نتایج جستجو برای: alport syndrome
تعداد نتایج: 622022 فیلتر نتایج به سال:
BACKGROUND AND OBJECTIVES Alport syndrome comprises a group of inherited heterogeneous disorders involving CKD, hearing loss, and ocular abnormalities. Autosomal dominant Alport syndrome caused by heterozygous mutations in collagen 4A3 and/or collagen 4A4 accounts for <5% of patients. However, the clinical, genetic, and pathologic backgrounds of patients with autosomal dominant Alport syndrome ...
Alport syndrome and encapsulating peritoneal sclerosis (EPS) are both rare diseases. Their joint occurrence is highly unlikely. Two patients at our center with Alport syndrome developed EPS. We therefore hypothesized that Alport syndrome might predispose to the development of EPS and that this predisposition might be reflected in a fast peritoneal transport rate at baseline. We compared the mas...
BACKGROUND AND OBJECTIVES Patients with the hereditary disease Alport syndrome commonly require renal replacement therapy (RRT) in the second or third decade of life. This study compared age at onset of RRT, renal allograft, and patient survival in men with Alport syndrome receiving various forms of RRT (peritoneal dialysis, hemodialysis, or transplantation) with those of men with other renal d...
alport syndrome is a progressive hereditary nephritis leading to renal failure. nearly all of the documents declare that alport syndrome is inherited as x-linked dominant trait and reports of autosomal inheritance form is very rare. this paper presents an iranian large alport family with autosomal recessive inheritance. in our patients alport disease was confirmed with electron microscopic stud...
Alport syndrome is a progressive renal disease caused by mutations in COL4A3, COL4A4, and COL4A5 genes that encode collagen type IV alpha 3, alpha 4, and alpha 5 chains, respectively. Because of abnormal collagen chain, glomerular basement membrane becomes fragile and most of the patients progress to end-stage renal disease in early adulthood. COL4A5 mutation causes X-linked form of Alport synd...
Insights gained during the last 30 years of research in Alport syndrome have influenced the way potential related kidney donors for Alport patients with end-stage renal disease (ESRD) are assessed. Awareness of Alport syndrome among clinicians and families has increased greatly, so the disease is more likely to be suspected in patients with haematuria and in kindreds with renal disease. Widespr...
purpose: to report three cases of alport syndrome in one family with anterior lenticonus and retinal flecks. patients and findings: three members of one family with consanguineous parents are presented who had renal and ocular involvement. they had anterior lenticonus and a beaten bronze appearance in the macula. reduced visual acuity and photophobia were the chief complaints of these patients...
BACKGROUND Alport syndrome is a progressive genetic disease which is characterised by glomerulonephritis, sensorineural deafness and ocular abnormalities. We aimed to present a clinical case of a patient with Alport syndrome with spontaneous anterior lens capsule rupture. CASE REPORT A 16-year-old male with histologically proven Alport syndrome was hospitalised in the Department of Ophthalmol...
BACKGROUND Alport syndrome is an inherited disease resulting in kidney failure, hearing loss and ocular abnormalities. Alport syndrome is however often unrecognized, and the aim of this study was to characterize the associated but rarely described peripheral retinopathy and determine whether its demonstration was diagnostically helpful. METHODS Index cases were diagnosed with Alport syndrome ...
Few prospective, randomized controlled clinical trials address the diagnosis and management of patients with Alport syndrome or thin basement membrane nephropathy. Adult and pediatric nephrologists and geneticists from four continents whose clinical practice focuses on these conditions have developed the following guidelines. The 18 recommendations are based on Level D (Expert opinion without e...
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