Feingold J, Bois E, Chompret A, Broyer M, Gubler M C, Grünfeld J P
Kidney Int. 1985 Apr;27(4):672-7. doi: 10.1038/ki.1985.63.
Forty-one families have been studied with stringent diagnostic criteria of Alport syndrome: proven renal disease with hematuria affecting at least two relatives, neural hearing loss in at least one affected individual, and evolution to renal failure in at least one affected individual. The proportion of affected offsprings of affected females does not significantly differ from the ratio expected for a dominant trait. The descendance of affected males shows a lack of affected males. In four families, with parental consanguinity and nonaffected parents, the findings agree with an autosomal recessive inheritance. Study of quantitative traits such as death or renal death among brothers, uncle-nephew pairs and whole families shows evident intra-familial resemblances. We conclude that Alport syndrome seems to be a heterogeneous state composed of a number of genetically distinct syndromes, with an autosomal dominant, an X-linked dominant, and an autosomal recessive form.
对41个家庭进行了研究，采用了严格的Alport综合征诊断标准：确诊的肾病伴有血尿，至少影响两名亲属；至少一名患病个体有神经性听力损失；至少一名患病个体发展为肾衰竭。患病女性的患病后代比例与显性性状预期比例无显著差异。患病男性的后代中没有患病男性。在四个父母近亲且父母未患病的家庭中，研究结果符合常染色体隐性遗传。对兄弟、叔侄对和整个家庭中的死亡或肾衰竭等数量性状的研究表明，家庭内部存在明显的相似性。我们得出结论，Alport综合征似乎是一种异质性疾病，由多种基因不同的综合征组成，包括常染色体显性、X连锁显性和常染色体隐性形式。
