PERINATOLOGIYA I PEDIATRIYA.2014.4(60):90–93

A clinical case of familial Mediterranean fever as a manifestation of the primary immunodeficiency in child

T.V. Sorokman¹, N.I. Pidvysotskaya¹, T.V. Dmitruk²

¹Bukovynskyi State Medical University, Chernivtsi, Ukraine

²Regional Children's Hospital, Chernivtsi, Ukraine

Object – to acquainted physicians with diagnostic criteria of the Mediterranean fever and describe individual clinical case.

Materials and methods: the method of genealogical analysis, general clinical, immunological and molecular and genetic examination; medical records.

Results. The described clinical case of the familial Mediterranean fever syndrome demonstrates the clinical manifestations, the need for a multidisciplinary evaluation, diagnosis and continuous monitoring of the disease.

Conclusions. In the diagnosis of familial Mediterranean fever is important to detailed clinical and genealogical study of the patient and his family, because disease diagnosis is primarily clinical. It is necessary to take into account the ethnicity of the patient, while the familial Mediterranean fever is also found in ethnic groups, for which is not typical. Certain base in the diagnosis of this disease may serve molecular and genetic typing of specific MEFV gene mutations, but these genetic studies are not absolute, because the great number of laboratories can determine only the most common and typical mutations. So, the negative result of typing does not exclude the familial Mediterranean fever diagnosis.

Key words: immunodeficiency diseases, familial Mediterranean fever, children

REFERENCES

1. Арутюнян ВМ, Акопян ГС. 2000. Периодическая болезнь (Этиопатогенетические и клинические аспекты). Москва, МИА: 304.

2. Арутюнян ВМ, Акопян ГС. 1997. Современные направления в изучении патогенеза периодической болезни. Клиническая медицина. 12: 14—17.

3. Виноградова ОМ. 1973. Периодическая болезнь. Москва, Медицина: 200.

4. Дранник ГН. 1999. Клиническая иммунология и аллергология. Одесса, Астро Принт: 603.

5. Frenkel J, Kuijk L, Hofhuis W et al. 2007. Anakinra in colchicin resistant Familial Mediterranean Fever. 14^th European Paediatric Rheumatology Congress. Istanbul/Turkey, 5—9 Sept. 2007: 252.

6. Yuksel S, Yalcinskaya F, Acar B et al. 2006. Clinical improvement with infliximab in a child with amyloidosis secondary to familial Mediterranean fever. Rheumatology. 45: 1307—1308.

7. Kalinich T, Haffer D, Niehues T et al. 2007. Colchicine Use in Children and Adolescents With Familial Mediterranean Fever. Pediatr. 119: 474—483. http://dx.doi.org/10.1542/peds.2006-1434; PMid:17242135

8. Livneh A, Langevitz P, Zemer D et al. 1997. Criteria for the diagnosis of familial Mediterranean fever. Arthr Rheum. 40: 1879—1885.

9. Drenth G, van der Meer G. 2001. Hereditary Periodic fever. New Engl J med. 45: 1748—1757.

10. Fietta P. 2004. Autoinflammatory disease: the hereditary periodic fever syndromes. Acta Biol Aten Parmen. 75: 92—99.

11. Lidar M, Livnech А. 2007. Familial Mediterranean fever: clinical, molecular and management advancements. Netherl J Med. 65: 318—324.

12. Ozen S. 2003. Familial mediterranean fever: revisiting an ancient disease. Eur J Pediatr. 162: 449—454.

13. Reimann HA. 1948. Periodic disease A probable syndrome including periodic fever, benign paroxysmal peritonitis, cyclic neutropenia and intermittent arthralgia. JAMA. 136: 239—244.

14. Siegal S. 1945. Benign paroxysmal peritonitis. Ann Int Med. 23,1: 1—21.

15. Simon A, van der Meer J. 2007. Pathogenesis of familial periodic fever syndromes or hereditary inflammatory syndromes. Am J Physiol Regul Integr Comp Physiol. 292: 86—98. http://dx.doi.org/10.1152/ajpregu.00504.2006; PMid:16931648