Clinical and laboratory features that differentiate familial from sporadic focal segmental glomerulosclerosis in adolescents and adults
نویسندگان
چکیده
منابع مشابه
Clinical and genetic heterogeneity in familial focal segmental glomerulosclerosis. International Collaborative Group for the Study of Familial Focal Segmental Glomerulosclerosis.
BACKGROUND Familial forms of focal segmental glomerulosclerosis (FFSGS) that exhibit autosomal dominant or recessive patterns of inheritance have been described. The genetic basis of these hereditary forms of FSGS is unknown. One recent study of a kindred from Oklahoma with an autosomal dominant form of FSGS linked this disease to a region of chromosome 19q. In addition, polymorphisms in a gene...
متن کاملSpectrum of disease in familial focal and segmental glomerulosclerosis.
BACKGROUND Focal segmental glomerulosclerosis (FSGS) is the underlying pathologic entity in 5% of adults and 20% of children with end-stage renal disease (ESRD). FSGS is generally considered to be sporadic in origin. METHODS Recently, we identified 60 families involving 190 individuals with familial FSGS, providing evidence for a subset of families in which a genetic form is segregating. Each...
متن کاملGenetic testing for podocyte genes in sporadic focal segmental glomerulosclerosis.
Focal segmental glomerulosclerosis (FSGS) is a clinicopathological entity that manifests with severe proteinuria and/or nephrotic syndrome. FSGS is considered to represent a pattern of glomerular scarring, rather than a specific disease entity. The histological hallmark of FSGS is characterized by sclerosis that involves some, but not all, glomeruli and the affected glomeruli typically show inv...
متن کاملMYO1E mutations and childhood familial focal segmental glomerulosclerosis.
BACKGROUND Focal segmental glomerulosclerosis is a kidney disease that is manifested as the nephrotic syndrome. It is often resistant to glucocorticoid therapy and progresses to end-stage renal disease in 50 to 70% of patients. Genetic studies have shown that familial focal segmental glomerulosclerosis is a disease of the podocytes, which are major components of the glomerular filtration barrie...
متن کاملA role for genetic susceptibility in sporadic focal segmental glomerulosclerosis.
Focal segmental glomerulosclerosis (FSGS) is a syndrome that involves kidney podocyte dysfunction and causes chronic kidney disease. Multiple factors including chemical toxicity, inflammation, and infection underlie FSGS; however, highly penetrant disease genes have been identified in a small fraction of patients with a family history of FSGS. Variants of apolipoprotein L1 (APOL1) have been lin...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Journal of Rare Diseases Research & Treatment
سال: 2021
ISSN: 2572-9411
DOI: 10.29245/2572-9411/2021/1.1199