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RISS 인기검색어
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- 저자 : 나형준(Hyoung Joon Na) (검색결과 2 건)
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Henoch-$Sch\ddot{o}nlein$ Purpura에서 Interleukin $1{\beta}$ 유전자 다형성과 신장 침범과의 연관성
나형준,고일용,윤준호,예병일,김황민,Na, Hyoung-Joon,Go, Il-Yong,Yoon, Joon-Ho,Yeh, Byung-Il,Kim, Hwang-Min 대한소아신장학회 2006 Childhood kidney diseases Vol.10 No.2
Purpose : High interleukin-1 beta(IL-$1{\beta}$) expression in the skin biopsy specimens of patients with Henoch-$Sch\ddot{o}nlein$ Purpura(HSP) has been observed. We examined IL-$1{\beta}$ gene polymorphism in patients with HSP. The purpose of this study is to examine the relationship between IL-$1{\beta}$ gene polymorphism and renal involvement in HSP. Methods : Patients from mideast Korea with HSP were studied. All patients had at least 6 months of follow up. Patients and ethnically matched controls were genotyped for IL-$1{\beta}$ gene polymorphism by polymerase chain reaction-restriction fragment length polymorphism(PCR-RFLP). Results : Thirty-four patients(all younger than 15 years old) who had been diagnosed with HSP and 27 controls were examined. No allele or genotype differences between the HSP and control groups were observed. No significant association between the carriage of IL-$1{\beta}$(-511) T allele and renal involvement(P=0.525, OR:1.417, CI:0.545-3.686) was found. Conclusion : In unselected patients with HSP, carriage of IL-$1{\beta}$(-511) T allele does not appear to influence renal involvement.
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3-Ketothiolase 결핍을 동반한 Partial Trisomy 9P 증후군 1례
나형준(Hyoung Joon Na),임현철(Hyun Chul Lim),임백근(Baek Keun Lim),이해용(Hae Yong Lee),차병호(Byung Ho Cha) 대한소아신경학회 2006 대한소아신경학회지 Vol.14 No.2
저자들은 반복적 구토와 식욕부진을 주소로 내원한 3세 여아에서 염색체 핵형검사 및 소변 유기산 검사를 통해 3-ketothiolase 결핍증을 동반한 partial trisomy 9p를 보인 환아 1례를 경험하였기에 보고하는 바이다. Trisomy 9p syndrome was first described by Rethore et al in 1970 and about 150 cases have been reported. The characteristic features of the partial trisomy 9p syndrome is clearly recognizable faces, which include microcephaly, facial deformities, skeletal and dermatoglyphic anomalies with variable degrees of mental retardation. The 3-ketothiolase deficiency was first described in 1971 and about 30 cases have been reported. The 3-ketothiolase deficeiency is an inborn error of isoleucine and ketone body catabolism that shows autosomal recessive traits, caused by a deficiency of mitochondrial acetoacetyl-coenzyme A thiolase(T2). We report a case of partial trisomy 9p syndrome with 3-ketothiolase deficeiency in a 4-years-old female. The karyotype of the patient was confirmed as 46,XY, add(9)(p23) mat. In the urine organic acid test, 3-ketothiolase deficiency was reported.
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