Mosaicism in Alport syndrome and genetic counselling
نویسندگان
چکیده
منابع مشابه
Alport syndrome. Molecular genetic aspects.
Alport syndrome (AS) is a progressive renal disease that is characterised by hematuria and progressive renal failure, and often accompanied by progressive high-tone sensorineural hearing loss and ocular changes in form of macular flecks and lenticonus. AS is a genetic heterogenous disease, and X-linked dominant in about 85% of the families. The autosomal recessive and dominant forms constitute ...
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A family with Pfeiffer's syndrome is presented in which members of two generations showed only partial but relevant syndactyly before a child was born, in the third generation, with the full acrocephalosyndactyly syndrome.
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 کاملGenetic testing can resolve diagnostic confusion in Alport syndrome
Alport syndrome (AS) is a familial glomerular disorder resulting from mutations in the genes encoding several members of the type IV collagen protein family. Despite advances in molecular genetics, renal biopsy remains an important initial diagnostic tool. Histological diagnosis is challenging as features may be non-specific, particularly early in the disease course and in females with X-linked...
متن کاملMeta-analysis of genotype-phenotype correlation in X-linked Alport syndrome: impact on clinical counselling.
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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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2000
ISSN: 1468-6244
DOI: 10.1136/jmg.37.9.717