The first experience in Russia of using DNA diagnosis in Alport's syndrome in a family with a unique morphological picture of the kidney lesion

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...

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Published inTerapevtic̆eskii arhiv Vol. 67; no. 4; p. 45
Main Authors Tsalikova, F D, Ignatova, M S, Krasnopol'skaia, K D, Tverskaia, S M, Brydun, A V
Format Journal Article
LanguageRussian
Published Russia (Federation) 1995
Subjects
Adolescent
Adult
Biopsy
Collagen - genetics
Diagnosis, Differential
DNA - genetics
Female
Genetic Linkage
Humans
Kidney - pathology
Male
Mutation
Nephritis, Hereditary - diagnosis
Nephritis, Hereditary - genetics
Nephritis, Hereditary - pathology
Pedigree
Polymerase Chain Reaction
Russia
X Chromosome - genetics
Russia
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Summary: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.
ISSN:0040-3660