Alport-Syndrom
Jedlicka, Jan (2011): Die interstitielle Entzündung im Rahmen des Alport Syndroms. Dissertation, LMU München: Medizinische Fakultät
... Das Alport Syndrom (AS) ist eine seltene glomeruläre Erkrankung, die durch Alterationen an der Ultrastruktur der Alpha-Ketten des Kollagen Typ IV ausgelöst ...des Alport Syndroms spielt die ...
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Loss of the BMP antagonist USAG 1 ameliorates disease in a mouse model of the progressive hereditary kidney disease Alport syndrome
... The glomerular basement membrane (GBM) is a key component of the filtering unit in the kidney. Mutations involving any of the collagen IV genes (COL4A3, COL4A4, and COL4A5) affect GBM assembly and cause Alport ...
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COL4A4 gene. The results add to the spectrum of mutations in COL4A4 of Alport syndrome.
... [6] Fallerini C, Dosa L, Tita R, Del Prete D, Feriozzi S, Gai G, Clementi M, La Manna A, Miglietti N, Mancini R, Mandrile G, Ghiggeri GM, Piaggio G, Brancati F, Diano L, Frate E, Pinciaroli AR, Giani M, Castorina P, ...
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Optic Disc Drusen in a Child Diagnosed with Alport Syndrome—Case Report
... Interestingly, optic disc drusen and the well-documented ocular abnormalities of Alport syndrome share the tendency for late diagnosis. Optic disc drusen is not easily identifiable in children as mostly the drusen ...
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Phenotype variability in a large Spanish family with Alport syndrome associated with novel mutations in COL4A3 gene
... ACE: Inhibitors, angiotensin converting enzyme; ADAS: Dominant autosomal form of AS; ARAS: Recessive autosomal form of AS; ARB: Angiotensin II receptor blockers; AS: Alport syndrome; BFH[r] ...
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Angiotensin converting enzyme inhibitor therapy in children with Alport syndrome: effect on urinary albumin, TGF-β, and nitrite excretion
... Our data indicate that in early AS, hematuria and sub-ne- phrotic range proteinuria are exclusively the result of in- trinsic glomerular barrier dysfunction and are not the consequence of acutely reversible alterations ...
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Original Article Long-term follow-up of an Alport syndrome patient with a novel mutation of COL4A5
... Background: Alport syndrome (AS) is a genetic disease characterized by progressive glomerulonephritis with a high life-time risk for end-stage renal disease (ESRD), sensorineural hearing loss and ocular ...
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An overlap of Alport syndrome and rheumatoid arthritis in a patient and literature review
... of Alport syndrome and RA in present case may be occasional, abnormal type IV collagen might par- ticipate in the pathogenesis of RA, which needs more re- lated case reports and studies to prove in ...
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Retrospective genetic analysis illustrates the spectrum of autosomal Alport syndrome in a case of living-related donor kidney transplantation
... Case presentation: We describe the outcome of an exceptional AB0-incompatible kidney donation from father to son in a family with altered COL4A3. While decision-making was based on extensive clinical donor evaluation ...
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Long-term management of Alport syndrome in pediatric patients
... with Alport syndrome would inexorably progress to end-stage renal disease, with dialysis and renal transplantation as their only therapeutic ...of Alport syndrome enabling studies of therapeutic ...
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Non-collagen genes role in digenic Alport syndrome
... For the first time, here we describe three families, two with an apparent autosomal dominant ATS and one with an X-linked pattern of transmission, in which a patho- genic mutation in COL4A4 or COL4A5 cosegregate with a ...
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A rare case of Alport syndrome, atypical hemolytic uremic syndrome and Pauci-immune crescentic glomerulonephritis
... aHUS: Atypical hemolytic uremic syndrome; AS: Alport syndrome; PCGN: Pauci-immune necrotizing crescentic glomerulonephritis; TMA: Renal thrombotic microangiopathy.. Acknowledgements.[r] ...
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Deletions in the COL4A5 collagen gene in X linked Alport syndrome Characterization of the pathological transcripts in nonrenal cells and correlation with disease expression
... The type IV collagen alpha 5 chain (COL4A5) gene of 88 unrelated male patients with X- linked Alport syndrome was tested for major gene rearrangements by Southern blot analysis, using COL4A5 cDNA probes. 14 ...
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Molecular testing for adult type Alport syndrome
... Utah Alport Study cases have accumulated from across the whole of the United States and for most of this time our center was the only one collecting cases on a systematic ...
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Ninichuk, Volha (2008): The role of chemokine receptor CCR1-dependent macrophage recruitment for the progression of chronic kidney disease in murine Alport syndrome or type 2 diabetes. Dissertation, LMU München: Medizinische Fakultät
... We addressed this question by blockade of interstitial macrophage recruitment with specific CCR1 antagonists in COL4A3-deficient mice, a mouse model for human Alport disease and uninep[r] ...
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Challenge in pathologic diagnosis of Alport syndrome: evidence from correction of previous misdiagnosis
... Cecil Alport in 1927 as “ a dominantly inherited hereditary nephritis ” characterized by hematuria and nerve deafness, affecting both the male and the female members of the family ...
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Osteopontin deficiency ameliorates Alport pathology by preventing tubular metabolic deficits
... A. Alport as a rare hereditary congenital hemor- rhagic nephritis ...of Alport syndrome consist of proteinuria, hypertension, progres- sive renal failure, high-frequency sensorineural hearing loss, and ...
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The prevalence and epidemiology of genetic renal disease amongst adults with chronic kidney disease in Australia
... may be an underestimate. The GRD spectrum is vast, encompassing many different diseases and disease grou- pings. Causative genetic and pathobiological understan- ding of some is advanced, as in ADPKD [10-13] and ...
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Association of hearing impairment with chronic kidney disease: a cross-sectional study of the Korean general population
... The KNHANES is a cross-sectional and nationally rep- resentative survey composed of a health questionnaire survey, health examination, and nutrition survey. The KNHANES V was conducted from 2010 to 2012 using a ...
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Nephritogenic antigen determinants in epidermal and renal basement membranes of kindreds with Alport type familial nephritis
... with Alport-type familial nephritis (FN) for the presence of antigens reactive with Goodpasture sera (GPS) and serum (FNS) from an Alport patient who developed anti-glomerular basement membrane (GBM) ...
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