Hereditary angioedema secondary to C1-inhibitor deficiency is a rare autosomal dominant disorder characterized by a deficiency of C1 esterase inhibitor.An eight-year-old girl showed periorbital painless swelling, diag...Hereditary angioedema secondary to C1-inhibitor deficiency is a rare autosomal dominant disorder characterized by a deficiency of C1 esterase inhibitor.An eight-year-old girl showed periorbital painless swelling, diagnosed as ethmoiditis. A craniofacial scan did not evidence a paranasal sinus involvement, C1INH levels were undetectable, with low C4 levels: 7.6 mg/dl and C1INH: <8.46 mg/dl. The genetic study identified a rare mutation of the C1INH gene. This clinical report is of relieve because paediatric cases described in literature are rare, did not presented a positive family history, and received a diagnosis after many attacks. Furthermore our girl received a prompt diagnosis of HAE at the first attack of angioedema.展开更多
Hereditary angioedema is a rare but life-threatening disease, usually resulting from upper respiratory tract traumas and stress. In this case report, we present the management of a 14-year-old female patient who was d...Hereditary angioedema is a rare but life-threatening disease, usually resulting from upper respiratory tract traumas and stress. In this case report, we present the management of a 14-year-old female patient who was diagnosed with hereditary angioedema and scheduled to undergo transurethral resection of bladder (TURB) procedure for bladder tumor. She was on prophylactic danazol treatment and prior to the operation the dose of danazol was increased. On the day of the operation, patient was given C1-IHN concentrate and was sedated. In conclusion, hereditary angioedema is a rare disease in which multidisciplinary and aggressive approach during anesthesia would yield successful results.展开更多
Antithrombin and protein C are two crucial members in the anticoagulant system and play important roles in hemostasis. Mutations in SERPINC1 and PROC lead to deficiency or dysfunction of the two proteins, which could ...Antithrombin and protein C are two crucial members in the anticoagulant system and play important roles in hemostasis. Mutations in SERPINC1 and PROC lead to deficiency or dysfunction of the two proteins, which could result in venous thromboembolism （VTE）. Here, we report a Chinese 22-year-old young man who developed recurrent and serious VTE in cerebral veins, visceral veins, and deep veins of the lower extremity. Laboratory tests and direct sequencing of PROC and SERPINC1 were conducted for the patient and his family members. Coagulation tests revealed that the patient presented type I antithrombin deficiency combined with decreased protein C activity resulting from a small insertion mutation c.848_849insGATGT in SERPINC1 and a short deletion variant c.572 574delAGA in PROC. This combination of the two mutations was absent in 400 healthy subjects each from southern and northern China. Then, we summarized all the mutations of the SERPINC1 and PROC gene reported in the Chinese Han population. This study demonstrates that the combination of antithrombin deficiency and decreased protein C activity can result in severe VTE and that the coexistence of different genetic factors may increase the risk of VTE.展开更多
Recurrent thrombotic occlusions are one major problem in patients with thrombosis of the inferior vena cava. Due to this, we report a new surgical strategy for the construction of aorto-caval (mesenteric-caval) fistul...Recurrent thrombotic occlusions are one major problem in patients with thrombosis of the inferior vena cava. Due to this, we report a new surgical strategy for the construction of aorto-caval (mesenteric-caval) fistula in a patient with homozygous Antithrombin III (ATIII)-Deficiency. The patient survived postoperatively and only surgical complications grade I and II (Clavien-Dindo classification) were reported after short-term and one year follow-up. After one year, the CT-angiography did not show any caval thrombosis or stenosis and no restriction or occlusion of the fistula. Thus, the mesenteric-caval fistula could be safely performed and resulted in a satisfactory patency.展开更多
BACKGROUND Hereditary hemochromatosis(HH)has an increased risk of hepatocellular cancer(HCC)both due to genetic risks and iron overload as iron overload can be carcinogenic;HH impacts the increasing risk of HCC,not on...BACKGROUND Hereditary hemochromatosis(HH)has an increased risk of hepatocellular cancer(HCC)both due to genetic risks and iron overload as iron overload can be carcinogenic;HH impacts the increasing risk of HCC,not only through the development of cirrhosis but concerning hepatic iron deposition,which has been studied further recently.AIM To evaluate HH yearly trends,patient demographics,symptoms,comorbidities,and hospital outcomes.The secondary aim sheds light on the risk of iron overload for developing HCC in HH patients,independent of liver cirrhosis complications.The study investigated HH(without cirrhosis)as an independent risk factor for HCC.METHODS We analyzed data from National Inpatient Sample(NIS)Database,the largest national inpatient data collection in the United States,and selected HH and HCC cohorts.HH was first defined in 2011 International Classification of Disease-9th edition(ICD-9)as a separate diagnosis;the HH cohort is extracted from January 2011 to December 2019 using 275.01(ICD-9)and E83.110(ICD-10)diagnosis codes of HH.Patients were excluded from the HH cohort if they had a primary or secondary diagnostic code of cirrhosis(alcoholic,non-alcoholic,and biliary),viralhepatitis,alcoholic liver disease,non-alcoholic fatty liver disease(NAFLD),and non-alcoholic steatohepatitis(NASH).We removed these patients from the HH cohort to rule out bias or ICD-10 diagnostic errors.The HCC cohort is selected from January 2011 to December 2019 using the ICD-9 and ICD-10 codes of HCC.We selected a non-HCC cohort with the 1:1 fixed ratio nearest neighbor(greedy)propensity score method using the patients'age,gender,and race.We performed multivariate analysis for the risk factors of HCC in the HCC and non-HCC matched cohort.We further analyzed HH without cirrhosis(removing HH patients with a diagnosis of cirrhosis)as an independent risk factor of HCC after adjusting all known risk factors of HCC in the multivariate model.RESULTS During the 2011-2019 period,a total of 18031 hospitalizations with a primary or secondary diagnosis of HH(excluding liver diseases)were recorded in the NIS database.We analyzed different patients’characteristics,and we found increments in inpatient population trend with a Ptrend<0.001 and total hospital cost of care trend from$42957 in 2011 to$66152 in 2019 with a Ptrend<0.001 despite no change in Length of Stay over the last decade.The multivariate analyses showed that HH without cirrhosis(aOR,28.8;95%CI,10.4–80.1;P<0.0001),biliary cirrhosis(aOR,19.3;95%CI,13.4–27.6;P<0.0001),non-alcoholic cirrhosis(aOR,17.4;95%CI,16.5–18.4;P<0.0001),alcoholic cirrhosis(aOR,16.9;95%CI,15.9–17.9;P<0.0001),hepatitis B(aOR,12.1;95%CI,10.85–13.60;P<0.0001),hepatitis C(aOR,8.58;95%CI,8.20–8.98;P<0.0001),Wilson disease(aOR,4.27;95%CI,1.18–15.41;P<0.0001),NAFLD or NASH(aOR,2.96;95%CI,2.73–3.20;P<0.0001),alpha1-antitrypsin deficiency(aOR,2.10;95%CI,1.21–3.64;P<0.0001),diabetes mellitus without chronic complications(aOR,1.17;95%CI,1.13–1.21;P<0.0001),and blood transfusion(aOR,1.80;95%CI,1.69–1.92;P<0.0001)are independent risk factor for liver cancer.CONCLUSION Our study showed an increasing trend of in-hospital admissions of HH patients in the last decade.These trends were likely related to advances in diagnostic approach,which can lead to increased hospital utilization and cost increments.Still,the length of stay remained the same,likely due to a big part of management being done in outpatient settings.Another vital part of our study is the significant result that HH without cirrhosis is an independent risk factor for HCC with adjusting all known risk factors.More prospective and retrospective large studies are needed to re-evaluate the HH independent risk in developing HCC.展开更多
遗传性蛋白C缺乏症(hereditary protein C deficiency,HPCD)主要表现为罕见的新生儿期暴发性紫癜,疾病进展迅速,死亡率高,诊治困难,早期识别和正确诊治可显著改善预后。本文报道1例PROC基因复合杂合突变所致的新生儿HPCD,患儿出生后24 ...遗传性蛋白C缺乏症(hereditary protein C deficiency,HPCD)主要表现为罕见的新生儿期暴发性紫癜,疾病进展迅速,死亡率高,诊治困难,早期识别和正确诊治可显著改善预后。本文报道1例PROC基因复合杂合突变所致的新生儿HPCD,患儿出生后24 h内即出现反复皮肤紫癜,6月龄前辗转就诊于国内多家医院,未明确诊断。我院就诊期间查患儿凝血功能异常,蛋白C水平极低,通过静脉输注新鲜冰冻血浆及长期口服抗凝药物治疗,患儿病情控制良好,该病例为国内首例成功救治的最小年龄HPCD病例。儿科医师在临床实践中应提高对该病的早期识别能力;新鲜冰冻血浆联合口服抗凝药物治疗HPCD效果确切,在无蛋白C浓缩物的情况下,临床上可考虑该治疗方案。展开更多
文摘Hereditary angioedema secondary to C1-inhibitor deficiency is a rare autosomal dominant disorder characterized by a deficiency of C1 esterase inhibitor.An eight-year-old girl showed periorbital painless swelling, diagnosed as ethmoiditis. A craniofacial scan did not evidence a paranasal sinus involvement, C1INH levels were undetectable, with low C4 levels: 7.6 mg/dl and C1INH: <8.46 mg/dl. The genetic study identified a rare mutation of the C1INH gene. This clinical report is of relieve because paediatric cases described in literature are rare, did not presented a positive family history, and received a diagnosis after many attacks. Furthermore our girl received a prompt diagnosis of HAE at the first attack of angioedema.
文摘Hereditary angioedema is a rare but life-threatening disease, usually resulting from upper respiratory tract traumas and stress. In this case report, we present the management of a 14-year-old female patient who was diagnosed with hereditary angioedema and scheduled to undergo transurethral resection of bladder (TURB) procedure for bladder tumor. She was on prophylactic danazol treatment and prior to the operation the dose of danazol was increased. On the day of the operation, patient was given C1-IHN concentrate and was sedated. In conclusion, hereditary angioedema is a rare disease in which multidisciplinary and aggressive approach during anesthesia would yield successful results.
基金The authors would like to thank the family for their participation in this study. This work was supported by grants from the National Natural Science Foundation of China （No. 81400185）.
文摘Antithrombin and protein C are two crucial members in the anticoagulant system and play important roles in hemostasis. Mutations in SERPINC1 and PROC lead to deficiency or dysfunction of the two proteins, which could result in venous thromboembolism （VTE）. Here, we report a Chinese 22-year-old young man who developed recurrent and serious VTE in cerebral veins, visceral veins, and deep veins of the lower extremity. Laboratory tests and direct sequencing of PROC and SERPINC1 were conducted for the patient and his family members. Coagulation tests revealed that the patient presented type I antithrombin deficiency combined with decreased protein C activity resulting from a small insertion mutation c.848_849insGATGT in SERPINC1 and a short deletion variant c.572 574delAGA in PROC. This combination of the two mutations was absent in 400 healthy subjects each from southern and northern China. Then, we summarized all the mutations of the SERPINC1 and PROC gene reported in the Chinese Han population. This study demonstrates that the combination of antithrombin deficiency and decreased protein C activity can result in severe VTE and that the coexistence of different genetic factors may increase the risk of VTE.
文摘Recurrent thrombotic occlusions are one major problem in patients with thrombosis of the inferior vena cava. Due to this, we report a new surgical strategy for the construction of aorto-caval (mesenteric-caval) fistula in a patient with homozygous Antithrombin III (ATIII)-Deficiency. The patient survived postoperatively and only surgical complications grade I and II (Clavien-Dindo classification) were reported after short-term and one year follow-up. After one year, the CT-angiography did not show any caval thrombosis or stenosis and no restriction or occlusion of the fistula. Thus, the mesenteric-caval fistula could be safely performed and resulted in a satisfactory patency.
文摘BACKGROUND Hereditary hemochromatosis(HH)has an increased risk of hepatocellular cancer(HCC)both due to genetic risks and iron overload as iron overload can be carcinogenic;HH impacts the increasing risk of HCC,not only through the development of cirrhosis but concerning hepatic iron deposition,which has been studied further recently.AIM To evaluate HH yearly trends,patient demographics,symptoms,comorbidities,and hospital outcomes.The secondary aim sheds light on the risk of iron overload for developing HCC in HH patients,independent of liver cirrhosis complications.The study investigated HH(without cirrhosis)as an independent risk factor for HCC.METHODS We analyzed data from National Inpatient Sample(NIS)Database,the largest national inpatient data collection in the United States,and selected HH and HCC cohorts.HH was first defined in 2011 International Classification of Disease-9th edition(ICD-9)as a separate diagnosis;the HH cohort is extracted from January 2011 to December 2019 using 275.01(ICD-9)and E83.110(ICD-10)diagnosis codes of HH.Patients were excluded from the HH cohort if they had a primary or secondary diagnostic code of cirrhosis(alcoholic,non-alcoholic,and biliary),viralhepatitis,alcoholic liver disease,non-alcoholic fatty liver disease(NAFLD),and non-alcoholic steatohepatitis(NASH).We removed these patients from the HH cohort to rule out bias or ICD-10 diagnostic errors.The HCC cohort is selected from January 2011 to December 2019 using the ICD-9 and ICD-10 codes of HCC.We selected a non-HCC cohort with the 1:1 fixed ratio nearest neighbor(greedy)propensity score method using the patients'age,gender,and race.We performed multivariate analysis for the risk factors of HCC in the HCC and non-HCC matched cohort.We further analyzed HH without cirrhosis(removing HH patients with a diagnosis of cirrhosis)as an independent risk factor of HCC after adjusting all known risk factors of HCC in the multivariate model.RESULTS During the 2011-2019 period,a total of 18031 hospitalizations with a primary or secondary diagnosis of HH(excluding liver diseases)were recorded in the NIS database.We analyzed different patients’characteristics,and we found increments in inpatient population trend with a Ptrend<0.001 and total hospital cost of care trend from$42957 in 2011 to$66152 in 2019 with a Ptrend<0.001 despite no change in Length of Stay over the last decade.The multivariate analyses showed that HH without cirrhosis(aOR,28.8;95%CI,10.4–80.1;P<0.0001),biliary cirrhosis(aOR,19.3;95%CI,13.4–27.6;P<0.0001),non-alcoholic cirrhosis(aOR,17.4;95%CI,16.5–18.4;P<0.0001),alcoholic cirrhosis(aOR,16.9;95%CI,15.9–17.9;P<0.0001),hepatitis B(aOR,12.1;95%CI,10.85–13.60;P<0.0001),hepatitis C(aOR,8.58;95%CI,8.20–8.98;P<0.0001),Wilson disease(aOR,4.27;95%CI,1.18–15.41;P<0.0001),NAFLD or NASH(aOR,2.96;95%CI,2.73–3.20;P<0.0001),alpha1-antitrypsin deficiency(aOR,2.10;95%CI,1.21–3.64;P<0.0001),diabetes mellitus without chronic complications(aOR,1.17;95%CI,1.13–1.21;P<0.0001),and blood transfusion(aOR,1.80;95%CI,1.69–1.92;P<0.0001)are independent risk factor for liver cancer.CONCLUSION Our study showed an increasing trend of in-hospital admissions of HH patients in the last decade.These trends were likely related to advances in diagnostic approach,which can lead to increased hospital utilization and cost increments.Still,the length of stay remained the same,likely due to a big part of management being done in outpatient settings.Another vital part of our study is the significant result that HH without cirrhosis is an independent risk factor for HCC with adjusting all known risk factors.More prospective and retrospective large studies are needed to re-evaluate the HH independent risk in developing HCC.
文摘遗传性蛋白C缺乏症(hereditary protein C deficiency,HPCD)主要表现为罕见的新生儿期暴发性紫癜,疾病进展迅速,死亡率高,诊治困难,早期识别和正确诊治可显著改善预后。本文报道1例PROC基因复合杂合突变所致的新生儿HPCD,患儿出生后24 h内即出现反复皮肤紫癜,6月龄前辗转就诊于国内多家医院,未明确诊断。我院就诊期间查患儿凝血功能异常,蛋白C水平极低,通过静脉输注新鲜冰冻血浆及长期口服抗凝药物治疗,患儿病情控制良好,该病例为国内首例成功救治的最小年龄HPCD病例。儿科医师在临床实践中应提高对该病的早期识别能力;新鲜冰冻血浆联合口服抗凝药物治疗HPCD效果确切,在无蛋白C浓缩物的情况下,临床上可考虑该治疗方案。
