منابع مشابه
A new locus for familial FSGS on chromosome 2p.
FSGS is a clinicopathologic entity characterized by nephrotic syndrome and progression to ESRD. Although the pathogenesis is unknown, the podocyte seems to play a central role in this disorder. Here, we present six kindreds with hereditary FSGS that did not associate with mutations in known causal genes, and we report a new locus for the disease on chromosome 2p15 in one kindred. We performed g...
متن کاملAn expanding universe of FSGS genes and phenotypes: LMX1B mutations cause familial autosomal dominant FSGS lacking extrarenal manifestations.
At present, there are 24 genes associated with FSGS that follow Mendelian patterns of inheritance. These patterns of inheritance include autosomal recessive, autosomal dominant, and X-linked as well as inheritance of mitochondrial DNA. The phenotypes include syndromic FSGS, in which manifestations occur in other tissues, and nonsyndromic FSGS, in which disease is limited to the kidney. The list...
متن کاملGenetic mutational testing of Chinese children with familial hematuria with biopsy-proven FSGS
Focal segmental glomerulosclerosis (FSGS) is a pathological lesion rather than a disease, with a diverse etiology. FSGS may result from genetic and non‑genetic factors. FSGS is considered a podocyte disease due to the fact that in the majority of patients with proven‑FSGS, the lesion results from defects in the podocyte structure or function. However, FSGS does not result exclusively from podoc...
متن کاملGlomerular diseases: FSGS.
FSGS is a lesion, not a disease. The separation into primary FSGS (a result of immunologic-mediated injury) versus secondary FSGS (related to a variety of causes) is often difficult. Even when this particular issue is carefully evaluated, the therapeutic implications are not always apparent. Newer literature on both biomarker discovery and on the genetic basis of FSGS is reviewed in this contex...
متن کاملUnique X-linked familial FSGS with co-segregating heart block disorder is associated with a mutation in the NXF5 gene.
Focal segmental glomerulosclerosis (FSGS) is the consequence of a disease process that attacks the kidney's filtering system, causing serious scarring. More than half of FSGS patients develop chronic kidney failure within 10 years, ultimately requiring dialysis or renal transplantation. There are currently several genes known to cause the hereditary forms of FSGS (ACTN4, TRPC6, CD2AP, INF2, MYO...
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ژورنال
عنوان ژورنال: Advances in Chronic Kidney Disease
سال: 2014
ISSN: 1548-5595
DOI: 10.1053/j.ackd.2014.06.001