| Autor: |
Tsalikova FD, Ignatova MS, Krasnopol'skaia KD, Tverskaia SM, Brydun AV |
| Jazyk: |
ruština |
| Zdroj: |
Terapevticheskii arkhiv [Ter Arkh] 1995; Vol. 67 (4), pp. 45-7. |
| Abstrakt: |
Clinicomorphological findings are reported for two children from families with hereditary predisposition to hematuria characterized by early occurrence of chronic renal insufficiency, neurosensory hypoacusis, congenital ocular abnormalities inherited by sex-linked dominant type. Light microscopy of nephrobiopsies revealed diffuse mesangial proliferation in both children. Final diagnosis of Alport's syndrome was feasible only on molecular-genetic level after polymerase chain reactions had identified mutation in collagen type 4 alpha-5-chain gene on a long arm of X-chromosome in genotypes of both patients and their mothers. Genetical, clinical, morphological, evolutional and diagnostic aspects of Alport's syndrome are reviewed. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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