Autoimmune haematological disorders in two Italian children with Kabuki syndrome.
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.
University of Bari "Aldo Moro", Department of Biomedical Sciences and Human Oncology, Paediatric Hospital, Piazza Giulio Cesare, 11 - 70124 Bari, Italy. paola.giordano@uniba.it.
Paola
P
Giordano
Giuseppe
G
Lassandro
Maria
M
Sangerardi
Maria Felicia
MF
Faienza
Federica
F
Valente
Baldassarre
B
Martire
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D000744:Anemia, Hemolytic, Autoimmune / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D044963:Biopsy, Fine-Needle; D002648:Child; D004247:DNA / Q000032:analysis; D004268:DNA-Binding Proteins / Q000235:genetics / Q000378:metabolism; D003937:Diagnosis, Differential; D004359:Drug Therapy, Combination; D005145:Face / Q000002:abnormalities*; D005260:Female; D005820:Genetic Testing / Q000379:methods*; D005938:Glucocorticoids / Q000627:therapeutic use; D006402:Hematologic Diseases / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D006801:Humans; D016756:Immunoglobulins, Intravenous / Q000627:therapeutic use*; D007155:Immunologic Factors / Q000627:therapeutic use; D008297:Male; D009363:Neoplasm Proteins / Q000235:genetics / Q000378:metabolism; D011239:Prednisolone / Q000627:therapeutic use*; D016553:Purpura, Thrombocytopenic, Idiopathic / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D015837:Vestibular Diseases / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics
D004268:DNA-Binding Proteins; D005938:Glucocorticoids; D016756:Immunoglobulins, Intravenous; D007155:Immunologic Factors; C120898:KMT2D protein, human; D009363:Neoplasm Proteins; D004247:DNA; D011239:Prednisolone