Complement-Inhibiting Therapy of Atypical Haemolytic Uremic Syndrome in a Patient With Factor H Mutation
Atypical haemolytic uremic syndrome (aHUS) is an extremely rare pathology with the development of complement-mediated thrombotic microangiopathy (TMA). Before eculizumab, a humanized IgG monoclonal antibody to the complement component C5, the prognosis of total and renal survival with aHUS was unfav...
Saved in:
| Main Authors: | , , , , , |
|---|---|
| Format: | Article |
| Language: | Russian |
| Published: |
Union of pediatricians of Russia
2019-02-01
|
| Series: | Педиатрическая фармакология |
| Subjects: | |
| Online Access: | https://www.pedpharma.ru/jour/article/view/1682 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1849243872879706112 |
|---|---|
| author | Irina N. Lupan Alexander Yu. Pischalnikov Hadizha M. Emirova Ekaterina S. Stolyarevich Alexander M. Volyansky Larisa V. Glukhova |
| author_facet | Irina N. Lupan Alexander Yu. Pischalnikov Hadizha M. Emirova Ekaterina S. Stolyarevich Alexander M. Volyansky Larisa V. Glukhova |
| author_sort | Irina N. Lupan |
| collection | DOAJ |
| description | Atypical haemolytic uremic syndrome (aHUS) is an extremely rare pathology with the development of complement-mediated thrombotic microangiopathy (TMA). Before eculizumab, a humanized IgG monoclonal antibody to the complement component C5, the prognosis of total and renal survival with aHUS was unfavourable due to the high probability of death and the development of end-stage chronic renal failure in surviving patients. This article presents a clinical observation of a patient with aHUS who had an identified heterozygous factor H (CFH) mutation — c.3653G>A(p.Cys1218Tyr), and two heterozygous variants of polymorphism in the same gene — c.2016A>G; c.2808G>T. Despite the achievement of haematological remission of TMA against the background of plasma therapy, the child developed dialysis-dependent renal failure. Treatment with eculizumab in a patient with chronic kidney damage provided a significant improvement in their function, maintaining a stable remission and improving the quality of life of the patient with aHUS.Kh. М. Emirova, Е. S. Stolyarevich take part in educational events for doctors as lecturers with the support of Alexion Pharma. The other contributors confirmed the absence of a reportable conflict of interest. |
| format | Article |
| id | doaj-art-fc6b5ba93b4b461ab2e794afaa3e2544 |
| institution | Kabale University |
| issn | 1727-5776 2500-3089 |
| language | Russian |
| publishDate | 2019-02-01 |
| publisher | Union of pediatricians of Russia |
| record_format | Article |
| series | Педиатрическая фармакология |
| spelling | doaj-art-fc6b5ba93b4b461ab2e794afaa3e25442025-08-20T03:59:20ZrusUnion of pediatricians of RussiaПедиатрическая фармакология1727-57762500-30892019-02-0115647047810.15690/pf.v15i6.19841618Complement-Inhibiting Therapy of Atypical Haemolytic Uremic Syndrome in a Patient With Factor H MutationIrina N. Lupan0Alexander Yu. Pischalnikov1Hadizha M. Emirova2Ekaterina S. Stolyarevich3Alexander M. Volyansky4Larisa V. Glukhova5South Ural State Medical University of the Ministry of Healthcare of Russia, Institute for Continuing Professional Education; Children’s City Clinical Hospital No.1; Chelyabinsk Regional Children’s Clinical HospitalSouth Ural State Medical University of the Ministry of Healthcare of Russia, Institute for Continuing Professional Education; Children’s City Clinical Hospital No.1; Chelyabinsk Regional Children’s Clinical HospitalA. I. Yevdokimov Moscow State University of Medicine and Dentistry; St. Vladimir Children’s City Clinical HospitalA. I. Yevdokimov Moscow State University of Medicine and DentistryChelyabinsk Regional Children’s Clinical HospitalChildren’s City Clinical Hospital No.1Atypical haemolytic uremic syndrome (aHUS) is an extremely rare pathology with the development of complement-mediated thrombotic microangiopathy (TMA). Before eculizumab, a humanized IgG monoclonal antibody to the complement component C5, the prognosis of total and renal survival with aHUS was unfavourable due to the high probability of death and the development of end-stage chronic renal failure in surviving patients. This article presents a clinical observation of a patient with aHUS who had an identified heterozygous factor H (CFH) mutation — c.3653G>A(p.Cys1218Tyr), and two heterozygous variants of polymorphism in the same gene — c.2016A>G; c.2808G>T. Despite the achievement of haematological remission of TMA against the background of plasma therapy, the child developed dialysis-dependent renal failure. Treatment with eculizumab in a patient with chronic kidney damage provided a significant improvement in their function, maintaining a stable remission and improving the quality of life of the patient with aHUS.Kh. М. Emirova, Е. S. Stolyarevich take part in educational events for doctors as lecturers with the support of Alexion Pharma. The other contributors confirmed the absence of a reportable conflict of interest.https://www.pedpharma.ru/jour/article/view/1682atypical haemolytic uremic syndromethrombotic microangiopathyplasma therapyeculizumabrenal failuredialysis |
| spellingShingle | Irina N. Lupan Alexander Yu. Pischalnikov Hadizha M. Emirova Ekaterina S. Stolyarevich Alexander M. Volyansky Larisa V. Glukhova Complement-Inhibiting Therapy of Atypical Haemolytic Uremic Syndrome in a Patient With Factor H Mutation Педиатрическая фармакология atypical haemolytic uremic syndrome thrombotic microangiopathy plasma therapy eculizumab renal failure dialysis |
| title | Complement-Inhibiting Therapy of Atypical Haemolytic Uremic Syndrome in a Patient With Factor H Mutation |
| title_full | Complement-Inhibiting Therapy of Atypical Haemolytic Uremic Syndrome in a Patient With Factor H Mutation |
| title_fullStr | Complement-Inhibiting Therapy of Atypical Haemolytic Uremic Syndrome in a Patient With Factor H Mutation |
| title_full_unstemmed | Complement-Inhibiting Therapy of Atypical Haemolytic Uremic Syndrome in a Patient With Factor H Mutation |
| title_short | Complement-Inhibiting Therapy of Atypical Haemolytic Uremic Syndrome in a Patient With Factor H Mutation |
| title_sort | complement inhibiting therapy of atypical haemolytic uremic syndrome in a patient with factor h mutation |
| topic | atypical haemolytic uremic syndrome thrombotic microangiopathy plasma therapy eculizumab renal failure dialysis |
| url | https://www.pedpharma.ru/jour/article/view/1682 |
| work_keys_str_mv | AT irinanlupan complementinhibitingtherapyofatypicalhaemolyticuremicsyndromeinapatientwithfactorhmutation AT alexanderyupischalnikov complementinhibitingtherapyofatypicalhaemolyticuremicsyndromeinapatientwithfactorhmutation AT hadizhamemirova complementinhibitingtherapyofatypicalhaemolyticuremicsyndromeinapatientwithfactorhmutation AT ekaterinasstolyarevich complementinhibitingtherapyofatypicalhaemolyticuremicsyndromeinapatientwithfactorhmutation AT alexandermvolyansky complementinhibitingtherapyofatypicalhaemolyticuremicsyndromeinapatientwithfactorhmutation AT larisavglukhova complementinhibitingtherapyofatypicalhaemolyticuremicsyndromeinapatientwithfactorhmutation |