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Jason and Ashley were tested for Alport's Syndrome when they were born because Ann's father, uncle, aunt, sister and two cousins had it.
A comparison of the clinical, histopathologic, and ultrastructural phenotypes in carriers of X-linked and autosomal recessive Alport's syndrome.
Reversal of deafness after renal transplantation in Alport's syndrome.
In April last year, 39-year-old James gave a kidney to his 37-year-old wife, who suffers from Alport's Syndrome, which causes kidneys to fail.
Molecular genetics has played a key role in nephrology, particularly in determining the genetic origins of single gene disorders including polycystic kidney disease, cystinuria, Alport's syndrome, Bartter's syndrome, and various renal neoplasms (George & Neilson, 2000).
In comparing the glomerular basement abnormalities in patients with familial hereditary nephritis (Alport's syndrome) and TGBM nephropathy, Piel et al (23) in 1982 suggested the possibility that Alport's syndrome and TGBM may be variations in the spectrum of inherited abnormalities in the formation of the GBM.
Alport's syndrome, which primarily affects boys, causes auditory nerve damage leading to deafness and kidney failure.
INTRODUCTION: Alport's syndrome is an inherited progressive renal disease that is accompanied by sensorineural hearing loss and ocular abnormalities that affects 1 in 50,000 live births.