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국훈 대한소아청소년과학회 2006 Clinical and Experimental Pediatrics (CEP) Vol.49 No.8
Giant platelet syndrome is a group of unique disorders characterized by the presence of abnormally large platelets, and usually accompanied by thrombocytopenia. Most cases of giant platelets are encountered in idiopathic thrombocytopenic purpura(ITP). In contrast, inherited giant platelet disorders, a group of heterogeneous diseases, are rare. Bernard-Soulier syndrome and its variants, and MYH9 related diseases have been defined at the molecular level. Abnormalities in transcription factors are implicated in a couple of macrothrombocytopenia syndromes. However, the molecular defects are unknown in gray platelet syndrome. It is important to make a proper diagnosis of congenital macrothrombocytopenia to avoid unnecessary medications and potentially dangerous treatment for presumed ITP.
상염색체 우성유전 거대혈소판증후군 가족의 임상적 특징과 MYH9 유전자의 돌연변이에 관한 연구
국훈,국현,황태주,남호송,백희조,김영옥,엄광현,기해진,조덕,신명근,이제중,김형준 대한혈액학회 2006 Blood Research Vol.41 No.1
Purpose: The autosomal dominant macrothrombocytopenia syndromes are a group of rare disorders, characterized by triads of giant platelets, thrombocytopenia, and Dohle body-like leukocyte inclusions. MYH9, a gene encoding the nonmuscle myosin heavy chain-ⅡA, was known to be a causative gene. This study was aimed to identify Korean patients with giant platelet syndromes and define clinical findings and molecular characteristics on them. Materials and Methods: After taking meticulous family history, peripheral blood smear was examined for platelet size and number, and the presence of leukocyte inclusions. Mutation of MYH9 was studied from mononuclear cells from peripheral blood by direct sequencing of previously known 8 exons (exon 1, 10, 16, 25, 26, 30, 38, 40) after PCR amplification of genomic DNA. Results: Twenty patients with these syndromes from 5 unrelated families were identified (4 of 5 studied from Family Ⅰ; 2 of 4 from Family Ⅱ; 6 of 9 from Family Ⅲ; 6 of 14 from Family IV; 2 of 4 from Family V). The inheritance patterns were autosomal dominant in all families. Giant platelets, greater than red cells on blood smear, were found to be 3.1% (range, 1-11%), and large platelets, greater than half of red cells, being 18.1% (range, 1-40%). The median platelet count was 61,000/μL (range, 4,000 - 280,000/μL). Do¨hle-like inclusion bodies were found in Family Ⅰ, Ⅱ, and Ⅲ. Father in Family V had suffered from chronic renal failure and hearing impairment, while father in Family IV had hearing impairment and proteinuria. Among five families, two families were found to have previously reported mutations. Family I had Arg1933Ter in exon 40, located in tail portion of myosin, while Family IV had Lys373Asn in exon 10, located in the proximal portion of myosin head. The mutations were placed in highly conserved amino acids in mammals and xenopus, and even in human paralog. The mutations are found only in the affected patients, but not in the normal siblings or unrelated families. Conclusion: In this study, the author identified several families with autosomal dominant giant platelet syndromes by through history taking and meticulous search of peripheral blood smears. Two families were identified to have known MYH9 mutations, Arg1933Ter and Lys373Asn. Search for unknown mutations in the remaining families as well as study of protein structural and functional alteration seems to be necessary for the further delineation of these rare genetic disorders.
백희조,국훈,한동규,황태주 대한의학회 2011 Journal of Korean medical science Vol.26 No.12
Aim of this study was to compare the outcomes of transplantation by donor source and to help select the best alternative donor in children with leukemia. Donor sources included matched related donor (MRD, n = 35), allele-matched unrelated donor (M-UD, n = 10) or -mismatched (MM)-UD (n = 13) or unrelated umbilical cord blood (UCB, n = 11). UCB group had a significantly higher incidence of grade II-IV acute graft versus host disease (MRD, 11.8%; M-UD, 30.0%; MM-UD, 15.4%, UCB, 54.4%, P = 0.004) but there was no difference in incidence of chronic graft versus host disease between 4 groups. The 5-yr leukemia-free survival (LFS) was 76.7%, 60.0%, 69.2%, and 45.5%, respectively (P = 0.128). MRD group showed higher LFS rate than UCB group (P = 0.022). However,LFS of M-UD and MM-UD together (65.2%) was not different from that of MRD group (76.7%, P = 0.325), or from that of UCB (45.5%, P = 0.190). The relapse incidence at 5 yr was 17.1%, 20.0%, 15.4%, and 0%, respectively (P = 0.460). The 100-day treatmentrelated mortality was 2.9%, 20.0%, 7.7%, and 36.4%, respectively (P = 0.011). Despite the limitations of small number of patients, unrelated donor transplants including even allele-mismatched ones, seem to be as effective in children with leukemia lacking suitable relative donors. Also, UCB transplant may serve as another possible option in urgent transplants.