Cryopyrin-Associated Periodic Syndrome (CAPS) Caused by c.943A>G Variant of NLRP3 Gene: Clinical Case
Background. Cryopyrin-associated periodic syndromes is a group of rare congenital autoinflammatory diseases such as familial cold autoinflammatory syndrome, Muckle-Wells syndrome and chronic infantile neurological cutaneous articular syndrome. These syndromes are considered as clinical variants of o...
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"Paediatrician" Publishers LLC
2019-11-01
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| Series: | Вопросы современной педиатрии |
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| Online Access: | https://vsp.spr-journal.ru/jour/article/view/2202 |
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| author | Ivan A. Kriulin E. I. Alexeeva Tatyana M. Dvoryakovskaya Bella I. Bursagova Kirill V. Savostyanov Natalya V. Zhurkova Alexander A. Pushkov Anatoli V. Anikin Artem M. Nesterov |
| author_facet | Ivan A. Kriulin E. I. Alexeeva Tatyana M. Dvoryakovskaya Bella I. Bursagova Kirill V. Savostyanov Natalya V. Zhurkova Alexander A. Pushkov Anatoli V. Anikin Artem M. Nesterov |
| author_sort | Ivan A. Kriulin |
| collection | DOAJ |
| description | Background. Cryopyrin-associated periodic syndromes is a group of rare congenital autoinflammatory diseases such as familial cold autoinflammatory syndrome, Muckle-Wells syndrome and chronic infantile neurological cutaneous articular syndrome. These syndromes are considered as clinical variants of one disease with different intensity of clinical features and severity of pathologic process. The onset of these syndromes is usually on the first year of life, and they start with fever, urticarial rash, various variants of joint diseases (from arthralgia to residual and persistent arthritis) and nervous system disturbances. There are only single case reports of cryopyrin-associated periodic syndromes in Russia.Clinical Case Description. The disease onset was at the age of 1 year 8 months with fever and rash as well as generalized joint syndrome. Autoinflammatory syndrome was suspected due to to results of blood tests, MRI, molecular genetic testing. Exons 2, 3 and 4 of TNFRSF1A gene and exon 4 of NLRP3 gene with nearby introns were studied with the method of direct automated sequencing. The c.943A>G variant in heterozygous state in NLRP3 gene was revealed. The child was treated with IL-1 beta inhibitor (canakinumab) with positive effect.Conclusion. Diagnostics of cryopyrin-associated periodic syndrome in children is the serious challenge. Timely decision with help of molecular genetic methods is crucial for successful target therapy. |
| format | Article |
| id | doaj-art-e397ef87540c4d9aa58837f5c1376160 |
| institution | Kabale University |
| issn | 1682-5527 1682-5535 |
| language | English |
| publishDate | 2019-11-01 |
| publisher | "Paediatrician" Publishers LLC |
| record_format | Article |
| series | Вопросы современной педиатрии |
| spelling | doaj-art-e397ef87540c4d9aa58837f5c13761602025-08-20T03:34:41Zeng"Paediatrician" Publishers LLCВопросы современной педиатрии1682-55271682-55352019-11-0118427027610.15690/vsp.v18i4.20441828Cryopyrin-Associated Periodic Syndrome (CAPS) Caused by c.943A>G Variant of NLRP3 Gene: Clinical CaseIvan A. Kriulin0E. I. Alexeeva1Tatyana M. Dvoryakovskaya2Bella I. Bursagova3Kirill V. Savostyanov4Natalya V. Zhurkova5Alexander A. Pushkov6Anatoli V. Anikin7Artem M. Nesterov8Sechenov First Moscow State Medical University (Sechenov University)Sechenov First Moscow State Medical University (Sechenov University); National Medical Research Center of Children's HealthSechenov First Moscow State Medical University (Sechenov University); National Medical Research Center of Children's HealthNational Medical Research Center of Children's HealthNational Medical Research Center of Children's HealthNational Medical Research Center of Children's HealthNational Medical Research Center of Children's HealthNational Medical Research Center of Children's HealthNational Medical Research Center of Children's HealthBackground. Cryopyrin-associated periodic syndromes is a group of rare congenital autoinflammatory diseases such as familial cold autoinflammatory syndrome, Muckle-Wells syndrome and chronic infantile neurological cutaneous articular syndrome. These syndromes are considered as clinical variants of one disease with different intensity of clinical features and severity of pathologic process. The onset of these syndromes is usually on the first year of life, and they start with fever, urticarial rash, various variants of joint diseases (from arthralgia to residual and persistent arthritis) and nervous system disturbances. There are only single case reports of cryopyrin-associated periodic syndromes in Russia.Clinical Case Description. The disease onset was at the age of 1 year 8 months with fever and rash as well as generalized joint syndrome. Autoinflammatory syndrome was suspected due to to results of blood tests, MRI, molecular genetic testing. Exons 2, 3 and 4 of TNFRSF1A gene and exon 4 of NLRP3 gene with nearby introns were studied with the method of direct automated sequencing. The c.943A>G variant in heterozygous state in NLRP3 gene was revealed. The child was treated with IL-1 beta inhibitor (canakinumab) with positive effect.Conclusion. Diagnostics of cryopyrin-associated periodic syndrome in children is the serious challenge. Timely decision with help of molecular genetic methods is crucial for successful target therapy.https://vsp.spr-journal.ru/jour/article/view/2202childrenautoinflammatory syndromescryopyrin-associated periodic syndrometnfrsf1a genenlrp3 geneil-1 beta inhibitor canakinumab |
| spellingShingle | Ivan A. Kriulin E. I. Alexeeva Tatyana M. Dvoryakovskaya Bella I. Bursagova Kirill V. Savostyanov Natalya V. Zhurkova Alexander A. Pushkov Anatoli V. Anikin Artem M. Nesterov Cryopyrin-Associated Periodic Syndrome (CAPS) Caused by c.943A>G Variant of NLRP3 Gene: Clinical Case Вопросы современной педиатрии children autoinflammatory syndromes cryopyrin-associated periodic syndrome tnfrsf1a gene nlrp3 gene il-1 beta inhibitor canakinumab |
| title | Cryopyrin-Associated Periodic Syndrome (CAPS) Caused by c.943A>G Variant of NLRP3 Gene: Clinical Case |
| title_full | Cryopyrin-Associated Periodic Syndrome (CAPS) Caused by c.943A>G Variant of NLRP3 Gene: Clinical Case |
| title_fullStr | Cryopyrin-Associated Periodic Syndrome (CAPS) Caused by c.943A>G Variant of NLRP3 Gene: Clinical Case |
| title_full_unstemmed | Cryopyrin-Associated Periodic Syndrome (CAPS) Caused by c.943A>G Variant of NLRP3 Gene: Clinical Case |
| title_short | Cryopyrin-Associated Periodic Syndrome (CAPS) Caused by c.943A>G Variant of NLRP3 Gene: Clinical Case |
| title_sort | cryopyrin associated periodic syndrome caps caused by c 943a g variant of nlrp3 gene clinical case |
| topic | children autoinflammatory syndromes cryopyrin-associated periodic syndrome tnfrsf1a gene nlrp3 gene il-1 beta inhibitor canakinumab |
| url | https://vsp.spr-journal.ru/jour/article/view/2202 |
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