급성 심근경색증 및 정상적인 관상동맥 조영술을 보인 유전성 S 단백 결핍증 1례

권영주 순천향의학연구소 2004 Journal of Soonchunhyang Medical Science Vol.10 No.2

Protein S is a vitamin K-dependent plasma protein that inhibits the process of blood coagulation via activation of protein C, another vitamin K-dependent plasma protein. Protein S deficiency may be associated with thrombotic events, including venous and arterial thrombosis. We report a case of acute myocardial infarction and normal coronary angiogram with hereditary protein S deficiency.

C형 및 S형 단백 결핍에 의한 하지 심부 정맥혈전증

김향경,조용필,이덕희,안재홍,장혁재,김지수,김용호,한명식 대한혈관외과학회 2002 Vascular Specialist International Vol.18 No.2

Purpose: Protein C and S deficiencies are frequently described as causes of the hypercoagulable states. The aim of this study was to evaluate the clinical features and prognosis of deep venous thrombosis associated with protein C and/or S deficiencies and to determine an adequate treatment modality for such cases. Method: A total of consecutive 42 patients with deep venous thrombosis of the lower extremity were seen in our hospital between September 2000 and August 2002. Hypercoagulability studies were done before systemic anticoagulation therapy, and the diagnosis of protein C and/or S deficiencies was confirmed if antigenic protein C and/or S levels were less than 60%. Result: Seven patients (16.7%) were diagnosed with deep venous thrombosis associated with protein C and/or S deficiencies. Of these, 5 patients with acute iliofemoral deep venous thrombosis were treated with catheter-directed thrombolysis therapy, and 2 with systemic anticoagulation therapy. There were no major complications or clinically detectable pulmonary emboli. Conclusion: Protein C and/or S deficiencies are one of the common causes of deep venous thrombosis. Considering that patients with deep venous thrombosis and protein C and/or S deficiencies should be treated with life-long anticoagulation for the prevention of recurrence, patients presenting with deep venous thrombosis without evidence of other risk factors should be evaluated for hypercoagulable states.

단백 C 결핍 환자에서 발생한 폐색전증과 병발한 비폐쇄성 장간막 허혈증

김태완 ( Tae Wan Kim ),최성연 ( Sung Youn Choi ),강임주 ( Im Ju Kang ),강윤정 ( Yoon Jung Kang ),신동혁 ( Dong Hyuk Shin ) 대한소화기학회 2010 대한소화기학회지 Vol.55 No.3

Protein C is an important physiological anticoagulant factor. Protein C deficiency has been linked to venous thrombosis at unusual sites, including the cerebral and mesenteric veins. Hereditary protein C deficiency is inherited primarily as an autosomal dominant trait with incomplete penetrance. Protein C and S deficiencies are known to increase the risk of venous thrombosis and pulmonary thromboembolism. Testing for protein C levels and function is necessary for the detection of both type I and type II protein C deficiency. In this article, we report a case of pulmonary embolism and mesentery ischemia due to type 1 protein C deficiency. (Korean J Gastroenterol 2010;55:194-197)

Sulphur Supply Level Effects on the Assimilation of Nitrate and Sulphate into Amino Acids and Protein in Forage Rape (Brassica napus L.)

Bok-Rye Lee,Tae-Hwan Kim 한국초지조사료학회 2012 한국초지조사료학회지 Vol.32 No.4

Sulphur deficiency has become widespread over the past several decades in most of the agricultural area. Oilseed rape (Brassica napus L.) is a very sensitive to S limitation which is becoming reduction of quality and productivity of forage. Few studies have assessed the sulphur mobilization in the source-sink relationship, very little is known about the regulatory mechanism in interaction between sulphur and nitrogen during the short-term sulphur deficiency. In this study, therefore, amount of sulphur and nitrogen incorporated into amino acids and proteins as affected by different S-supplied level (Control: 1 mM SO₄<SUP>2-</SUP> , S-deficiency: 0.1 mM SO₄<SUP>2-</SUP> , and S-deprivation: 0 mM SO₄<SUP>2-</SUP> ) were examined. The amount of sulphur in sulphate (S-sulphate) was significantly decreased by 25.8% in S-deprivation condition, compare to control, but not nitrogen in nitrate (N-nitrate). The markedly increase of sulphur and nitrogen incorporated amino acids (S-amino acids and N-amino acids) was observed in both S-deficiency and S-deprivation treatments. The amount of nitrogen incorporated proteins (N-protein) was strongly decreased as sulphur availability while the amount of sulphur incorporated into proteins (S-protein) was not affected. A highly significant (p≤0.001) relationship between S-sulphate and S-amino acid was observed whereas the increase of N-amino acids is closely associated with decrease of N-proteins. These data indicate that increase of sulphur and nitrogen incorporated into amino acids was from different nitrogen and sulphur metabolites, respectively.

동형접합성 단백 C 결핍에 의한 신생아 전격성 자반증 1 예

조주현(Ju Hyun Jo),오창근(Chang Keun Oh),김문범(Moon Bum Kim),장호선(Ho Sun Jang),권경술(Kyung Sool Kwon) 대한피부과학회 2002 대한피부과학회지 Vol.40 No.1

Homozygous protein C deficiency is a rare hereditary coagulation disorder that occurs most often in childhood and is characterized by widespread thrombosis of capillaries and venules, abrupt onset of ecchymoses and necrosis. The hematological feature corresponds with disseminated intravascular coagulation. Protein C is a natural anticoagulant and also has important anti-inflammatory activity. For confirmation of homozygous protein C deficiency, the infant should have undetectable protein C activity and both parents should be heterozygous for protein C deficiency. We experienced a case of purpura fulminans in the newborn infant in whom we identifed homozygosity for familial protein C deficiency. Fresh frozen plasma for replacement of protein C, early debridement and full-thickness skin graft induced a remission. Administration of warfarin was used to prevent recurrence of attacks. This report emphasizes the need for early diagnosis and adequate replacement therapy in patient with purpura fulminans. (Korean J Dermatol 2002;40(1):38~43)

Bilateral Retinal Dysplasia and Secondary Glaucoma Associated with Homozygous Protein C Deficiency

( Un Chul Park ),( Ho Kyung Choung ),( Seong Joon Kim ),( Young Suk Yu ) 대한안과학회 2005 Korean Journal of Ophthalmology Vol.19 No.2

Purpose: Protein C deficiency is an autosomal recessive disorder, which predisposes the patient to potentially blinding and widespread lethal thromboembolic complications, especially in the homozygous type. We here report the first Korean case of ophthalmic involvement and its surgical treatment in homozygous protein C deficiency. Methods: A 3.4kg, full term girl was born by normal delivery but showed bilateral leukocoria on day 2. Laboratory results disclosed a very low protein C activity level (10%) in the patient and moderately decreased levels in the other family members. Ophthalmic examination showed bilateral corneal opacity and shallow anterior chamber. B-scan ultrasonography which showed intravitreal mass lesions without microphthalmos and a funnel-shaped retinal detachment suggested bilateral retinal dysplasia. Results: As the eyes were under progression of secondary glaucoma, bilateral lensectomies were performed at 2 months old and corneal opacity was regressed to some degree. However, at 14 months old, the left eye showed moderate corneal opacity with a band keratopathy. Conclusions: Although visual outcome was very poor after surgery, we could impede or slow down the progression of secondary glaucoma and save the eyeballs in the infant with homozygous protein C deficiency.

S 단백질 결핍과 관련된 소아 뇌경색 1례

유연호,박성수,박정규,박정수,정성필 대한응급의학회 2002 대한응급의학회지 Vol.13 No.3

The occurrence of acute ischemic stroke in childhood is rare. The etilogy of childhood ischemic stroke is different from that of an adult, and coagulation abnormalities are suspected to be related. Protein S is a vitamin-K-dependent plasma protein that inhibits the coagulation system by serving as a cofactor for activated protein C, and the clinical manifestations of its deficiency are virtually identical to those of protein C deficiency. We reported the case of a child who presented with right side weakness and who was diagnosed as having a cerebral infarction associated with protein S deficiency as the cause of stroke.

Identification of Mutations in the Thyroxine-Binding Globulin (TBG) Gene in Patients with TBG Deficiency in Korea

허정,Sang-Mi Kim,Hyun Jin Ryu,박현주,김태혁,Jae Hoon Chung,Hyung-Doo Park,김선욱 대한내분비학회 2022 Endocrinology and metabolism Vol.37 No.6

Background: Thyroxine-binding globulin (TBG) is a major transporter protein for thyroid hormones. The serpin family A member 7 (SERPINA7) gene codes for TBG, and mutations of the SERPINA7 gene result in TBG deficiency. Although more than 40 mutations have been reported in several countries, only a few studies of TBG deficiency and SERPINA7 gene mutation have been performed in Korea. The aim of this study is to review the clinical presentations and laboratory findings of patients with TBG deficiency and to investigate the types of SERPINA7 gene mutation. Methods: Five unrelated Korean adults with TBG deficiency attending endocrinology clinic underwent SERPINA7 gene sequencing. Four patients harbored a SERPINA7 gene mutation. Serum thyroid hormones, anti-microsomal antibodies, and TBG were measured. Genomic DNA was extracted from whole blood. All exons and intron-exon boundaries of the TBG gene were amplified and sequencing was performed. Results: Two patients were heterozygous females, and the other two were hemizygous males. One heterozygous female had coexisting hypothyroidism. The other heterozygous female was erroneously prescribed levothyroxine at a local clinic. One hemizygous male harbored a novel mutation, p.Phe269Cysfs*18, which caused TBG partial deficiency. Three patients had the p.Leu372Phefs*23 mutation, which is known as TBG-complete deficiency Japan (TBG-CDJ) and was also presented in previous mutation analyses in Korea. Conclusion: This study presents four patients diagnosed with TBG deficiency and provides the results of SERPINA7 gene sequencing. One novel mutation, p.Phe269Cysfs*18, causing TBD-partial deficiency and three cases of TBG-CDJ were demonstrated. It is necessary to identify TBG deficiency to prevent improper treatment. Also, sequencing of the SERPINA7 gene would provide valuable information about the TBG variants in Korea.

The Response to Oxidative Stress Induced by Magnesium Deficiency in Kidney Bean Plants

Kiyoshi, Tanaka,Shon, Young-Goel,Lee, Sung-Ho,Kim, Hak-Yoon,Moon, Myoung-Soo,Lee, Jeung-Joo 한국식물학회 1999 Journal of Plant Biology Vol.42 No.4

To understand the plant response to oxidative stresses, we studied the influence of magnesium (Mg^++) deficiency on the formation of hydrogen peroxide (H_2O_2), malondialdehyde (MDA), and protease activity in kidney bean plants. The expression pattern of proteins under Mg^++ deficiency also was examined via two-dimensional electrophoresis. The formation of H_2O_2 and MDA increased in the primary leaves of plants grown in a nutrient solution deficient in Mg^++. Protease activity in Mg^++ -deficient plants was also higher than in those grown with sufficient Mg^++. The expression pattern of the proteins showed that 25 new proteins were generated and 64 proteins disappeared under Mg^++- deficient conditions. Therefore, a deficiency in Mg^++ may cause oxidative stress and a change in protein expression. Some of these proteins may be related to the oxidative stress induced by Mg^++ deficiency.

Isolated Celiac Artery Dissection and Splenic Infarction in a Patient with Protein S Deficiency: A Case Report

김병섭,김병섭,김인규,전장용 한국간담췌외과학회 2010 한국간담췌외과학회지 Vol.14 No.3

Protein S (PS) deficiency is a rare blood disorder associated with thrombosis. Only a small number of cases of isolated celiac artery dissection can be found in the literature. We now report a case of isolated celiac artery dissection and splenic infarction in a 44-year old male with PS deficiency. Abdominal computed tomography revealed celiac artery dissection and splenic infarction. The patient's PS activity was 64% (nl : 70∼140%) upon admission and 52% four weeks later. He was started on a regimen of NPO, antibiotics, and analgesics. He resumed oral intake of food and drugs on hospital day 3 and was discharged to his home on hospital day 8. We report a case of isolated celiac artery dissection with splenic infarction in a patient with PS deficiency that improved with conservative treatment. The patient's management did not include anti-platelet/thrombotic agents or endovascular/operational procedures.