Aleksandrov V P, Tiktinskiĭ O L, Novikov I F, Mikhaĭlichenko V V, Gnoian V P
Urol Nefrol (Mosk). 1993 Jul-Aug(4):16-9.
To specify the implication of the genetic factors in formal genesis of urolithiasis, the pattern of stone formation was investigated in 206 probands with urolithiasis hereditary loading versus 324 patients rejecting family history of this disease. Distribution of the disease forms was considered in correlation with mineral metabolism derangement and hereditary loading in the proband. It was found that severe urolithiasis occurs more frequently in the groups with phosphorus-calcium urolithiasis. These groups also included many families with the disease history. Numerous cases of urolithiasis of hyperparathyroidism etiology suggest endocrine disorders involvement in urolithiasis onset. Clarification of hereditary loading and its distribution in the families of urolithiasis patients allows a purposeful control of the families members to render them prophylactic aid.
为明确遗传因素在尿石症形成过程中的作用，对206例有尿石症遗传负荷的先证者与324例否认有该病家族史的患者的结石形成模式进行了研究。考察了疾病形式的分布与先证者矿物质代谢紊乱及遗传负荷的相关性。结果发现，在磷钙性尿石症组中，严重尿石症更为常见。这些组中也包括许多有家族病史的家庭。甲状旁腺功能亢进病因导致的尿石症病例众多，提示内分泌紊乱参与了尿石症的发病过程。明确尿石症患者家族中的遗传负荷及其分布情况，有助于对家庭成员进行有针对性的管控，以便为他们提供预防性帮助。
