present in both paediatric cases and inherited from their mother. This study highlights the advantages of exome sequencing over single gene testing; disease presentation can be heterogeneous with several genes representing plausible candidates; candidate gene(s) may be unavailable as a diagnostic test; consecutive, single gene testing typically concludes once a single causal mutation is identified. In this family, we were able to confirm a diagnosis of Alport syndrome, which will facilitate testing in other family members.

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Dissertations / Theses on the topic "Alport`s syndrome"

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Martin, Maria. "Die Bedeutung des Kollagenrezeptors α2β1- Integrin bei der Pathogenese und Prävention der Nierenfibrose in hereditären Typ IV- Kollagen- Erkrankungen." Doctoral thesis, 2011. http://hdl.handle.net/11858/00-1735-0000-0006-B1D1-8.

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Book chapters on the topic "Alport`s syndrome"

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Scolari, F., B. Valzorio, F. Fasciolo, O. Carli, V. Vizzardi, P. Gaggia, P. Tira, R. Maffeis, S. Bonardelli, and R. Maiorca. "Kidney Transplantation in Alport�s Syndrome." In Hereditary Kidney Diseases, 140–42. Basel: KARGER, 1997. http://dx.doi.org/10.1159/000059892.

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Mazzucco, G., P. Barsotti, A. Onetti Muda, M. Fortunato, T. Faraggiana, M. DeMarchi, and G. Monga. "Expression of α(IV) Chains in Alport�s Syndrome and Its Correlation with Ultrastructural and Genetic Data." In Hereditary Kidney Diseases, 129–31. Basel: KARGER, 1997. http://dx.doi.org/10.1159/000059881.

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Conference papers on the topic "Alport`s syndrome"

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Storz, CS, O. Gross, J. Böckhaus, D. Beutner, and N. Strenzke. "Characterization of sensorineural hearing loss in children with Alport syndrome." In Abstract- und Posterband – 91. Jahresversammlung der Deutschen Gesellschaft für HNO-Heilkunde, Kopf- und Hals-Chirurgie e.V., Bonn – Welche Qualität macht den Unterschied. © Georg Thieme Verlag KG, 2020. http://dx.doi.org/10.1055/s-0040-1711322.

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Storz, CS, O. Gross, J. Böckhaus, D. Beutner, and N. Strenzke. "Charakterisierung der Innenohrschwerhörigkeit bei Kindern mit Alport-Syndrom." In Abstract- und Posterband – 91. Jahresversammlung der Deutschen Gesellschaft für HNO-Heilkunde, Kopf- und Hals-Chirurgie e.V., Bonn – Welche Qualität macht den Unterschied. © Georg Thieme Verlag KG, 2020. http://dx.doi.org/10.1055/s-0040-1711923.

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Blockmans, D., M. J. Heynen, J. Vermylen, and R. Verwilghen. "CONGENITAL MACROTHROMBOCYTOPENIA, LEUCOCYTE INCLUSIONS, DEAFNESS AND PROTEINURIA: FUNCTIONAL AND ELECTR0NMICROSCOPIC OBSERVATIONS ON PLATELETS AND MEGAKARYOCYTES." In XIth International Congress on Thrombosis and Haemostasis. Schattauer GmbH, 1987. http://dx.doi.org/10.1055/s-0038-1643928.

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We report here a female patient of 33 years with a variant of Alport's syndrome (macrothrombocytopenia, leucocyte inclusions, deafness and proteinuria). The bleeding problems consisted of ecchymoses and menorrhagia, the deafness was of the ^ensorineural type. The platelet count in whole blood was 14.109/I, the mean platelet volume 22.8 μm3 . The template bleeding time exceeded 30 minutes. Ultrastructural studies of the peripheral blood revealed giant spheroid platelets with a high density of organelles, an abundance of vacuoles and an apparently disorganized microtubular system. In addition, unusual granule free areas were observed in the neutrophils of the patient and her mother. Granulocyte function was normal, except for a low myeloperoxidase content.Functional studies of the platelets in platelet rich plasma showed normal aggregation curves related to the low platelet number, although no shape change could be elicited. Platelet aggregation studies in whole blood (impedance method) gave supernormal aggregation curves; this suggests the limited usefulness of this technique in patients with such large platelets.The bone marrow contained numerous dysplastic megakaryocytes. In the mature granular megakaryocytes vacuoles and cysternae were organized in a radiating pattern demarkating elongated platelet territories. The platelet producing megakaryocytes showed fragmentation of the central zone and discharge of platelets through openings of the peripheral zone. These megakaryocytes had an immunological phenotype resembling that of very young cells (TR 14%, GP IIa 17% and GP IIIa 7%). The conversion of the elongated platelet territories into giant spheroid platelets probably results from remodelling within the circulation. The internalisation of plasma membranes would give rise to the extended invaginated canalicular system. Further studies are needed to explain the exact pathogenesis of this syndrome.

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