De Marchi S, Proto G, Jengo A, Collinassi P, Basile A
Minerva Med. 1983 Feb 25;74(7):301-6.
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.
对三代7人的家系评估表明，肾性糖尿遗传方式的解释可能受所采用诊断标准的影响。对肾葡萄糖曲线的分析以及口服葡萄糖耐量试验后糖尿的评估表明，尽管根据马布尔标准被视为健康的家庭成员中可检测到轻微异常。该性状的分布表明为显性遗传，与文献中倾向的隐性常染色体遗传相反。肾小管缺陷临床严重程度的差异可能归因于异常基因表达的差异或遗传异质性。在所涉及的家系中存在该基因的纯合子和杂合子个体。
