Primary tubulopathies are rare diseases. Most of them have an autosomal recessive inheritance. The possibility of currently having molecular biology techniques has made it possible to know the intimate genetic cause of these diseases and to discover that these disorders are more frequent in territories where in the past there was a greater or lesser degree of consanguinity. . On the other hand, population displacements that are as old as humanity are the cause of the spread of some diseases of genetic origin. Their knowledge allows researchers to follow the steps that certain chromosomal mutations have followed from the place of origin of the “founding ancestor” to other places located, often in very distant places on the planet.
A review of some available findings on the molecular basis of certain tubulopathies and of two kidney disorders causing kidney stones, in relation to inbreeding and population displacement