Familial Focal Segmental Glomerulosclerosis Cation Channel CausesTRPC 6 A
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چکیده
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A case report: Familial glucocorticoid deficiency associated with familial focal segmental glomerulosclerosis
UNLABELLED BACKGROUND Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder characterized by isolated glucocorticoid deficiency in the presence of normal plasma renin and aldosterone level. Focal segmental glomerulosclerosis (FSGS) is a form of glomerular disease associated with proteinuria and nephritic syndrome. This is the first case of familial glucocorticoid de...
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Podocytes (terminally differentiated epithelial cells of the glomeruli) play a key role in the maintenance of glomerular structure and permeability and in the incipiency of various renal abnormalities. Injury to podocytes is considered a major contributor to the development of kidney disease as their loss causes proteinuria and progressive glomerulosclerosis. The physiological function of podoc...
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 کاملTRPC6 channel as an emerging determinant of the podocyte injury susceptibility
25 Podocytes (terminally differentiated epithelial cells of the glomeruli) play a key role in 26 the maintenance of glomerular structure and permeability and in the incipiency of 27 various renal abnormalities. Injury to podocytes is considered a major contributor to the 28 development of the kidney disease as their loss causes proteinuria and progressive 29 glomerulosclerosis. The physiologica...
متن کاملA locus for adolescent and adult onset familial focal segmental glomerulosclerosis on chromosome 1q25-31.
Focal segmental glomerulosclerosis is a nonspecific renal lesion observed both as a primary (idiopathic) entity and in a secondary form, typically in association with reduced functional renal mass. Familial forms have been observed and two loci for autosomal dominant FSGS have been mapped. This study shows that an adolescent/adult form of recessive FSGS maps to a locus on chromosome 1q25-31, wh...
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