Aortic abnormalities in males with Alport syndrome
نویسندگان
چکیده
منابع مشابه
Anterior lens capsule abnormalities in Alport syndrome.
Alport syndrome is a hereditary, progressive disease characterized by progressive nephritis, sensorineural deafness, and ocular abnormalities, including anterior lenticonus. The ultrastructure of the lens capsule abnormalities in Alport syndrome is reported. Four anterior lens capsules from 31-year-old patient and 26-year-old patient with lenticonus who were affected by the Alport syndrome were...
متن کاملRetinal basement membrane abnormalities and the retinopathy of Alport syndrome.
PURPOSE To determine the effects of X-linked and autosomal recessive Alport syndrome on retinal basement membranes and how these result in the characteristic perimacular dot-and-fleck retinopathy, lozenge, and macular hole. METHODS The type IV collagen chains present in the normal retina were determined immunohistochemically. Ten patients with Alport syndrome underwent retinal photography and...
متن کاملAlport Syndrome
A.K. was a 5-year-old boy who presented to the pediatric nephrology clinic with a recent finding of microscopic hematuria and proteinuria on routine screening. The analysis was repeated two weeks later with persistence of hematuria and proteinuria. A complete blood count (CBC) and a metabolic panel (Chem7) were both normal. Renal ultrasound was performed which was also normal and without hydron...
متن کاملX-linked Alport syndrome: natural history in 195 families and genotype- phenotype correlations in males.
Alport syndrome (AS) is a type IV collagen hereditary disease characterized by the association of progressive hematuric nephritis, hearing loss, and, frequently, ocular changes. Mutations in the COL4A5 collagen gene are responsible for the more common X-linked dominant form of the disease. Considerable allelic heterogeneity has been observed. A "European Community Alport Syndrome Concerted Acti...
متن کاملDiagnosis of Alport syndrome
chain altered distribution in a much higher proportion of patients with X-linked AS [5]. It is our experience that skin biopsy, examined with conventional, and if needed, with confocal microscopy, is able to virtually detect (almost) all cases of X-linked AS [5], thus allowing to avoid or to postpone more invasive and/or expensive diagnostic procedure like renal biopsy and genetic investigation...
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ژورنال
عنوان ژورنال: Nephrology Dialysis Transplantation
سال: 2010
ISSN: 1460-2385,0931-0509
DOI: 10.1093/ndt/gfq271