서울의 Penicillinase Producing Neisseria Gonorrhoeae 발생빈도(1994)

김재홍,안진균,정성재,김영태,김중환,김시영,이석종,이홍렬,서호석,김경훈,권혁진,정우권,고우석,이용석,안필수,오준규,오용섭 대한화학요법학회 1996 대한화학요법학회지 Vol.14 No.1

Background : In recent years gonorrhoea has been panendemic and remains one of the most common Sexually Transmitted Diseases in the world, especially in developing countries. Objective & Method : For the detection of a more effective therapeutic regimen and assessing the prevalence of Penicillinase Producing Neisseria Gonorrhoeae(PPNG), Ive have been trying to study the patients who have visited the VD Clinic of Choong-Ku Public Health Center in Seoul since 1980 by means of the chromogenic cephalosporin method. Results : In 1994, 168 strains of N. gonorrhoeae were isolated, among which 109 (64,9% ) were PPNG. Conclustion : Our results suggests that the prevalence of PPNG in Seoul is still increasing.

서울의 Penicillinase Producing Neisseria gonorrhoeae 발생빈도(1998)

김재홍,김준호,반재용,이정우,황성주,정준규,정성태,강진문,조흔정,홍창의,정혜신,이한승,김이선,이봉길,이종호,선영우,한기덕,윤성필,이성훈,안종성,박석범,문승현,조항래,김형섭,류지호,황재영,박준홍,손상욱 한양대학교 의과대학 2001 한양의대 학술지 Vol.21 No.1

In recent years, gonorrhea has been pandemic and remains one of the most common STDs in the world, especially in developing countries. For the detection of a more effective therapeutic regimen and assessing the prevalence of Penicillinase Producing Neisseria gonorrhoeae(PPNG), we have been trying to study the patients who have visited the Venereal Disease Clinic of Choong-Ku Public Health Center in Seoul since 1980 by menas of the chromogenic cephalosporin method. In 1998, 93 strians of N. genorrhoeae were isolated, among which 60(64.5%) were PPNG. The prevalence of PPNG in Seoul, which had been decreased to 39% in 1996 after a peak of 74.3% in 1993, is increased to 64.5% in 1998.

TNF-α 유전자형과 방광암과의 관계

정필두,김은정,엄민식,서정원,윤석중,김종석,이상철,김원재 충북대학교 의학연구소 2001 忠北醫大學術誌 Vol.11 No.2

연구목적: TNF-α는 일부 종양의 종양화 과정과 관련이 있는 것으로 알려져 있다. 본 연구는 TNF-α 발현에 영향을 미치는 TNF-α 촉진자 -308 부위의 유전적 다형성이 방광암과 관련이 있는지 유무를 알고자 시행하였다. 대상 및 방법: 유전자 분석을 위하여 환자 113명 및 대조군 109명으로부터 혈액을 채취하여 genomic DNA를 분리한 후 PCR-RFLP 및 direct DNA sequencing을 통하여 TNF-α유전자의 다형성을 조사하여 방광암의 발생, 병기 및 분화도와 비교 검토하였다. 결과: TNF-α 촉진자 -308 부위의 유전형은 대조군에서는 GG형이 83.5%(90례 및 GA형이 16.5%(19례)로 관찰되었으며 AA형은 없었다. 환자군에서는 GG 형이 85.4%(97례), GA형 및 AA형은 각각 13.1%(15례)및 0.8%(1례)에서 관찰되었다. 두 군 모두에서 GG형이 가장 많이 나타났으며 다음으로 GA형을 보이고 AA형은 1례의 방광암 환자에서만 관찰되었다. -308부위의 경우도 두 군 사이에 유전자형의 차이는 없었다(p=0.259) 분화도별 분포를 보면 grade I이 20례, grade II가 49례, grade Ⅲ은 34례였고 병기별로 표재성인 경우가 90례였으며 침윤성은 14례였다. 분화도가 나빠질수록 GA형이 증가하였다(p=0.04). 그러나 병기와 TNF-α promoter -308부위의 유전자형 사이에는 유의한 상관 관계가 없었다(p=0.123). 결론: 방광암 환자의 혈액에서 GA genotype이 관찰되는 경우, 분화도가 나쁠 가능성이 매우 높기 때문에 좀 더 적극적인 치료와 세밀한 추적관찰을 함으로써 방광암으로 인한 사망과 암의 진행을 예방할 수 있을 것으로 기대한다. Purpose : Tumor necrosis factor-alpha (TNF-α) is involved in tumorigenesis of several cancers as an endogenous tumor promoter. The purpose of this study was to investigate whether genetic polymorphism of TNF-α promoter region (-308) was associated with human bladder tumor. Materials and Methods: The DNA from 113 and 109 respective blood samples of bladder tumor Patients and control group was analyzed by PCR-based restriction fragment length polymorphism (RFLP) and direct DNA sequencing methods to characterize the genetic polymorphism of -308 promoter region of the TNF-α gene in bladder tumor patients. We compared the association of bladder tumor with genetic Polymorphism of TNF-α promoter region(-308) in relation to the stage, grade, recurrence and progressio. Results : Eighty-six percents(97/113) of bladder tumor patients and 83.5% (90/109) of control group showed genotype GG at -308 region of TNF-α. Difference in genetic variations of TNF-α promoter (-308) did not exist between bladder tumor patients and control group(p=0.259). Tumor grade was significantly related to the GA genotype (p=0.04). The higher is the grade in bladder tumor, the more frequent was the GA genotype. Tumor stage, recurrence and progression were not significantly associated with genetic polymorphism of TNF-α promoter region (-308). Conclusion: The GA genotype of TNF-a promoter region (-308) had a significant impact on TNF-α production and was related to higher grade tumor compared to GG genotype. TNF-α serum levels in bladder tumor patients were significantly higher than controls. These data suggested that TNF-α might involve the tumorigenesis of the bladder rather than treatment or prevention of bladder tumor.

혈액 투석 환자에서 중심정맥 협착에 대한 스텐트 삽입술 : Wallstent Placement

임대승,노상필,이유선,정승현,김보영,이정우,강정아,김정희,이민수,정준용,최시완,정진옥,성인환,이강욱,신영태 충남대학교 의과대학 의학연구소 2002 충남의대잡지 Vol.29 No.1

Stenosis of central vein is a common complication arising after percutaneous subclavian vein catheter insertion performed for temporary vascular access in chronic renal failure patients undergoing hemodialysis. There are several treatment methods for the condition like percutaneous angioplasty(PTA), stent insertion, and surgery, but recent trend is toward PTA and stents. Among the patients diagnosed with chronic renal failure from March 1993 to May 2002 and undergoing hemodialysis through AV fistula, the 14 Patients in whom central vein stenosis arose were selected for the study. A total of 28 percutaneous interventions(5 PTA and 23 stent placement) were performed, and restenosis rate and the time taken till the restenosis in de novo lesions and instant lesions were compared. All 28 cases were operated successfully. The 14 cases that received both anigioplasty and stent placement initially. (de novo lesion : 14 cases), Among the 10 cases with de novo lesion that followed up more than 1 year, 3 cases are currently undergoing hemodialysis without restenosis, and the remaining 7 cases have recurred stenosis with the mean time to restenosis of 10.9 months. In the 7 cases in whom stenosis recurred, 11 interventions were done(instent lesion: 11 cases). 4 of these were using only ballon angioplasty with 100% restenosis rate and the mean time of 3 months until restenosis. The remaining 7 cases were using both balloon angioplasty and stent placement, also with 100% restenosis rate but with the mean time of 12 months until restenosis, which was later than the group receiving only balloon angioplasty. In treating the patients with central vein stenosis, stent placement seems to be more advantageous over PTA in terms of restenosis rate and the mean duration of patency. In the case of instent lesion, inserting the stent for the second time after stenosis recurred lengthened the duration of patency compared to performing balloon angioplasty alone.

돈지, 들깨유 및 달맞이꽃 종자유의 혼합급이가 흰쥐의 혈청 지질 성분에 미치는 영향

김성희,김한수,강정옥,박필숙,정승용 慶尙大學校 1992 論文集 Vol.31 No.2

돈지 및 들깨유와 달맞이꽃 종자유등 2종 식물 종자유아의 혼합비율을 달리한 유지의 급이가 흰쥐의 혈청 지질성분에 미치는 영향을 구명하기 위해 S·D계 숫쥐에게 돈지 2.5% 및 들깨유와 달맞이꽃 종자유의 혼합비율을 달리하여 4주간 급이 사육한 후 혈청의 지질 성분을 분석 검토한 결과는 다음과 같다. 혈청의 총콜레스테롤 농도는 대조군(A군 돈지10%)에 비해 B군(들깨유7.5%+돈지2.5%)이 유의적으로 낮았으며, HDL-콜레스테롤 농도는 대조군에 비해 C군(들깨유 5.0%+달맞이꽃 종자유2.5%+돈자2.5%), D군(들깨유 2.5%+달맞이꽃 종자유5.0%+돈지2.5%)및 E군(달맞이꽃 종자유7.5%+돈자2.5%)이 높았고, 총콜레스테롤에 대한 HDL-콜레스테롤의 농도비는 대조군에 비해 E군이 현저하게 높았다. 콜레스테롤를 급이군은 콜레스테롤 무급이군에 비해 전 군에 걸쳐 총콜레스테롤 농도는 월등히 높았고 HDL-콜레스테롤 농도는 낮았다. 콜레스테롤 에스테르의 농도는 대조군에 비해 B및 C군은 낮은 반면, D및 E군은 높았고 콜레스테롤 급이군에 비해서는 대조군에 비해 전군이 유의적으로 낮았다. LDL및 LDL-콜레스테롤 농도는 대조군에 비해 전 군이 유의적으로 낮았으며 B군은 특히 현저하게 낮은 경향을 나타내었고, 또한 콜레스테롤 급이군은 콜레스테롤를 무급이군과 유사한 경향을 보였으나 전반적으로 월등하게 높았다. 인지질 및 중성지질의 농도는 대조군에 비해 전 군이 유의적으로 낮게 나타났고, 콜레스테롤 급이군의 혈청 중 인지질 및 중성지질의 농도는 콜레스테롤 무급이군고 유사한 경향이였으나 전반적으로 보아 현저하게 낮았다. In order to observe the effects of the feeds mixed with the lard and two vegetable seeds oils on lipid components of serum in rats, the oils mixed with 2.5% lard and various level of perilla oil and evening primrose oil were administered to the male rats of the S.D. for 4 weeks. Total cholesterol concentrations of serum were significantly lower in the B group(perilla oil 7.5%+ lard 2.5%) than in the control group(A group ,lard 10%). HDL-cho-lesterol concentrations in serum were higher in the C(perilla oil 5.0%+evening primrose oil 2.5%+lard 2.5%), D(perilla oil 2.5%+evening primrose oil 5.0%+lard 2.5%) and E(evening primrose oil 7.5%+lard 2.5%) groups than in the control group. In the supplemeted cholesterol groups(SC groups), total cholesterol concentrations in serum were by far higher and HDL-cholesterol concentrations in serum were lower than in the nonsupplemented cholesterol groups(NSC groups). Cholesteryl ester concentrations in serum were lower in the B and C groups, but higher in the D and E groups than in the control group. In the SC groups, cholesteryl ester concentrations in serum were significantly lower in the other groups than in the control group. concentrations of LDL-cholesterol in serum were lower in the other groups and remarkably in SC groups were similar to the NSC groups, but those of serum were by far higher in all groups. Concentrations of phospholipid and triglyceride in serum were significantly lower in the other groups than in the control group, in the SC groups, concentrations of phospholipid and triglyceride were similar to the NSC groups, but those from serum were remarkably lower in all groups.

관상동맥 질환에서 SDF-1α의 농도

김보영,박용규,박형서,노상필,정승현,이유선,이정우,이재환,최시완,정진옥,성인환 충남대학교 의과대학 의학연구소 2003 충남의대잡지 Vol.30 No.1

Atherosclerosis is now viewed as an inflammatory disease of the vascular system. Expression of several chemokines, including monocyte chemoattractant protein(MCP)-1, MCP-4, RANTES(regulated on activation normal T-cell expressed and secreted), and interleukin-8(IL-8) are increased in human atherosclerotic plaques compared with normal vessels. They are involved in the pathogenesis of atherosclerosis and plaque rupture by activating and directing leukocytes into the atherosclerotic lesions. However, some are involved in homeostatic functions such as normal leukocyte traffic and growth regulation. SDF-la is a multi-functional cytokine that is involved in myelogenesis, hematopoiesis, angiogenesis and injured gastric mucosal regeneration in the gastric ulcer patient. SDF-la is recently shown to be highly expressed in atherosclerotic plaques and a potent platelet agonist. At least in high concentrations, SDF-la may mediate antiinflammatory and matrix stabilizing effects in unstable angina. Many studies are going on to know the function of SDF-la in coronary artery diseases. I investigated the difference of the plasma level of SDF-la between control group and coronary artery disease group. Total 75 subjects were enrolled. The diagnosis of coronary artery disease was confirmed in all patients by coronary angiography. Control subjects in this study were confirmed normal by coronary angiography. Clinical profile and risk factors were also reviewed. Control subjects in this study were 27 (M=10, F=17). Plasma for the study was collected before the angiography and centrifuged. SDF-la analysis was performed by ELISA. Plasma level of SDF-la is significantly increased in patients with stable angina(n=20) and unstable angina group(n=28) compared with healthy control group(n=27). the risk factors do not influence the plasma level of SDF-la in coronary artery diseases. In this study, plasma level of SDF-la is increased in patients with stable angina and unstable angina groups compared with healthy control group(P<0.05). the risk factors do not influence the plasma level of SDF-la in coronary artery diseases.

Erythromycin 내성 포도알균의 유도형 Macrolide-Lincosamide-Streptogramin B (MLS_(B)) 내성 표현형 빈도

김경희,박순호,박필환,안정열,서일혜 대한감염학회 2010 감염과 화학요법 Vol.42 No.3

Background: Inducible MLS_(B) (macrolide-lincosamide-streptogramin B) resistance in staphylococci is not detected by standard susceptibility test methods. Failure to identify inducible MLS_(B) resistance may lead to clinical failure during clindamycin therapy. We determined the prevalence of inducible MLS_(B) resistance in erythromycin-resistant staphylococcal isolates. Materials and Methods: We evaluated all 2,792 non-duplicate staphylococcal strains: 1,402 Staphylococcus aureus and 1,390 coagulase-negative staphylococci (CoNS) isolated from May 2008-June 2009 at one-unoversity hospital. Testing for inducible MLS_(B) was accomplished by the disk approximation test (D-test) in accordance with the recommendations of the Clinical and Laboratory Standards Institute (CLSI). Results: Of the 2,792 staphylococcal isolates, 892 S. aureus isolates and 740 CoNS isolates were resistant to erythromycin. Among the 892 erythromycin-resistant S. aureus isolates, the overall prevalence of inducible MLS_(B) was 21.3% (16.2% of MRSA and 76.3% of methicillin-susceptible S. aureus). Among the 740 erythromycinresistant CoNS isolates, the overall prevalence of inducible MLS_(B) was 16.5% (16.0% of methicillin-resistant CoNS and 18.7% of methicillin-susceptible CoNS). The D-test was positive in 88.8% of S. aureus and 28.4% of CoNS isolates, which were erythromycin-resistant and clindamycin-susceptible. Conclusions: There are some variations in the prevalence of inducible MLS_(B) resistance in clinical staphylococcal isolates. It is important that clinical laboratories report inducible MLS_(B) resistance for erythromycin-resistant and clindamycinsusceptible staphylococcal isolates.

OGGI 유전자의 다형성이 방광암에 미치는 영향

김은정,정필두,정춘구,서정원,윤석중,김원재 충북대학교 의학연구소 2001 忠北醫大學術誌 Vol.11 No.2

연구목적 : 손상된 유전자의 회복은 암의 발생 및 예방에 중요한 역할을 한다. 잘못된 염기의 제거 및 회복에 중요한 역할을 하는 OGGI 유전자의 다형성이 방광암에 어떠한 작용을 하는지를 환자-대조군 연구를 통해서 조사하였다. 대상 및 방법: 방광암 환자 168명과 건강인 672명을 대조군으로 하여 genomic DNA를 이용하여 SSCP (single-stranded conformational polymorphism), direct DNA sequencing 및 restriction fragment length polymorphism (RFLP) 방법을 통해 환자 및 대조군사이의 OGGI 유전자의 다형성을 조사하였다. 결과: 건강 한국인에서 OGGI 유전자의 유전형을 조사한 결과 econ 6의 Pro324Pro 부위(lb type)와 exon 7의 Ser326Cys 부위 (la type)에 유전자의 다형성이 있음을 발견하였다. Codon 324는 silent polymorphic site였으나 codon 326은 C→G로 nucleotide가 바뀌어 amino acid가 serine→cysteine으로 바뀌는 polymorphic site였다. 대조군에서 codon 326은 Ser326Ser 형이 127례 (18.9%), Ser326Cys 형이 363례 (54.0%) 및 Cys326Cys 형이 182례 (27.1%)이었으며, 168명의 방광암 환자군에서는 Ser326Ser 형이 44례 (26.2%), Ser326Cys 형이 87례 (51.8%)이고 0ys3260ys 형이 37례 (22.0%) 이었다(p=0.034) 즉 Cys326Cys 형 및 Ser326cys 형에 비하여 Ser326Ser 형에서 방광암이 생길 확율이 1.52배 (95% CI=0.439-0.969) 높았다 특히 40세 미만의 남자의 경우 Ser326Ser 형에서 방광암 발생확률이 다른 유전형에 비하여 6.1배 높았다. 결론: OGGI 유전자의 유전형은 서구인과 판이하게 달랐으며 방광암에서는 이 유전자의 변이가 빈번할 뿐아니라 codon 326의 Ser326Ser 형에서는 다른 유전자형에 비하여 방광암이 발생할 확률이 1.5배 이상 높았다. 특히 한국인 40세 미만의 남자에서는 방광암 발생확률이 6배이상 높았다. 본 연구결과 OGGI codon 326의 유전적 다형성은 방광암의 종양화 과정과 관계가 있을 것으로 여겨지며 특히 40세 미만의 한국 남자의 경우는 더욱 밀접한 관계가 있을 것으로 사료된다. Purpose: A repair of damaged DNA has been shown to be involved in the susceptibility to cancer development and prevention. Therefore, it is worth investigating genetic polymorphisms of the OGGl gene associated with the gene repair mechanism. In this study, we examined a possible association of genetic ploymorphisms in OGGl with the risk of bladder tumor. Materials and Methods: Hospital based, case-control investigation was carried out in 168 primary bladder tumor patients and 672 control subjects. We performed the SSCP, PCR-based restriction fragment length polymorphism (RFLP) and direct DNA sequencing to characterize the genetic polymorphism of OGGI in both cases and oontrols. Results: We found two polymorphic sites in OGGl. A Ser/Cys polymorphism at codon 326 (la type) in exon 7 was associated with an exchange of amino acid. Another polymorphic site at codon 324 (1b type) in econ 6 was silent. The association between codon 326 Polymorphism and the risk of the bladder tumor was examined by a age-sex adjusted analysis. We found that the distribution of OGGl Ser326Cys genotypes of controls(Ser/Ser, 18.9% ; Ser/Cys, 54.0% ; Cys/Cys, 27.1%) was significantly different from that of bladder tumor patients (36.2%, 51.8% and 22.0%, respectively) (p = 0.034, adjusted OR = 0.652, 95% Cl = 0.44 - 0.97). Especially, bladder tumor risk in Korean male under 40 years old was approximately 6 times higher than over 40 years old males. Conclusion : Our data suggested that Ser326cys polymorphism at codon 326 of OGGl male below 40 years old in Korea significantly increased the risk of tumorigenesis in the urinary bladder (p = 0.015, adjusted OR = 0.165, 95% CI = 0.04 - 0.75) Our results suggest that the OGGl Ser326Cys Polymorphism might play a role in the tumorigenesis of the bladder.

응급실 내원시 예상치 못한 사망 환자의 예측 인자

김욱진,서정필,정성필,황태식,이한식 대한응급의학회 1998 대한응급의학회지 Vol.9 No.4

Background: Unexpected deaths of the patients at ED are surprising to the medical staffs as well as the families. It may also increase the possibilities of medico-legal problems. This study was conducted to review the unexpected death in ED and find the predictive factors leading patients to unexpected death. Methods: A retrospective study with reviewing available medical records of 183 patients who were expired at Ed of Shinchon Severance Hospital from Mar. 1997 to Feb. 1998 and 103 patients of Youngdong Severance Hospital from Mar. 1996 to Feb. 1998 was done. Analyses were done on 30 variables of physical findings, laboratory results, procedures and therapies. We used univariate analysis such as t-test and x²-test and multiple logistic regression analysis. Results: Of the total 286 deaths in Ed, 153 cases were enrolled in this analysis. The number of unexpected deaths were 76. Age, mental status, fraction of neutrophil count, BUN level, whether endotracheal intubation was done, use of inotropics were the factors with statistical significance on the univariate analysis, but only comatose mentality, endotracheal intubated case, and use of the inotropics were significant on logistic regression analysis. The longer the ED length of stay, the higher the rate of mortality and unexpected death. Conclusion: This result suggest that medical attention is needed on the patients with comatose decreased mental status, endotracheally intubated case and needing inotropic agents to prevent unexpected deaths shortening the ED length of stay may also be a factor for decrease the unexpected death rate.

소아 동종 조혈모세포이식 200예의 분석 : Single Center Study

김학기,조빈,정낙균,정대철,장필상,김선영,김춘추 대한조혈모세포이식학회 2002 대한조혈모세포이식학회지 Vol.7 No.1

연구배경: 1983년 11월부터 2000년 9월까지 시행한 동종 조혈모세포이식의 성적을 분석하여 소아 골수이식의 발전 방향을 모색하고자 하였다. 방법: 1983년 11월부터 2000년 9월까지 가톨릭의대 조혈모세포이식센터, 성모병원 소아과에서 동종 조혈모세포이식을 시행한 200예를 대상으로 조혈모세포이식의 유형 및 대상질환, 이식 당시의 상태 및 전처치에 따른 치료 성적을 후향적으로 분석하였다. 결과: 200예 중 HLA-일치 형제간 골수이식이 146예(73%), HLA-일치 형제간 골수이식 이외의 이식이 54예(27%)였다. 1) HLA-일치 형제간 골수이식: 146예 중 남아와 여아가 각각 78명과 68명이었으며 SAA 50예의 5년 무병 생존율은 95.8±2.9%였고 AML 45예의 5년 무병 생존율은 71.7±7.0%로 일차 및 이차 관해기에 이식 받은 40예와 5예의 5년 무병 생존율은 각각 73.6±7.2%와 60.0±21.9%였다. AML에서 전처치로 Bu/Cy를 사용한 28예와 TBI/Cy를 사용하였던 9예의 5년 무병 생존율은 각각 81.9±7.4%와 33.3±15.7%였으며 Bu/Cu/TBI를 시행한 8예의 무병 생존율은 80.0±17.9%였다. ALL 33예의 5년 이상 무병 생존율은 75.5±7.5%였고 일차 및 이차 관해기에 이식을 시행하였던 18예와 14예의 무병 생존율은 각각 83.0±9.0%와 71.4±12.1%였다. CML 및 MDS 11예의 5년 무병 생존율은 72.7±13.4%였다. 기타 질환으로는 Fanconi 빈혈 2예, 혈구탐식성 조직구증식증 2예, 순적혈구 빈혈 2예, Kostmann 증후군이 1예로 이들의 전체 무병 생존율은 85.7±13.2%였다. 2) HLA-일치 형제간 골수이식 이외의 이식을 시행하였던 54예의 3년 이상 무병 생존율은 45.3±11.6%였으며 HLA-일치 UBMT 26예, CBSCT 15예, 형제 이외의 혈연에 의한 골수이식이 13예로 이들의 무병 생존율은 각각 56.2±10.8%, 58.2±13.1%, 35.9±17.3%였다. 결론: 소아 난치성 혈액질환의 완치요법으로 동종 골수이식의 치료효과를 확인할 수 있었으며, 동종 조혈모세포의 공여원으로 비혈연간 골수나 제대혈의 이용이 점차 증가하고 있음을 알 수 있었다. Background: Bone marrow transplantation was first introduced to Korean children in 1983. Since then the number of children receiving transplants has increased steadily. Methods: We analyzed two hundred pediatric cases of allogeneic hematopoietic stem cell transplantation between Nov. 1983 and Sep. 2000 in Catholic Hematopoietic Stem Cell Transplantation Center of Korea. Results: HLA-matched sibling transplantations were performed in 146 cases (78 males, 68 females, median age; 10 years) with median follow-up of 47 months. The 3-year estimated event-free survival (EFS) of ALL and AML was 76% and 72% respectively. The 5-year estimated EFS of severe aplastic anemia and CML/MDS was 96% and 73% respectively. The 2-year estimated EFS of nonmalignant rare disease was 86%. Twenty-six children underwent unrelated bone marrow transplantation (UBMT), 15 cord blood stem cell transplanta-tion (CBSCT) and 13 familial haploidentical transplantation (FHT). There were 35 males and 19 females with a median age of 6.5 years and median follow-up of 18.5 months. The estimated 2-year EFS of UBMT, CBSCT and FHT were 56%, 58% and 34% respectively. Conclusion: HLA-matched sibling allogeneic BMT showed better survival in children with hematopoietic stem cell disorder compared to UBMT and CBSCT. Recently, transplants using alternative stem cell source are increasing due to lack of suitable matched sibling donor and continuous efforts for reducing transplant-related complications are warranted for improving survival.