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SLC25A13 유전자 돌연변이로 확진된 성인형 제 2형 시트룰린혈증 1례
정민섭,양아람,김진섭,박형두,이헌주,진동규,조성윤,Jeung, Min Sub,Yang, Aram,Kim, Jinsup,Park, Hyung-Doo,Lee, Heon Ju,Jin, Dong-Kyu,Cho, Sung Yoon 대한유전성대사질환학회 2016 대한유전성대사질환학회지 Vol.16 No.1
Adult-onset type II citrullinemia (CTLN2) is characterized by episodes of neurologic symptoms associated with hyperammonemia leading to disorientation, irritability, seizures, and coma. CTLN2 is distinct from classical citrullinemia, which is caused by a mutation of the argininosuccinic acid synthetase (ASS) gene. The serum citrulline level is elevated, while the activity of ASS in liver tissue is decreased. CTLN2 is known to have a poor prognosis if the proper treatment is not taken. We reported a female aged 37 years who developed recurrent attacks of altered consciousness, aberrant behavior, and vomiting. We initially suspected the patient had CTLN2 because of the signs of hyperammonemic encephalopathy, such as altered mentality, memory disturbance, and aberrant behaviors provoked by exercise-induced stress and excessive intravenous amino acid administration. Through her peculiar diet preferences and laboratory findings that included hyperammonemia and citrullinemia, we diagnosed the patient as CTLN2, and SLC25A13 sequencing revealed known compound heterozygous mutations (IVS11+1G>A, c.674C> A). Her parents were heterozygous carriers, and we identified that her older sister had the same mutations. The older sister had not experienced any episodes of hyperammonemia, but she had peculiar diet preferences. The patient and her sister have been well with conservative management. When considering the clinical course of CTLN2, it was meaningful that the older sister could be diagnosed early in an asymptomatic period and that preemptive treatment was employed. Through this case, CTLN2 should be considered in adults who present symptoms of hyperammonemic encephalopathy without a definite etiology. Because of its rare incidence and similar clinical features, CTLN2 is frequently misdiagnosed as hepatic encephalopathy, and it shows a poor prognosis due to the lack of early diagnosis and proper treatment. A high-carbohydrate diet, which is usually used to treat other urea cycle defects, can also exaggerate the clinical course of CTLN2, so proper metabolic screening tests and genetic studies should be performed. 성인기에 나타난 운동으로 인한 스트레스와 과량의 단백질 투여에 의한 의식 변화, 기억 장애, 행동 장애등의 고암모니아혈증성 뇌병증 소견을 토대로 저자들은 성인형 제 2형 시트룰린혈증을 의심하였다. 검사 결과에서 고암모니아혈증, 혈중 시트룰린 상승, 요중 오로트산 경도 상승을 보였으며, 이를 통해 성인형 제 2형 시트룰린혈증을 진단하였다. SLC25A13 유전자 분석 결과를 통해 환자에게서 복합 이형 접합성 돌연변이(IVS11+1G>A, c.674C>A)를 확인하였다. 환자의 가족에서도 유전자 분석 검사를 진행하였고, 아버지, 어머니, 남동생에게서 성인형 제 2형 시트룰린혈증 보인자를, 언니에게서 성인형 제 2형 시트룰린혈증 환자임을 확인하였다. 그 동안 보고된 성인형 제 2형 시트룰린혈증의 임상 경과를 고려했을 때, 증상이 없던 언니에게서 질환을 발견하고 보존적 치료를 선제적으로 시작함으로써, 신경학적 장애 없이 일상 생활을 영위하고, 추가적인 뇌 손상을 방지하기 위한 간 이식 등 장기적인 치료 계획을 수립했다는 점에서 의의가 있다. 본 환자의 증례를 통해 고암모니아혈증성 뇌병증이 발생한 성인에서, 간질환 및 뇌질환의 증거가 없으며 다른 뚜렷한 원인이 없는 경우에는, 성인형 제 2형 시트룰린혈증을 고려해야 한다는 점을 인지하였다. 빈도가 드문 질환이지만 간성 혼수로 흔히 오인되고 있으며, 조기 진단 및 적절한 치료가 이루어지지 않으면 비가역적인 신경학적 후유증이 발생할 수 있다. 또한 다른 요소 회로 대사 질환 및 간성 혼수와는 달리, 고탄수화물 식이가 질병의 경과를 인위적으로 악화시킬 수 있기에 적절한 대사 이상 검사 및 유전자 검사가 시행되어야 하겠다. 본 증례는 반복적인 고암모니아혈증성 뇌병증 소견을 보인 37세 여성과 뇌병증 소견이 없었던 언니에게서 성인형 제 2형 시트룰린혈증을 진단하고, 즉각적인 치료를 통해 심각한 신경학적 장애 없이 일상 생활을 지속하고 있는 환자들을 문헌 고찰과 함께 보고하는 바이다.
조춘규,김지은,양헌주,성태윤,권희욱,강포순 대한마취통증의학회 2016 Anesthesia and pain medicine Vol.11 No.1
Background: Despite the established efficacy of dexamethasone and lidocaine for preventing postoperative airway symptoms, no study has investigated the effects of dexamethasone plus lidocaine for attenuating postoperative airway symptoms. The purpose of this study was to explore whether combined dexamethasone and lido- caine are superior to dexamethasone alone in reducing postopera- tive sore throat, cough, and hoarseness for 24 h after tracheal extubation. Methods: In total, 70 female patients undergoing breast mass excision were randomized in a prospective, double-blinded manner into two groups: Group DL received intravenous dexamethasone (8 mg) plus lidocaine (1.5 mg/kg) 5 min before induction of anes- thesia, and lidocaine was injected once more at the end of surgery. Group D received dexamethasone (8 mg) plus normal saline instead of lidocaine in the same manner as Group DL. We assessed the incidence and severity of postoperative sore throat, cough, and hoarseness 1 and 24 h after extubation. Results: The incidence of sore throat for 24 h after tracheal extubation was significantly lower in Group DL than in Group D (62.9% vs. 85.7%, respectively; P = 0.029). The severity of sore throat and hoarseness for 24 h after extubation was lower in Group DL than in Group D (P < 0.05). The incidence and severity of cough did not differ between the two groups for 24 h after extubation. Conclusions: Lidocaine combined with dexamethasone is more effectively reduces the incidence and severity of sore throat and severity of hoarseness for 24 h after extubation in patients who have undergone breast mass excision surgery.
Laparoscopic appendectomy under spinal anesthesia with dexmedetomidine infusion
전고운,김민수,양헌주,박동호,조춘규,권희욱,강포순,문주익,성태윤 대한마취통증의학회 2014 Korean Journal of Anesthesiology Vol.67 No.4
Background: Laparoscopic appendectomy (LA) is rarely performed under regional anesthesia because of pneumoperitoneum-related problems. We expected that dexmedetomidine would compensate for the problems arising from spinal anesthesia alone. Thus, we performed a feasibility study of spinal anesthesia with intravenous dexmedetomidine infusion. Methods: Twenty-six patients undergoing LA received spinal anesthesia with intravenous dexmedetomidine infusion. During surgery, the patient’s pain or discomfort was controlled by supplemental fentanyl or ketamine injection, and all adverse effects were evaluated. Results: No patient required conversion to general anesthesia, and all operations were completed laparoscopically without conversion to open surgery. Seventeen (65.4%) patients required supplemental injection of fentanyl or ketamine. Bradycardia occurred in seven (26.9%) patients. Conclusions: Spinal anesthesia with dexmedetomidine infusion may be feasible for LA. However, additional analgesia, sedation, and careful attention to the potential development of bradycardia are needed for a successful anesthetic outcome.
AntiHBc 단독양성인 검진자에서 혈청 GOT , GPT 치의 변화
김영조(Young Jo Kim),이헌주(Heon Ju Lee),정문관(Moon Kwan Chung),이영현(Young Hyun Lee),양창현(Chang Heon Yang),김종설(Chong Cuhl Kim) 대한소화기학회 1985 대한소화기학회지 Vol.17 No.1
N/A It is well known that Anti HBc may be causative agent of HBU infection and means viral replication. To evaluate the clinical significance of anti-HBc, serum transaminases was checked and screening test for hepatitis B surface antigen(HBsAg), antihody to hepatitis core antigen(anti-HBc) and antibody to hepatitis B surface antigen(anti-HBs) was made by radioimmunoassay technique in 419 consecutive subjects. Both groups were healthy clinically and had neither past history of liver diseases nor other causes that may change the level of serum transaminases. Followings are results of authors observation of present series; 1) The difference in incidence of elevated serum transaminases between control and anti- HBc(+) groups statistically was not significant. 2) The incidence of elevated serum transaminases among male was higher than among female in anti -HBc(+) group. 3) The incidence of elevated serum transaminases tended to be higher as ages progress in both groups. 4) The values of elevated serum transaminases in both groups were generally within the two fold upper normal values.
척수자극술을 이용한 특발성 횡단성 척수염 환자에서의 신경병증 통증 치료 -증례보고-
이청 ( Cheong Lee ),조정하 ( Jung Ha Cho ),양헌주 ( Heon Ju Yang ),이종혁 ( Jong Hyuk Lee ),우성창 ( Sung Chang Woo ),김영주 ( Young Ju Kim ),박동호 ( Dong Ho Park ),정지현 ( Ji Hyun Chung ) 대한마취과학회 2009 Korean Journal of Anesthesiology Vol.56 No.3
We present a patient with intractable neuropathic pain because of idiopathic transverse myelitis unresponsive to medical treatment. After a successful trial of spinal cord stimulation, a permanent stimulator was implanted. Improvement was noted in visual analogue scale, medication usage and daily function. Spinal cord stimulation may offer a therapeutic option for patients with neuropathic pain resulting from transverse myelitis and should be considered when other treatments are failed. (Korean J Anesthesiol 2009; 56: 358∼61)