Morin D
Service de pédiatrie I, Hôpital Amaud-de-Villeneuve, CHU, Montpellier.
Rev Prat. 1997 Sep 15;47(14):1559-65.
Renal tubular disorders include various clinical conditions wherein the renal tubular reabsorption of an ion or organic solute is significantly decreased. It may concern the renal handling of a single substance, such as glucose or phosphate, a group of substances or a combination of ions and organic substances. Close to this group of diseases, it is also possible to consider two conditions due to renal tubular resistance to vasopressin and parathyroid hormone: congenital nephrogenic diabetes insipidus and pseudohypoparathyroidisms, respectively. Clinically, the urinary loss of these substances may be inapparent, like in familial glucosuria, but in most cases, it may be responsible for characteristic disorders such as failure to thrive, dehydration, rickets, etc. Recently, physiological and molecular cloning studies have brought crucial information for testing candidate genes and understanding the underlying molecular bases of these disorders.
肾小管疾病包括各种临床病症,其中离子或有机溶质的肾小管重吸收显著降低。它可能涉及单一物质(如葡萄糖或磷酸盐)、一组物质或离子与有机物质组合的肾脏处理。在这组疾病附近,还可以考虑由于肾小管对血管加压素和甲状旁腺激素抵抗引起的两种病症:分别是先天性肾性尿崩症和假性甲状旁腺功能减退症。临床上,这些物质的尿流失可能不明显,如家族性糖尿,但在大多数情况下,可能导致诸如发育不良、脱水、佝偻病等特征性病症。最近,生理学和分子克隆研究为测试候选基因和理解这些疾病的潜在分子基础带来了关键信息。