ARC(Arthrogryposis, Renal Tubular Dysfunction, Cholestasis) 증후군의 발병양상에 관한 연구

이순민,김지홍,이재승,한석주,Lee Soon Min,Kim Ji Hong,Lee Jae Seung,Han Suk Joo 대한소아신장학회 2005 Childhood kidney diseases Vol.9 No.2

목 적 : ARC 증후군은 관절구축, 신세뇨관 장애 및 담즙 정체의 동반으로 진단되며, 윈인 유전자(VPS33B)가 확인 된 선천성 질환으로, 전세계적으로 41례 정도가 보고되었고, 국내 보고는 거의 없는 매우 드문 질환이다. 저자들은 신세뇨관 기능부전을 중심으로 7례의 ARC 증후군의 임상 경과를 고찰하여 본질환의 진단에 도움이 되고자 하였다. 방 법 : 1995년 3월부터 2005년 8월까지 세브란스병원에 내원한 임상적 진단기준을 만족하는 7례의 ARC 증후군을 대상으로 후향적 조사를 시행하였다. 결 과 : 대상 환아 남, 녀 비는 4:3이었으며, 출생당시 정상체중아가 6례(85$\%$), 미숙아는 1례(14$\%$)였다. 7례 모두 심한 황달을 동반하는 담즙 정체를 보였으며, Brown 등에 의한 관절구축의 분류 기준상 type III 2례, type IV 2례 type VI 1례, type VII 2례, 미분류 1례(14$\%$)였다. 기타 임상양상은 성장장애 6례(85$\%$), 늘어지고 거친 피부 5례(71$\%$), 거대혈소판 4례(57$\%$), 청력장애 2례(29$\%$)였다. 소변 검사상 단백뇨 6례(85$\%$), 혈뇨 3례(43$\%$), 당뇨 5례(71$\%$), 인산뇨 2례(29$\%$), 칼슘뇨 2례(29$\%$)였다. 전해질 검사상 저나트륨혈증 4례(57$\%$), 저칼륨혈증 3례(43$\%$)였고, 혈중 크레아틴치 상승은 1례(14$\%$)에서 관찰되었다. 신세뇨관 기능부전은 신세뇨관 산증 6례(85$\%$), 신성 요붕증 2례(29$\%$), 판코니 증후군 2례(29$\%$)로 나타났다. 치료는 단순관찰 2례(29$\%$), 지속적 전해질 보충 및 산증 교정 5례(85$\%$), 신대체요법 1례(14$\%$)였다. 가계도 분석에서 가계내 발병은 1례에서만 확인되었다. 추적관찰 결과 사망 4례(57$\%$), 생존 2례(29$\%$), 추적관찰 중단 1례(14$\%$)로 사망 환아는 평균 8.1개월에 사망하였으며, 생존 환아의 평균연령은 11.8개월이었다. 결 론 : 전세계적으로 드물게 보고되고 있는 ARC 증후군은 다양한 양상의 신세뇨관 기능 부전을 동반하고 있으나, 본 연구에서는 신세뇨관 기능 손상 정도가 상대적으로 미약하며, 생존 기간도 높은 경향을 나타내었다. 또한 국외 보고와는 달리 대상 환아의 가계 내 동일질환의 발생례가 적어 산발적인 유전자 돌연변이에 의한 발병 가능성도 있으나, 예후가 극히 불량한 본 질환의 철저한 차단을 위하여 무엇보다도 환자 발생 가계 내에서의 정확한 산전 유전자 진단이 요구되는 바이다. Purpose : ARC syndrome refers to an association of arthrogryposis, renal tubular dysfunction, and cholestasis. The VPS33B gene was recently identified as the causative gene. So far, 41 cases of ARC syndrome have been reported worldwide, and it has rarely been reported in Korea. This study was conducted to report the clinical findings of seven ARC syndrome cases in Korean children, focusing especially on renal tubular dysfunction. Methods : The hospital records of 7 cases diagnosed as ARC syndrome at Severance Hospital between Mar. 1995 and Aug. 2005 were reviewed and analyzed. Results : Of the 7 cases, 4 were boys and 3 were girls. Six patients(85$\%$) were born with normal birth weight at term, and one was born at preterm. All cases presented with cholestasis and severe jaundice. According to the type of arthrogryposis described by Brown et al, type 3 and 4 were found in 2 patients and type,6, 7, and the undistributed type in one patient respectively. Other associated clinical findings were as follows : failure to thrive in 6(85$\%$), lax skin in 5(71$\%$), and gray platelet syndrome in 4(57$\%$). Urine analysis revealed 6 cases(85$\%$) with proteinuria, 3(43$\%$) with hematuria, 5(71$\%$) with glycosuria, 2(29$\%$) with phosphaturia and 2(29$\%$) with calciuria. Serum electrolytes showed 4 cases(57$\%$) with hyponatremia, 3(43$\%$) with hypokalemia, and 1(14$\%$) with creatinine elevation. Renal tubular dysfunctions were diagnosed as renal tubular acidosis in 6 cases(85$\%$), nephrogenic diabetes insipidus in 2(29$\%$), and Fanconi syndrome in 2(29$\%$). During the follow-up period, 2(29$\%$) had no treatment, 5(85$\%$) had continuous supplementation to correct the electrolyte imbalance and acidosis, and 1(14$\%$) had dialysis. Only one patient had a family history of ARE syndrome in a sibling. Four cases(57$\%$) were diagnosed at the mean age of 8.2 months, and one case was lost during follow-up. Ages of the survived 2 cases were 13 and 25 months, respectively. Conclusion : The rare disease of ARC syndrome Is associated with severe renal dysfunction. However, this study revealed that the renal manifestation of ARC syndrome in Korean children is relatively mild and survival rate is higher than that of previous studies. Contrary to previous reports, this study showed that familial cases are rare and sporadic occurence is possible in Korea. Thus, the diagnosis of this syndrome requires a careful evaluation of the venal function in cases of congenital arthrogryposis, and a mandatory genetic counseling of affected family for prevention of familial occurance. (J Korean Soc Pediatr Nephrol 2005;9:222-230)

Peritonsillar Abscess in a 40-Day-Old Infant

이순민,권병철,최성연,손명현,김규언,윤춘식 연세대학교의과대학 2006 Yonsei medical journal Vol.47 No.4

A peritonsillar abscess is one of the most commonly occurring deep space infections of the head and neck in adults and children. A peritonsillar abscess that appears in newborns, however, is extremely rare. The treatment of a peritonsillar abscess requires both the selection of appropriate antibiotics and the best procedure to remove the abscessed material. We report a case of a peritonsillar abscess in a 40-day-old infant who was treated with antibiotic therapy alone.

시각장애대학생들의 학업스트레스와 온라인 학습만족의 관계 연구: 학습내용의 적절성과 온라인 학습 상호작용의 조절효과 검증을 중심으로

이순민,오윤진 한국시각장애교육&재활학회 2014 시각장애연구 Vol.30 No.4

This study explored the relationships of academic stress and e-learning satisfaction, and examined the moderating roles of learning contents adequacy and e-learning interaction on the main effect of academic stress to e-learning satisfaction. A total of 103 students with visual impairments at one of cyber universities in Seoul, Korea, participated in the study by email or telephone survey. Correlation and multiple moderated regression analyses were utilized to test research questions. Results revealed that academic stress predicted e-learning satisfaction with statistical significance. Learning contents adequacy and e-learning interaction predicted e-learning satisfaction with statistical significance. However, both of learning contents adequacy and e-learning interaction did not moderate the relationship of academic stress and e-learning satisfaction. Educational implications and suggestions were discussed for students with visual impairments in cyber universities, in order to improve learning contents adequacy and e-learning interaction and further increase e-learning satisfaction. 본 연구는 사이버대학교에 재학 중인 시각장애학생들의 학업스트레스가 온라인 학습만족을 예측할 때 학습내용의 적절성과 온라인 학습 상호작용이 조절변수로서 완충효과를 나타내는지 검증하였다. 사이버대학교에 재학 중인 시각장애학생 총 103명이 연구에 참여하였으며, 상관관계 분석과 Baron과 Kenny(1986)의 조절효과 검증절차에 따른 위계적 다변인 회귀분석을 통해 학습내용의 적절성과 온라인 학습 상호작용의 완충효과를 검증하였다. 연구결과, 학업스트레스는 온라인 학습만족을 유의미하게 예측하였다. 학습내용의 적절성과 온라인 학습 상호작용 모두 온라인 학습만족을 예측하는데 있어 통계적으로 유의한 직접적인 예측변수로 나타났다. 그러나 학습내용의 적절성과 온라인 학습 상호작용은 조절변수로서 학업스트레스가 온라인 학습만족에 부정적인 영향을 미칠 때 완충효과를 나타내지는 못했다. 연구결과에 근거하여, 학업스트레스가 온라인 학습만족을 저하시키는 상황에서, 시각장애학생의 학습내용의 적절성과 온라인 학습 상호작용을 향상시켜 온라인 학습만족을 높일 수 있는 방안들이 논의되었다.

Parenteral Nutrition Associated Cholestasis Is Earlier, More Prolonged and Severe in Small for Gestational Age Compared with Appropriate for Gestational Age Very Low Birth Weight Infants

이순민,남궁란,박민수,은호선,김남효,박국인,이철 연세대학교의과대학 2013 Yonsei medical journal Vol.54 No.4

Purpose: We hypothesized that parenteral nutrition associated cholestasis (PNAC) would be more severe in small for gestational age (SGA) compared with appropriate for gestational age (AGA) very low birth weight (VLBW) infants. Materials and Methods: Sixty-one VLBW infants were diagnosed as PNAC with exposure to parenteral nutrition with elevation of direct bilirubin ≥2 mg/dL for ≥14 days. Twenty-one SGA infants and 40 AGA infants matched for gestation were compared. Results: Compared with AGA infants, PNAC in SGA infants was diagnosed earlier (25±7 days vs. 35±14 days, p=0.002) and persisted longer (62±36 days vs. 46±27 days, p=0.048). Severe PNAC, defined as persistent elevation of direct bilirubin ≥4 mg/dL for more than 1 month with elevation of liver enzymes, was more frequent in SGA than in AGA infants (61% vs. 35%, p=0.018). The serum total bilirubin and direct bilirubin levels during the 13 weeks of life were significantly different in SGA compared with AGA infants. SGA infants had more frequent (76% vs. 50%, p=0.046), and persistent elevation of alanine aminotransferase. Conclusion: The clinical course of PNAC is more persistent and severe in SGA infants. Careful monitoring and treatment are required for SGA infants.

미숙아 지속관리 시범사업

이순민 한국모자보건학회 2022 한국모자보건학회 학술대회 연제집 Vol.2022 No.1

미숙아의 호흡기 관리

이순민 대한외과학회 2012 대한외과학회 학술대회 초록집 Vol.2012 No.11

중증 태변 흡인 증후군에서 인공 폐표면활성제 세정요법의 효과에 관한 비교 연구

이순민,전지현,박민수,박국인,남궁란,이철 대한소아청소년과학회 2008 Clinical and Experimental Pediatrics (CEP) Vol.51 No.4

Purpose:The surfactant dysfunction may play an important role in meconium aspiration syndrome (MAS). We aim to evaluate the effect of surfactant lavage in the treatment of term infants with MAS. Methods:The medical records of 15 neonates with severe MAS admitted at Yongdong Severance Hospital from 2005 to 2007 were reviewed and analyzed. Seven infants with severe MAS necessitating mechanical ventilation underwent tracheobronchial lavage with 20 mL/kg of diluted (5.3 mg phospholipid/mL) surfactant saline suspension (NewfactanⓇ). Data regarding clinical outcomes was assessed by comparison with 8 control infants with equally severe MAS retrospectively. Results:In the lavage group, radiological improvement was evident after 6 hours of treatment. The duration of artificial ventilation and duration of hospital day were also significantly shorten in the lavage group compared with the control group. The mean oxygen index, mean ventilation index improved significantly within the first 6 hours after treatment. No differences were found in the incidence of major complications and mortality between the two groups. Conclusion:The surfactant lavage seems to be an effective and safe method for treatment of severe MAS. A multicenter, large scaled randomized controlled trial is needed for further study. (Korean J Pediatr 2008;51:367-371) Purpose:The surfactant dysfunction may play an important role in meconium aspiration syndrome (MAS). We aim to evaluate the effect of surfactant lavage in the treatment of term infants with MAS. Methods:The medical records of 15 neonates with severe MAS admitted at Yongdong Severance Hospital from 2005 to 2007 were reviewed and analyzed. Seven infants with severe MAS necessitating mechanical ventilation underwent tracheobronchial lavage with 20 mL/kg of diluted (5.3 mg phospholipid/mL) surfactant saline suspension (NewfactanⓇ). Data regarding clinical outcomes was assessed by comparison with 8 control infants with equally severe MAS retrospectively. Results:In the lavage group, radiological improvement was evident after 6 hours of treatment. The duration of artificial ventilation and duration of hospital day were also significantly shorten in the lavage group compared with the control group. The mean oxygen index, mean ventilation index improved significantly within the first 6 hours after treatment. No differences were found in the incidence of major complications and mortality between the two groups. Conclusion:The surfactant lavage seems to be an effective and safe method for treatment of severe MAS. A multicenter, large scaled randomized controlled trial is needed for further study. (Korean J Pediatr 2008;51:367-371)

De novo interstitial direct duplication 8 (p21.3p23.1) with Pierre Robin sequence

이순민,박민수,박국인,남궁란,이철,이진성,이경아,최종락 대한소아청소년과학회 2009 Clinical and Experimental Pediatrics (CEP) Vol.52 No.5

The Pierre Robin sequence (PRS) is the nonrandom association of micrognathia, cleft palate, and glossoptosis, leading to respiratory and feeding difficulties that appear neurogenic rather than mechanical in causation. Genetic determinants are thought to underlie this functional and morphological entity, based on the existence of Mendelian syndromes with PRS. Here, we demonstrate the association of PRS with trisomy 8p due to duplication of a segment as the karyotype 46,XX,dup(8)(p21.3p23.1) and confirm the additional materials as chromosome 8 via whole chromosome paint probes. Our observation supports the hypothesis regarding a genetic basis for nonsyndromic PRS, strengthens the possible genetic association with isolated cleft palate, and provides a candidate PRS locus in chromosomal region 8(p21.3p23.1).

가장 훌륭한 교재 (교육&재미), 에듀테인먼트 : 크리에이티브 컨버전스

이순민 한국콘텐츠진흥원 2013 케이콘텐츠 Vol.2013 No.6

High Incidence of Rickets in Extremely Low Birth Weight Infants with Severe Parenteral Nutrition-Associated Cholestasis and Bronchopulmonary Dysplasia

이순민,남궁란,박민수,은호선,박국인,이철 대한의학회 2012 Journal of Korean medical science Vol.27 No.12

Risk factors for rickets of prematurity have not been re-examined since introduction of high mineral formula, particularly in ELBW infants. We analyzed the incidence and the risk factors of rickets in extremely low birth weight (ELBW) infants. As a retrospective casecontrol study from 2004 to 2008, risk factors were analyzed in 24 patients with rickets versus 31 patients without. The frequency of rickets in ELBW infants was 24/55 (44%). Infants with rickets were diagnosed at 48.2 ± 16.1 days of age, and improved by 85.3 ± 25.3 days. By radiologic evaluation, 29% were grade 1 rickets, 58% grade 2 and 13% grade 3. In univariate analysis, infants with rickets had significantly higher incidence of patent ductus arteriosus, parenteral nutrition associated cholestasis (PNAC), severe PNAC and moderate/severe bronchopulmonary dysplasia (BPD). In multiple regression analysis, after adjustment for gestation and birth weight, rickets significantly correlated with severe PNAC and with moderate/severe BPD. Serum peak alkaline phosphatase levels were significantly elevated in rickets (P < 0.001). In ELBW infants, the incidence of rickets of prematurity remains high and the incidence of severe PNAC and moderate/severe BPD was significantly increased 18 and 3 times, respectively.