The clinical observation of patients with family steroid-resistant nephrotic syndrome (NPHS2 mutation): the features of the course and therapy of the disease are described


DOI: https://dx.doi.org/10.18565/therapy.2019.6.166-170

Grigorieva E.V., Vorobyova O.A., Zyryanova A.S.

1) V.I. Razumovsky Saratov State medical University of the Ministry of Healthcare of Russia; 2) National center for clinical morphological diagnostics LTD
Despite the successes achieved in nephrotic syndrome treatment by immunosuppressive therapy use, you can meet in medical practice the forms of it, which are resistant to this method of treatment. Article describes the cases of nephrotic syndrome due to genetic mutation and anomaly of the structure of the kidney filtration barrier.
In connection with the revealed steroid resistance during treatment, the attending physician faces a difficult task - to find the possible reason for the steroid-resistant course of the disease, select the optimal conservative therapy with a minimum of side effects and delay the development of the terminal stage of kidney disease requiring renal replacement therapy.
Keywords: NPHS2 mutation, steroid-resistant nephrotic syndrome
Read entire article

Literature


  1. Баранов А.А., Намазова-Баранова А.А., Цыгин А.Н. и др. Клинические рекомендации союза педиатров России. Нефротический синдром у детей. 2016: 1–31.

  2. Приходина Л.С. Клинико-генетическая гетерогенность cтероидорезистентного нефротического синдрома у детей. Нефрология и диализ. 2014; 16(2): 236–254.

  3. Петросян Э.К. Врожденный нефротический синдром: этиология, диагностика, лечение. Вестник современной клинической медицины. 2013; 6(6): 71–72.

  4. Ruf R.G., Lichtenberger A., Karle S.M. et al. Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome. J. Am. Soc. Nephrol. 2004; 15: 722–32.

  5. Santin S., Tazon-Vega B., Silva I. Clinical value of NPHS2 analysis in early- and adult-onset steroid-resistant nephrotic syndrome. Clin. J. Am. Soc. Nephrol. 2011; 6: 344–54.


About the Autors

Elena V. Grigorieva, PhD, associate professor of the Department of hospital therapy of V.I. Razumovsky Saratov State medical University of the Ministry of Healthcare of Russia. Address: 410012, Saratov, 112 Bolshaya Kazachja Str. Tel.: +7 (8452) 49-14-37. E-mail: lek133@yandex.ru
Olga A. Vorobyova, PhD, anatomopathologist of the National center for clinical morphological diagnostics LLC. Address: 192283, St. Petersburg, 8/2 Oleko Dundichа Str. Tel.: +7 (921) 992-72-45. Email: olvorob70@gmail.com
Aksinya S. Zyryanova, attending physician of the Department of hospital tlherapy of V.I. Razumovsky Saratov State medical University of the Ministry of Healthcare of Russia. Address: 410012, Saratov, 112 Bolshaya Kazachja Str. Tel.: +7 (962) 624-85-89. E-mail: freya.arwen93@yandex.ru

Back to Content

Бионика Медиа