INHERITED TUBULOPATHY: MECHANISMS OF PATHOLOGY FORMATION, CLINICAL AND DIFFERENTIAL DIAGNOSTIC SIGNIFICANCE OF SIGNS BASED ON THE PRESENTED CLINICAL CASE
https://doi.org/10.34822/2312-3419-2020-1-80-85
Abstract
The aim of the study is to analyze the mechanisms of formation, the complexity of diagnostics and the coursе of inherited tubulopathy as a rare pathology of the kidneys and to determine the clinical and differential diagnostic significance of its signs on the example of a clinical case. Material and methods. An analysis of case management for inherited tubulopathy is made: pathology of the kidneys (Dent’s disease), with a 14-year-history at the time of diagnostics and a 3-year-follow-up of its course in the patient. Results. The described case of Dent’s disease refers to inherited and/or congenital nephropathies and has a heterogeneous molecular genetic basis for development. The clinical manifestations of the disease are scarce, which complicates the diagnostics and timely treatment from the perspective of the mechanisms for pathology formation. This disease is manifested by polymorphism of laboratory changes in urine and blood and early development of chronic kidney disease. To verify inherited nephropathy, genetic typing of pathognomonic genes is necessary.
About the Authors
L. N. Verizhnikova
Surgut State University, Surgut, Russia.
Russian Federation
Russian Federation
Senior Lecturer, Internal Diseases Department, Medical Institute;
E-mail: x218am@mail.ru
G. G. Gromova
Surgut State University, Surgut, Russia
Russian Federation
Russian Federation
Candidate of Sciences (Medicine), Senior Lecturer, Multidisciplinary Clinical Education Department, Medical Institute;
E-mail: gmvagg@yandex.ru
References
1. Куликова К. С. Клинико-гормональные и молекулярно-генетические характеристики рахитоподобных заболеваний : дис. … канд. мед. наук. М., 2016. 139 с.
2. Клинические рекомендации союза педиатров России. Туболопатии у детей. 2016. 57 с.
3. Blaine J., Chonchol M., Levi M. Renal Control of Calcium, Phosphate, and Magnesium Homeostasis // Clin J Am Soc Nephrol. 2015. No. 10. P. 1257–1272.
4. Клинические рекомендации союза педиатров России. Нефротический синдром у детей. 2014. 31 c.
5. Громова Г. Г., Верижникова Л. Н., Бурмасова А. В, Шувалова О. И. Инфекция мочевой системы у детей и подростков // Вестник СурГУ. Медицина. 2018. № 4 (38). С. 8–12.
6. Пушкарь Д. Ю., Раснер П. И., Куприянов Ю. А., Мальцев Е. Г.,
7. Гуров Е. Ю., Умяров М. С., Сидоренков А. В. Опухоли почек // РМЖ. 2014. № 17. С. 2–6.
8. Корниенко В. Ю., Алябьева Н. М., Вашурина Т. В., Цыгин А. Н., Асанов А. Ю., Пинелис В. Г. Изучение гетерогенности гена NPHS2 у детей со стероидрезистентным нефротическим синдромом // Молодой ученый. 2012. Т. 2, № 1. С. 133–137.
9. Scheinman S. J., Pook M. A., Wooding C., Pang J. T., Frymoyer P. A., Thakker R. V. Mapping the Gene Causing X-linked Recessive Nephrolithiasis to xp11.22 by Linkage Studies // J Clin Invest.1993. No. 91. P. 2351–2357.
10. Приходько Л. С., Папиж С. В., Баширова З. Р., Людвиг М. Являются ли мамы мальчиков с болезнью Дента бессимптомными носителями Х-сцепленной тубулопатии? // Нефрология. 2018. Т. 22, № 2. С. 74–80.
Review
For citations:
Verizhnikova L.N., Gromova G.G. INHERITED TUBULOPATHY: MECHANISMS OF PATHOLOGY FORMATION, CLINICAL AND DIFFERENTIAL DIAGNOSTIC SIGNIFICANCE OF SIGNS BASED ON THE PRESENTED CLINICAL CASE. Vestnik SurGU. Meditsina. 2020;(1 (43)):80-85. (In Russ.) https://doi.org/10.34822/2312-3419-2020-1-80-85
Views:
363
Email this article 
