Abstract
Kabuki syndrome (also called Niikawa-Kuroki syndrome) is a rare genetic disease described for the first time in Japan, characterised by anomalies in multiple organ systems and often associated with autoimmune disorders and impaired immune response. We herein report the clinical history, the therapeutic approach and the outcome of two children with Kabuki syndrome who developed autoimmune haematological disorders (haemolytic anaemia and immune thrombocytopenia). Factors regarding differential diagnosis and interventions in better management of this syndrome and its complications are discussed. This is the first report of Italian children with autoimmune haematological disorders complicating Kabuki syndrome.
MeSH terms
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Abnormalities, Multiple / diagnosis*
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Abnormalities, Multiple / drug therapy
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Abnormalities, Multiple / genetics
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Anemia, Hemolytic, Autoimmune / diagnosis*
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Anemia, Hemolytic, Autoimmune / drug therapy
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Anemia, Hemolytic, Autoimmune / genetics
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Biopsy, Fine-Needle
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Child
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DNA / analysis
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DNA-Binding Proteins / genetics
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DNA-Binding Proteins / metabolism
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Diagnosis, Differential
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Drug Therapy, Combination
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Face / abnormalities*
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Female
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Genetic Testing / methods*
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Glucocorticoids / therapeutic use
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Hematologic Diseases / diagnosis*
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Hematologic Diseases / drug therapy
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Hematologic Diseases / genetics
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Humans
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Immunoglobulins, Intravenous / therapeutic use*
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Immunologic Factors / therapeutic use
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Male
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Neoplasm Proteins / genetics
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Neoplasm Proteins / metabolism
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Prednisolone / therapeutic use*
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Purpura, Thrombocytopenic, Idiopathic / diagnosis*
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Purpura, Thrombocytopenic, Idiopathic / drug therapy
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Purpura, Thrombocytopenic, Idiopathic / genetics
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Vestibular Diseases / diagnosis*
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Vestibular Diseases / drug therapy
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Vestibular Diseases / genetics
Substances
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DNA-Binding Proteins
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Glucocorticoids
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Immunoglobulins, Intravenous
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Immunologic Factors
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KMT2D protein, human
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Neoplasm Proteins
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DNA
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Prednisolone