[Renal glycosuria: dominant or recessive autosome anomaly? Mode of hereditary transmission based on the analysis of a 3-generation family tree].
Assessment of the pedigree of 7 persons in 3 generations showed that interpretation of the transmission modality of renal glycosuria may be influenced by the diagnostic criteria employed. Analysis of renal glucose curves and evaluation of glycosuria after an oral glucose tolerance test made it clear that albeit slight detects could be detected in family members who would be regarded as healthy according to the criteria of Marble. Distribution of the character pointed to dominant transmission, as opposed to the recessive autosomal transmission favoured in the literature. Variations in the clinical gravity of the tubular defect may be ascribable to a difference in the expressiveness of the abnormal gene or to genetic heterogeneity. Persons homozygous and heterozygous for the gene were present in the pedigree concerned.
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D005260:Female; D005799:Genes, Dominant; D005808:Genes, Recessive; D006030:Glycosuria, Renal / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree
Glicosuria renale: anomalia autosomica dominante o recessiva? Osservazioni sulle modalità di trasmissione ereditaria desunte dall'analisi di un albero genealogico con tre generazioni.