Enfermedad antimembrana basal glomerular en un paciente transplantado renal con enfermedad de Alport. Research output: Contribution to journal › Article. Pero el conocimiento molecular de estas enfermedades ha hecho que podamos agruparlas bajo otros epígrafes, como son: síndrome de Alport ligado al sexo. The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care.

Author: Sasar Voodoor
Country: Estonia
Language: English (Spanish)
Genre: Software
Published (Last): 18 February 2012
Pages: 80
PDF File Size: 8.67 Mb
ePub File Size: 5.18 Mb
ISBN: 167-7-51811-374-7
Downloads: 41417
Price: Free* [*Free Regsitration Required]
Uploader: Kikus

Mapping of Alport syndrome to the long arm of the X chromosome. Their biopsies showed little or no glomerular changes other than attenuation of the lamina densa on electron microscopy. Progression to renal failure was gradual and usually occurred in males by the fifth decade.

Orphanet: S ndrome de Alport ligado al X

Molecular cloning of the human Goodpasture antigen demonstrates it to be the alpha-3 chain of type IV collagen. In affected Utah kindreds, Menlove et al. Genetics of classic Alport’s syndrome. These data suggested that Alport syndrome patients with a type IV collagen mutation resulting in absence of the NC domain have an increased risk of developing anti-GBM nephritis after renal transplantation.

Despite enfremedad wide variability, they concluded that renal biopsy can identify female patients heterozygous for X-linked Alport syndrome. The findings in studies of the enfermeddad suggested that anti-GBM antibodies in mice facilitate disease only in MHC haplotypes capable of generating nephritogenic lymphocytes with special T-cell repertoires.

Patients with Alport syndrome constituted 2. The renal disease became evident as recurrent microscopic or gross hematuria as early as childhood, earlier in males than in females. A possibly distinct entity was hereditary nephritis without deafness reported by Reyersbach and Butler and Dockhorn Familial nephropathy in the cocker spaniel.


There was a problem providing the content you requested

The proband’s mother was known to have microhematuria. Since age 2, the older daughter had had mild irregular microhematuria with normal renal function; a renal biopsy at age 8 showed a thinning of the glomerular basement membrane.

Renal transplantation in Alport’s syndrome: In 2 cases with severe deafness, 1 had had a histologically normal inner ear, enfermeead the other had a marked reduction in spinal ganglion cochlear neurons. At the latest follow-up, 6 boys with familial hematuria and 3 boys with nonfamilial hematuria had reduced renal function, and 9 boys with familial hematuria and 4 boys and 1 girl with nonfamilial hematuria had sensorineural deafness.

Spear suggested enfermedadd a primary structural abnormality of basement membranes underlies the phenotype of Alport syndrome.

The specificity of the finding was supported by persistence of other glomerular basement membrane antigens, and the findings were compatible with X-linked inheritance. As a result, Alport’s name became synonymous with a familial progressive nephropathy, first manifested by hematuria and associated with deafness, that is particularly severe in affected males.


CO;2- ] M’Rad, R. Nephrocalcinosis and azotemia in a young man. Flinter and Bobrow studied 41 families and concluded that Alport syndrome may be less heterogeneous than previously thought. Alport reported a enfrmedad in which affected individuals showed progressive renal disease with hematuria and deafness.

One of 3 clinical phenotypes occurred in each of the 23 kindreds: Molecular genetic studies identified 2 mutations in cis in the COL4A5 gene After reaching enfermedas values of creatinine, the patient presented with deteriorating renal function three months after a cadaver transplant and the biopsy showed crescent formation, and linear IF deposits. Penetrance was estimated as 0.


A kindred reported by Ohlsson differed from others reported in that myopia was a conspicuous feature and enfermfdad impairment of renal function in the affected males was relatively mild, even in 2 over age 30 years. Nielsen suggested that anterior lenticonus may be a specific sign of Alport syndrome, since all recently reported cases e.

The immunofluorescent stains of basement enfer,edad demonstrated the Lyon phenomenon of X inactivation in a particularly graphic manner. In 2 of them, 2 episodes over a period of 1 to 3 years had occurred; the third brother had approximately 60 episodes over the previous 10 years. Congenital hereditary nephritis with nerve deafness. The authenticity of the model was established by demonstration of mutation in the COL4A5 gene Zheng et al.

Antithyroid antibodies in Alport’s syndrome. Complications of Renal Transplant Milliner et al. Strong linear binding of MCA-P1 to GBM was found in all 29 patients without evidence of hereditary nephritis and in 2 with possible but not definite hereditary nephritis. The epitopes reactive with anti-GBM antibodies are located in the noncollagenous globular domain of type IV collagen. All patients except 1 had juvenile Alport syndrome.

Affected males died early of uremia, while females lived to old age.