نتایج جستجو برای: alport syndrome
تعداد نتایج: 622022 فیلتر نتایج به سال:
INTRODUCTION Alport Syndrome has a prevalence of 1 case per 5,000 people and 85% of patients have the X-linked form, where affected males develop renal failure and usually have high-tone sensorineural deafness by age 20. The main abnormality is deficient synthesis of type IV collagen, the main component of basement membranes. Common ocular abnormalities of this syndrome consist of dot-and-fleck...
Glomerulopathies due to defective known genes are partially or completely reversed at 24 months without becoming a central source of information in the field clear change in creatinine clearance. Other reports deof mechanisms of progression of renal disease. Among scribed no effects of ACE inhibitor in few sporadic cases. hereditary diseases, Alport syndrome of glomerulopathy In this issue of K...
No specific or efficient treatment exists for Alport syndrome, an X-linked hereditary disease caused by mutations in collagen type IV, a crucial component of the glomerular basement membrane. Kidney failure is usually a major complication of the disease, and patients require renal replacement therapy early in life. Microhematuria and subsequently proteinuria are hallmarks of kidney involvement,...
BACKGROUND Alport syndrome (AS) is a hereditary nephropathy characterized by progressive renal failure, hearing loss and ocular lesions. Numerous mutations of the COL4A5 gene encoding the alpha 5-chain of type IV collagen have been described, establishing the molecular cause of AS. The goal of the present study was to identify the genotype-phenotype correlations that are helpful in clinical cou...
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