نتایج جستجو برای: alport syndrome
تعداد نتایج: 622022 فیلتر نتایج به سال:
BACKGROUND Alport syndrome and ANCA-associated vasculitis are both rare diseases. The co-existence of these two conditions has never been reported. There is no obvious pathogenic link between these two glomerular diseases. The management of this case highlights the importance of a systematic approach when investigating the unexpected unfavourable evolution of a known glomerulopathy. CASE PRES...
AIM/BACKGROUND Alport syndrome is an X linked disease that results in renal failure, deafness, and ocular abnormalities including a dot and fleck retinopathy and anterior lenticonus. The ultrastructural appearance of the glomerular basement membrane in thin basement membrane disease (TBMD) resembles that seen in some patients with Alport syndrome, and in some cases this disease is inherited too...
Correspondence: Clifford E Kashtan Department of Pediatrics, Division of Nephrology, 2450 Riverside Avenue, East Building, 6th Floor, MB679 University of Minnesota Medical School, Minneapolis, MN, USA Email [email protected] Abstract: Alport syndrome, an important inherited cause of end-stage renal disease, has long been considered an untreatable disorder. That view is changing as a result of tr...
Improving mutation screening in familial hematuric nephropathies through next generation sequencing.
Alport syndrome is an inherited nephropathy associated with mutations in genes encoding type IV collagen chains present in the glomerular basement membrane. COL4A5 mutations are associated with the major X-linked form of the disease, and COL4A3 and COL4A4 mutations are associated with autosomal recessive and dominant forms (thought to be involved in 15% and 1%-5% of the families, respectively) ...
X linked Alport syndrome (ATS, OMIM 301050) is a hereditary glomerulonephritis resulting from either point mutations or intragenic deletions of the COL4A5 gene encoding the α5 chain of type IV collagen. Contiguous gene syndromes are phenotypically complex disorders associated with the deletion of multiple adjacent genes. There are several examples of such syndromes on the X chromosome. 5 Until ...
The glomerular basement membrane (GBM), a principal component of the filtration barrier, is abnormal in several renal diseases. Notable examples include Alport syndrome, Goodpasture (GP) syndrome, and diabetic nephropathy. This commonality, as defined by previous clinical and basic studies, has provided the impetus to explore the chemistry and biology of the GBM as a basis for discovery of path...
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