[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 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.
Tsalikova
F D
FD
Ignatova
M S
MS
Krasnopol'skaia
K D
KD
Tverskaia
S M
SM
Brydun
A V
AV
D000293:Adolescent; D000328:Adult; D001706:Biopsy; D003094:Collagen / Q000235:genetics; D004247:DNA / Q000235:genetics*; D003937:Diagnosis, Differential; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D007668:Kidney / Q000473:pathology*; D008297:Male; D009154:Mutation; D009394:Nephritis, Hereditary / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012426:Russia; D014960:X Chromosome / Q000235:genetics
D003094:Collagen; D004247:DNA
Pervyĭ v Rossii opyt ispol'zovaniia DNK-diagnostiki pri sindrome Al'porta v sem'e so svoeobraznoĭ morfologicheskoĭ kartinoĭ pochechnogo porazheniia.