Clinical report of Mediterranean fever in a child in Ukraine – Don’t miss it!
Introduction. Familial Mediterranean fever (FMF) is a non-infectious genetic disease caused by a mutation in the MEFV gene. This disease is more common in people of Mediterranean or Middle Eastern descent, but can occur in any ethnic group, including those living European countries. FMF has typical...
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2024-05-01
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| author | К.Y. Pashenko Т.V. Frolova Y.V. Кarpushenko G.R. Muratov О.М. Savvo Т.О. Khalturina О.М. Ashcheulov |
| author_facet | К.Y. Pashenko Т.V. Frolova Y.V. Кarpushenko G.R. Muratov О.М. Savvo Т.О. Khalturina О.М. Ashcheulov |
| author_sort | К.Y. Pashenko |
| collection | DOAJ |
| description | Introduction. Familial Mediterranean fever (FMF) is a non-infectious genetic disease caused by a mutation in the MEFV gene. This disease is more common in people of Mediterranean or Middle Eastern descent, but can occur in any ethnic group, including those living European countries. FMF has typical clinical symptoms. Its long term without appropriate treatment the disease can lead to a violation of the child's physical development and result in the development of amyloidosis.
The aim is to focus the attention of the medical community of Ukraine and inform European medical specialists on the FMF cases due to migration changes in Ukraine.
This article presents a clinical case of FMF in a 4-year-old child who was admitted to our hospital with complaints of fever, abdominal pain, vomiting, and stool retention. Additional examination included: laboratory tests (complete blood count, urinalysis, biochemical blood test with determination of liver and kidney tests); instrumental methods: ultrasound examination of the abdominal organs and urinary system, X-ray examination of the abdominal organs with contrast. The results of additional tests revealed the signs of inflammatory process and impaired kidney function. When clarifying the family medical history, it was revealed that the older brother suffers from FMF (a mutation of the MEFV genotype was determined) and takes specific therapy (colchicine). The final diagnosis was determined: Acute strangulated intestinal obstruction. Familial Mediterranean Fever (clinically). Peritonitis. Operative laparoscopic and conservative treatment was performed. The patient was discharged in a satisfactory condition with appropriate recommendations.
Conclusions. The number of FMF cases in children have increased due to changes in the migration process in Ukraine. The relevance of this disease has increased. Taking into consideration a significant migration of population, the likelihood of an increase in the number of cases of FMF in European countries is increasing, which requires awareness among a wide range of doctors.In this report we have described a pediatric FMF case which was represented by recurrent episodes of fever, abdominal pain, impaired kidney function test results, and inflammatory markers. A determined mutation of the MEFV genotype in the brother of our patient makes the diagnosis of FMF unquestionable.
The research was carried out in accordance with the principles of the Helsinki Declaration. The informed consent of the patient was obtained for conducting the studies.
No conflict of interests was declared by the authors. |
| format | Article |
| id | doaj-art-1b8c630c07d948cd948b27cfbc62dd31 |
| institution | Kabale University |
| issn | 2663-7553 2706-6134 |
| language | English |
| publishDate | 2024-05-01 |
| publisher | Group of Companies Med Expert, LLC |
| record_format | Article |
| series | Сучасна педіатрія: Україна |
| spelling | doaj-art-1b8c630c07d948cd948b27cfbc62dd312025-01-17T20:27:27ZengGroup of Companies Med Expert, LLCСучасна педіатрія: Україна2663-75532706-61342024-05-014(140)939610.15574/SP.2024.140.93348297Clinical report of Mediterranean fever in a child in Ukraine – Don’t miss it!К.Y. Pashenko0https://orcid.org/0000-0003-3855-6787Т.V. Frolova1https://orcid.org/0000-0002-6861-8902Y.V. Кarpushenko2https://orcid.org/0000-0002-2196-8817G.R. Muratov3О.М. Savvo4https://orcid.org/0000-0002-8584-3749Т.О. Khalturina5О.М. Ashcheulov6https://orcid.org/0000-0001-7454-288XRegional Children’s Clinical Hospital, KharkivKharkiv National Medical UniversityKharkiv National Medical UniversityRegional Children’s Clinical Hospital, KharkivRegional Children’s Clinical Hospital, KharkivRegional Children’s Clinical Hospital, KharkivKharkiv National Medical UniversityIntroduction. Familial Mediterranean fever (FMF) is a non-infectious genetic disease caused by a mutation in the MEFV gene. This disease is more common in people of Mediterranean or Middle Eastern descent, but can occur in any ethnic group, including those living European countries. FMF has typical clinical symptoms. Its long term without appropriate treatment the disease can lead to a violation of the child's physical development and result in the development of amyloidosis. The aim is to focus the attention of the medical community of Ukraine and inform European medical specialists on the FMF cases due to migration changes in Ukraine. This article presents a clinical case of FMF in a 4-year-old child who was admitted to our hospital with complaints of fever, abdominal pain, vomiting, and stool retention. Additional examination included: laboratory tests (complete blood count, urinalysis, biochemical blood test with determination of liver and kidney tests); instrumental methods: ultrasound examination of the abdominal organs and urinary system, X-ray examination of the abdominal organs with contrast. The results of additional tests revealed the signs of inflammatory process and impaired kidney function. When clarifying the family medical history, it was revealed that the older brother suffers from FMF (a mutation of the MEFV genotype was determined) and takes specific therapy (colchicine). The final diagnosis was determined: Acute strangulated intestinal obstruction. Familial Mediterranean Fever (clinically). Peritonitis. Operative laparoscopic and conservative treatment was performed. The patient was discharged in a satisfactory condition with appropriate recommendations. Conclusions. The number of FMF cases in children have increased due to changes in the migration process in Ukraine. The relevance of this disease has increased. Taking into consideration a significant migration of population, the likelihood of an increase in the number of cases of FMF in European countries is increasing, which requires awareness among a wide range of doctors.In this report we have described a pediatric FMF case which was represented by recurrent episodes of fever, abdominal pain, impaired kidney function test results, and inflammatory markers. A determined mutation of the MEFV genotype in the brother of our patient makes the diagnosis of FMF unquestionable. The research was carried out in accordance with the principles of the Helsinki Declaration. The informed consent of the patient was obtained for conducting the studies. No conflict of interests was declared by the authors.http://mpu.med-expert.com.ua/article/view/309809mediterranean feverchildrengene mutation mefv |
| spellingShingle | К.Y. Pashenko Т.V. Frolova Y.V. Кarpushenko G.R. Muratov О.М. Savvo Т.О. Khalturina О.М. Ashcheulov Clinical report of Mediterranean fever in a child in Ukraine – Don’t miss it! Сучасна педіатрія: Україна mediterranean fever children gene mutation mefv |
| title | Clinical report of Mediterranean fever in a child in Ukraine – Don’t miss it! |
| title_full | Clinical report of Mediterranean fever in a child in Ukraine – Don’t miss it! |
| title_fullStr | Clinical report of Mediterranean fever in a child in Ukraine – Don’t miss it! |
| title_full_unstemmed | Clinical report of Mediterranean fever in a child in Ukraine – Don’t miss it! |
| title_short | Clinical report of Mediterranean fever in a child in Ukraine – Don’t miss it! |
| title_sort | clinical report of mediterranean fever in a child in ukraine don t miss it |
| topic | mediterranean fever children gene mutation mefv |
| url | http://mpu.med-expert.com.ua/article/view/309809 |
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