Hereditary tubulopathy in the practice of adult nephrology. Case report

Abstract

For a long time it was believed that hereditary tubulopathies, manifested by a wide range of peculiar disorders of ionic and acid-base homeostasis, are exclusively the prerogative of pediatricians. However, modern ideas about the pathogenesis of hereditary tubulopathies, methods of their diagnosis and treatment, have led to the fact that the meeting of an “adult” nephrologist with this pathology is not so rarely observed. On the one hand, the survival rate of patients whose hereditary tubulopathies were diagnosed in children, and even in antenatal age, has sharply increased. On the other hand, there are more and more clinical data on the possibility of manifestation of hereditary tubulopathies in young and even old age. One way or another, “adult” nephrologists more and more often began to observe patients with the hereditary tubulopathies described above. However, it should be recognized that most of us (Russian “adult” nephrologists) turned out to be unprepared for the current situation due to insufficient acquaintance with this rather rare, but very interesting pathology. It seems that the following description of clinical observation can to some extent fill this gap.