Primary tubulopathies

• Main Authors: I. M. Osmanov, I. N. Zakharova, O. B. Kolbe, E. B. Mumladze, G. B. Bekmurzaeva, E. V. Tambieva
• Format: Article
• Language: Russian
• Published: Ltd. “The National Academy of Pediatric Science and Innovation” 2018-03-01
• Series: Rossijskij Vestnik Perinatologii i Pediatrii
• Subjects: children; tubulopathies; nephrogenic diabetes insipidus; distal renal tubular acidosis; renal glycosuria; gene avpr2; gene slc4a1; gene slc5a2; diagnostics; treatment
• Online Access: https://www.ped-perinatology.ru/jour/article/view/624
• ISSN: 1027-4065; 2500-2228

The tubulopathies are a group of the diseases varied in the origin, which manifest with the disorder of tubular transport of the organic matters, water or electrolytes. The article presentsthe clinical observations of different variants of the primary tubulopathiesin the children: the nephrogenic diabetesinsipidus(the hemizygous mutation isidentified in gene AVPR2), distalrenal tubular acidosis(SLC4A1 gene mutation is identified) and renal glycosuria. The dynamics of the clinical signs, phases of the diagnostic search and differential diagnostics have been described. The difficultiesin the therapy selection were analyzed for each case; the tactics of the furtherfollow-up was discussed.