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"Child`s Health" 5 (65) 2015

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Mixed connective tissue disease in the practice of child cardiorheumatology

Authors: Mukvich O.N., Belska O.A,. Petrenko L.B., Ludwik T.A.
State Institution "Institute of Pediatrics, Obstetrics and Gynecology NAMS of Ukraine", Kyiv, Ukraine

Categories: Pediatrics/Neonatology

Sections: Specialist manual

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Mixed connective tissue disease (MCTD) — clinical and immune-relatedsyndrome ofsystemic connective tissue disorders thatmanifests itself througha combination of individual features of scleroderma (SSD), dermatomyositis (DM), systemic lupus erythematosus (SLE), with the onset ofhigh titers of anti-nuclear antibodies, and namely, –solvablenuclear ribonucleoprotein U1 with plenty ofuridine (U1 - RNP). The term MCTDintroducedby G.Sharp and colleagues in 1972, was initiallyviewed as an overlap syndrome of rheumatic diseases. At present, mixed connective tissue disease or Sharp’s syndrome is recognized as independent nosologicalunit, whilelong-term observationin catamnesis proved that it may develop into SLE, SSD or DM.
Extensionof MCTD in Ukraine has not been studied. There is certainconnection with heredity - U1-RNP antibodiesin 66% of patients are associated with HLA-DR4-phenotype.It is supposedthat the developmentof Sharp’s syndrome is caused by the similarity between polypeptide U1-RNP and antigenic determinants of retroviruses, whereby the autoantibodies to the antigens of exogenous retrovirus react with its own ribonucleoprotein ("molecular mimicry").
According to ICD-X MCTDis recognizedin subclass - "systemic disorder of the connective tissue» XII class (M35).
The most commondiagnostic criteria include swelling of the hands, myositis, synovitis, Raynaud’sphenomenon, acrosclerosis.
A diagnosis of the Sharp’s syndrome (according to the criteria of Alarcon-Segovia D., 1995)is based on the results of the clinical and serological features. To avoid any doubts in MCTD diagnosis, a serological marker and three clinical symptoms must be in place andin absence of the serological marker – at least four clinical criteriamust be detected. If three scleroderma symptoms dominate (swelling of the hands, Raynaud’sphenomenon, acrosclerosis), the diagnosis is confirmed with the presence of synovitis and/or myositis.
General principles of treatment and drug therapy for Sharp’ssyndrome are similar to those used forSLE.Givena rare occurrence and a polymorphism of the clinical picture,wepresentbelow our own clinical observation.A girl A., 3 years old, entered a clinicodiagnostic department with her mother complaining aboutan increase in the body temperature up to febrile digits, weight loss (more than 2 kg), pain in joints, limbs, muscles, occasionally bluish tint hands, feet, nasolabial triangle, inability to stand up independently, climb thestairs, get dressed, refusal to walk, constipation, loss of appetite, hair loss. The girl got ill onemonth before hospitalization, when loose stool occurred up to 15-20 times per day, appeared abdominal pain, pain in the legs, loss of appetite. In addition, in 3 weeks there were weakness, swelling of the knee joint, muscle pain, and the child preferred lying down and criedwhen someone triedto pick her up, put on herfeet. During10 days she was treated in a hospital located in herplace of residence with a diagnosis of reactive arthritis, secondary cardiomyopathy, irritable bowel syndrome with constipation. Due to worsening of thehealth condition and inefficiency of the treatment, she was directed toIPAG. 
Considering the complaints, clinical symptoms (expressed intoxication, vessel- Raynaud's syndrome, cutaneous - induration, capillaritis, shine skin, muscle - myositis, articular - acrosclerosis, contractures, synovitis, cardiac, pulmonary syndromes, hepatosplenomegaly), the results of laboratory examination (eosinophilia, increase in AST, CK-MB, anticardiolipin antibodies, the CIC and the level of γ-globulins), and the results of histomorphological study of skin-muscle flap, the clinical diagnosis has detected:mixed connective tissue disease (Sharp's syndrome), the primeperiod, the active phase, the activity of I-II level affected vessels(Raynaud's syndrome), skin (induration, capillaritis), muscles (myositis), joints (contracture,acrosclerosis, synovitis), heart (cardiomyopathy), lungs (pulmonary fibrosis), central nervous system (polyneuropathy), hepatosplenomegaly. 
Apeculiarity of this case lied inthe polymorphism of a clinical picture of autoimmune disease in the absence of antibodies to U1RNP in the infant. Establishing a finaldiagnosis of MDCTwill require a long-term observation and repeated thorough examination of the patient, assometimes MDCTmay developanother rheumatic nosology.

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