BACKGROUND:Acute intermittent porphyria (AIP) is the most common hepatic porphyria.Its clinical presentation includes severe disabling and life-threatening neurovisceral symptoms and acute psychiatric symptoms.These s...BACKGROUND:Acute intermittent porphyria (AIP) is the most common hepatic porphyria.Its clinical presentation includes severe disabling and life-threatening neurovisceral symptoms and acute psychiatric symptoms.These symptoms result from the overproduction and accumulation of porphyrin precursors,5-aminoleuvulinic acid (ALA) and porphobilinogen (PBG).The effect of medical treatment is transient and is not effective once irreversible neurological damage has occurred.Liver transplantation (LT) replaces hepatic enzymes and can restore normal excretion of ALA and PBG and prevent acute attacks.METHOD:Two cases of LT for AIP were identified retrospectively from a prospectively maintained LT database.RESULT:LT was successful with resolution of AIP in two patients who suffered from repeated acute attacks.CONCLUSION:LT can correct the underlying metabolic abnormality in AIP and improves quality of life significantly.展开更多
BACKGROUND Acute intermittent porphyria(AIP)is a rare autosomal dominant porphyrin metabolic disease caused by a mutation in the hydroxymethylbilane synthase(HMBS)gene.This study aimed to explore the clinical manifest...BACKGROUND Acute intermittent porphyria(AIP)is a rare autosomal dominant porphyrin metabolic disease caused by a mutation in the hydroxymethylbilane synthase(HMBS)gene.This study aimed to explore the clinical manifestations of a patient with AIP,to identify a novel HMBS gene mutation in the proband and some of her family members,and to confirm the pathogenicity of the variant.CASE SUMMARY A 22-year-old Chinese woman developed severe abdominal pain,lumbago,sinus tachycardia,epileptic seizure,hypertension,and weakness in lower limbs in March,2018.Biochemical examinations indicated hypohepatia and hyponatremia.Her last menstrual period was 45 d prior to admission,and she was unaware of the pregnancy,which was confirmed by a pregnancy test after admission.Sunlight exposure of her urine sample for 1 h turned it from yellow to wine red.Urinary porphyrin test result was positive.Based on these clinical manifestations,AIP was diagnosed.After increasing her daily glucose intake(250–300 g/d),abdominal pain was partially relieved.Three days after hospitalization,spontaneous vaginal bleeding occurred,which was confirmed as spontaneous abortion;thereafter,her clinical symptoms completely resolved.Genetic testing revealed a novel heterozygous splicing variant of the HMBS gene in exon 10(c.648_651+1delCCAGG)in the proband and four other family members.The pathogenicity of the variant was verified through bioinformatic methods and a minigene assay.CONCLUSION We identified a novel HMBS gene mutation in a Chinese patient with AIP and confirmed its pathogenicity.展开更多
BACKGROUND Acute intermittent porphyria(AIP)is an inherited disorder of porphyrin metabolism with a worldwide distribution and a prevalence ranging from 1 to 9 per million population.AIP is caused by an autosomal domi...BACKGROUND Acute intermittent porphyria(AIP)is an inherited disorder of porphyrin metabolism with a worldwide distribution and a prevalence ranging from 1 to 9 per million population.AIP is caused by an autosomal dominant-inherited mutation of low penetrance resulting in a deficiency of porphobilinogen deaminase(PBGD)activity.Acute attacks are provoked by stressors such as certain medications,alcohol,and infection.We herein present the first case report of AIP detected in a post-renal transplant patient.CASE SUMMARY The patient was a 65-year-old man who underwent transplantation 2 years previously for suspected nephroangiosclerosis and chronic interstitial nephropathy.He subsequently developed diabetes mellitus which required insulin therapy.He had been treated in the recent past with local mesalamine for proctitis.He presented with classic but common symptoms of AIP including intense abdominal pain,hypertension,and anxiety.He had multiple visits to the emergency room over a 6-mo period for these same symptoms before the diagnosis of AIP was entertained.His urinary postprandial blood glucose level was 60 mg/24 h(normal,<2 mg/24 h).He was placed on a high carbohydrate diet,and his symptoms slowly improved.CONCLUSION This case report describes a common presentation of an uncommon disease,in which post-transplant complications and medications may have contributed to precipitating the previously undiagnosed AIP.We hypothesize that the lowcarbohydrate diet and insulin with which our patient was treated may have led to the attacks of AIP.Alternatively,our patient’s mesalamine treatment for proctitis may have led to an acute AIP crisis.A high index of suspicion is needed to consider the diagnosis of a heme synthesis disorder,which presents with the common symptoms of abdominal pain,high blood pressure,and anxiety.展开更多
INTRODUCTION Acute intermittent porphyria （AIP） is an autosomal dominant inborn error of metabolism caused by deficiency of porphobilinogen （PBG） deaminase, also known as hydroxymethylbilane synthase （HMBS）, the...INTRODUCTION Acute intermittent porphyria （AIP） is an autosomal dominant inborn error of metabolism caused by deficiency of porphobilinogen （PBG） deaminase, also known as hydroxymethylbilane synthase （HMBS）, the third enzyme in the heine biosynthetic pathway.展开更多
[Objectives] To investigate the clinical efficacy of intermittent levosimendan in the treatment of acute heart failure. [Methods] 100 patients diagnosed with acute heart failure and hospitalized in the internal medici...[Objectives] To investigate the clinical efficacy of intermittent levosimendan in the treatment of acute heart failure. [Methods] 100 patients diagnosed with acute heart failure and hospitalized in the internal medicine-cardiovascular department in The First People s Hospital of Yulin from January 2019 to February 2020 were randomly divided into two groups, 50 cases in each group. Both groups were treated with conventional anti-heart failure drugs. The control group was given levosimendan once, and the observation group was given levosimendan three times, with an interval of one month. The creatinine (Cr) level, serum NT proBNP, left ventricular ejection fraction (LVEF) and left ventricular end diastolic diameter (LVEDD) were observed at 48 h before and after treatment and one month and two months after treatment in both groups. [Results] Compared with before treatment, the levels of NT-proBNP decreased in the two groups at 48 h after treatment, and the difference was statistically significant ( P <0.05). The Cr level of the control group did not change significantly before and after treatment, and the Cr level of the observation group decreased at one and two months after treatment compared with before treatment, with statistically significant differences ( P <0.05). Compared with before treatment, NT-proBNP and LVEDD decreased and LVEF increased at one and two months after treatment, and the differences were statistically significant ( P <0.05). There were no obvious adverse reactions in the two groups of patients during the treatment. [Conclusions] Repetitive use of levosimendan in the treatment of acute heart failure could significantly improve the renal function, cardiac contractility and cardiac function of patients, and with the passage of time, the treatment effect was improved, which is worthy of clinical promotion.展开更多
AIM To characterize the clinical course and outcomes of nasal intermittent mandatory ventilation(NIMV) use in acute pediatric respiratory failure.METHODS We identified all patients treated with NIMV in the pediatric i...AIM To characterize the clinical course and outcomes of nasal intermittent mandatory ventilation(NIMV) use in acute pediatric respiratory failure.METHODS We identified all patients treated with NIMV in the pediatric intensive care unit(PICU) or inpatient general pediatrics between January 2013 and December 2015 at two academic centers.Patients who utilized NIMV with other modes of noninvasive ventilation during the same admission were included.Data included demographics,vital signs on admission and prior to initiation of NIMV,pediatric risk of mortality Ⅲ(PRIsM-Ⅲ) scores,complications,respiratory support characteristics,PICU and hospital length of stays,duration of respiratory support,and complications.Patients who did not require escalation to mechanical ventilation were defined as NIMV responders;those who required escalation to mechanical ventilation(MV) were defined as NIMV nonresponders.NIMV responders were compared to NIMV non-responders.RESULTS Forty-two patients met study criteria.six(14%) failed treatment and required MV.The majority of the patients(74%) had a primary diagnosis of bronchiolitis.The median age of these 42 patients was 4 mo(range 0.5-28.1 mo,IQR 7,P = 0.69).No significant difference was measured in other baseline demographics and vitals on initiation of NIMV;these included age,temperature,respiratory rate,O2 saturation,heart rate,systolic blood pressure,diastolic blood pressure,and PRIsM-Ⅲ scores.The duration of NIMV was shorter in the NIMV nonresponder vs NIMV responder group(6.5 h vs 65 h,P < 0.0005).Otherwise,NIMV failure was not associated with significant differences in PICU length of stay(LOs),hospital LOs,or total duration of respiratory support.No patients had aspiration pneumonia,pneumothorax,or skin breakdown.CONCLUSION Most of our patients responded to NIMV.NIMV failure is not associated with differences in hospital LOs,PICU LOs,or duration of respiratory support.展开更多
BACKGROUND: Viral hepatitis B accounts for over 80% of acute hepatic failures in China and the patients die mainly of its complications. A patient with hepatic failure and fever is not uncommon, whereas repeated fever...BACKGROUND: Viral hepatitis B accounts for over 80% of acute hepatic failures in China and the patients die mainly of its complications. A patient with hepatic failure and fever is not uncommon, whereas repeated fever is rare. METHODS: A 32-year-old female was diagnosed with subacute hepatic failure and hepatitis B viral infection because of hyperbilirubinemia, coagulopathy, hepatic encephalopathy, serum anti-HBs-positive without hepatitis B vaccination, and typical intrahepatic pathological features of chronic hepatitis B. Plasma exchange was administered twice and she awoke with hyperbilirubinemia and discontinuous fever. RESULTS: Urethritis was confirmed and medication-induced fever and/or spontaneous bacterial peritonitis (Gram-negative bacillus infection) was suspected. The patient was treated with antibiotics, steroids and a Chinese herbal medicine, matrine, for three months and she recovered. CONCLUSION: The survival rate of patients with hepatic failure might be improved with comprehensive supporting measures and appropriate, timely management of complications.展开更多
目的:探讨连续肾脏替代疗法治疗感染性休克引起的急性肾功能衰竭的效果。方法:纳入2020年9月—2022年9月江西省新余市中医院收治的感染性休克引起的急性肾功能衰竭患者50例,采取随机数字表法进行分组,每组25例。观察组接受连续肾脏替代...目的:探讨连续肾脏替代疗法治疗感染性休克引起的急性肾功能衰竭的效果。方法:纳入2020年9月—2022年9月江西省新余市中医院收治的感染性休克引起的急性肾功能衰竭患者50例,采取随机数字表法进行分组,每组25例。观察组接受连续肾脏替代疗法治疗,对照组接受间歇性血液透析治疗。比较两组患者治疗前与治疗后48 h肾功能指标、血气分析指标、生命体征指标、急性生理和慢性健康状况评分系统(acute physiology and chronic health evaluationⅡ,APACHEⅡ)评分、血清炎性细胞因子检测结果的变化情况以及转归情况差异。结果:治疗后48 h,观察组血清肌酐(Scr)、血尿素氮(BUN)、血清胱抑素C(CysC)检测结果均低于对照组(P<0.05),而血氧饱和度(SpO_(2))、动脉血氧分压(PaO_(2))、氧合指数(P/F)、二氧化碳结合力(CO_(2)CP)检测结果均高于对照组(P<0.05),心率(HR)检测结果及APACHEⅡ评分也低于对照组(P<0.05),平均动脉压(MAP)检测结果则高于对照组(P<0.05)。治疗后48 h,观察组血清肿瘤坏死因子α(TNF-α)、白细胞介素-6(IL-6)、降钙素原(PCT)、内毒素检测结果均低于对照组(P<0.05)。观察组死亡率为28.00%,低于对照组的56.00%(P<0.05)。结论:连续肾脏替代疗法治疗感染性休克引起的急性肾功能衰竭疗效显著,能够有效改善患者肾功能、血气分析状况、生命体征及炎症状态,降低死亡率。展开更多
文摘BACKGROUND:Acute intermittent porphyria (AIP) is the most common hepatic porphyria.Its clinical presentation includes severe disabling and life-threatening neurovisceral symptoms and acute psychiatric symptoms.These symptoms result from the overproduction and accumulation of porphyrin precursors,5-aminoleuvulinic acid (ALA) and porphobilinogen (PBG).The effect of medical treatment is transient and is not effective once irreversible neurological damage has occurred.Liver transplantation (LT) replaces hepatic enzymes and can restore normal excretion of ALA and PBG and prevent acute attacks.METHOD:Two cases of LT for AIP were identified retrospectively from a prospectively maintained LT database.RESULT:LT was successful with resolution of AIP in two patients who suffered from repeated acute attacks.CONCLUSION:LT can correct the underlying metabolic abnormality in AIP and improves quality of life significantly.
文摘BACKGROUND Acute intermittent porphyria(AIP)is a rare autosomal dominant porphyrin metabolic disease caused by a mutation in the hydroxymethylbilane synthase(HMBS)gene.This study aimed to explore the clinical manifestations of a patient with AIP,to identify a novel HMBS gene mutation in the proband and some of her family members,and to confirm the pathogenicity of the variant.CASE SUMMARY A 22-year-old Chinese woman developed severe abdominal pain,lumbago,sinus tachycardia,epileptic seizure,hypertension,and weakness in lower limbs in March,2018.Biochemical examinations indicated hypohepatia and hyponatremia.Her last menstrual period was 45 d prior to admission,and she was unaware of the pregnancy,which was confirmed by a pregnancy test after admission.Sunlight exposure of her urine sample for 1 h turned it from yellow to wine red.Urinary porphyrin test result was positive.Based on these clinical manifestations,AIP was diagnosed.After increasing her daily glucose intake(250–300 g/d),abdominal pain was partially relieved.Three days after hospitalization,spontaneous vaginal bleeding occurred,which was confirmed as spontaneous abortion;thereafter,her clinical symptoms completely resolved.Genetic testing revealed a novel heterozygous splicing variant of the HMBS gene in exon 10(c.648_651+1delCCAGG)in the proband and four other family members.The pathogenicity of the variant was verified through bioinformatic methods and a minigene assay.CONCLUSION We identified a novel HMBS gene mutation in a Chinese patient with AIP and confirmed its pathogenicity.
文摘BACKGROUND Acute intermittent porphyria(AIP)is an inherited disorder of porphyrin metabolism with a worldwide distribution and a prevalence ranging from 1 to 9 per million population.AIP is caused by an autosomal dominant-inherited mutation of low penetrance resulting in a deficiency of porphobilinogen deaminase(PBGD)activity.Acute attacks are provoked by stressors such as certain medications,alcohol,and infection.We herein present the first case report of AIP detected in a post-renal transplant patient.CASE SUMMARY The patient was a 65-year-old man who underwent transplantation 2 years previously for suspected nephroangiosclerosis and chronic interstitial nephropathy.He subsequently developed diabetes mellitus which required insulin therapy.He had been treated in the recent past with local mesalamine for proctitis.He presented with classic but common symptoms of AIP including intense abdominal pain,hypertension,and anxiety.He had multiple visits to the emergency room over a 6-mo period for these same symptoms before the diagnosis of AIP was entertained.His urinary postprandial blood glucose level was 60 mg/24 h(normal,<2 mg/24 h).He was placed on a high carbohydrate diet,and his symptoms slowly improved.CONCLUSION This case report describes a common presentation of an uncommon disease,in which post-transplant complications and medications may have contributed to precipitating the previously undiagnosed AIP.We hypothesize that the lowcarbohydrate diet and insulin with which our patient was treated may have led to the attacks of AIP.Alternatively,our patient’s mesalamine treatment for proctitis may have led to an acute AIP crisis.A high index of suspicion is needed to consider the diagnosis of a heme synthesis disorder,which presents with the common symptoms of abdominal pain,high blood pressure,and anxiety.
文摘INTRODUCTION Acute intermittent porphyria （AIP） is an autosomal dominant inborn error of metabolism caused by deficiency of porphobilinogen （PBG） deaminase, also known as hydroxymethylbilane synthase （HMBS）, the third enzyme in the heine biosynthetic pathway.
基金Supported by Scientific Research and Technology Development Program of Yulin City(20204031).
文摘[Objectives] To investigate the clinical efficacy of intermittent levosimendan in the treatment of acute heart failure. [Methods] 100 patients diagnosed with acute heart failure and hospitalized in the internal medicine-cardiovascular department in The First People s Hospital of Yulin from January 2019 to February 2020 were randomly divided into two groups, 50 cases in each group. Both groups were treated with conventional anti-heart failure drugs. The control group was given levosimendan once, and the observation group was given levosimendan three times, with an interval of one month. The creatinine (Cr) level, serum NT proBNP, left ventricular ejection fraction (LVEF) and left ventricular end diastolic diameter (LVEDD) were observed at 48 h before and after treatment and one month and two months after treatment in both groups. [Results] Compared with before treatment, the levels of NT-proBNP decreased in the two groups at 48 h after treatment, and the difference was statistically significant ( P <0.05). The Cr level of the control group did not change significantly before and after treatment, and the Cr level of the observation group decreased at one and two months after treatment compared with before treatment, with statistically significant differences ( P <0.05). Compared with before treatment, NT-proBNP and LVEDD decreased and LVEF increased at one and two months after treatment, and the differences were statistically significant ( P <0.05). There were no obvious adverse reactions in the two groups of patients during the treatment. [Conclusions] Repetitive use of levosimendan in the treatment of acute heart failure could significantly improve the renal function, cardiac contractility and cardiac function of patients, and with the passage of time, the treatment effect was improved, which is worthy of clinical promotion.
基金supported by NIH National Center for Advancing Translational Science,No.UL1TR001881
文摘AIM To characterize the clinical course and outcomes of nasal intermittent mandatory ventilation(NIMV) use in acute pediatric respiratory failure.METHODS We identified all patients treated with NIMV in the pediatric intensive care unit(PICU) or inpatient general pediatrics between January 2013 and December 2015 at two academic centers.Patients who utilized NIMV with other modes of noninvasive ventilation during the same admission were included.Data included demographics,vital signs on admission and prior to initiation of NIMV,pediatric risk of mortality Ⅲ(PRIsM-Ⅲ) scores,complications,respiratory support characteristics,PICU and hospital length of stays,duration of respiratory support,and complications.Patients who did not require escalation to mechanical ventilation were defined as NIMV responders;those who required escalation to mechanical ventilation(MV) were defined as NIMV nonresponders.NIMV responders were compared to NIMV non-responders.RESULTS Forty-two patients met study criteria.six(14%) failed treatment and required MV.The majority of the patients(74%) had a primary diagnosis of bronchiolitis.The median age of these 42 patients was 4 mo(range 0.5-28.1 mo,IQR 7,P = 0.69).No significant difference was measured in other baseline demographics and vitals on initiation of NIMV;these included age,temperature,respiratory rate,O2 saturation,heart rate,systolic blood pressure,diastolic blood pressure,and PRIsM-Ⅲ scores.The duration of NIMV was shorter in the NIMV nonresponder vs NIMV responder group(6.5 h vs 65 h,P < 0.0005).Otherwise,NIMV failure was not associated with significant differences in PICU length of stay(LOs),hospital LOs,or total duration of respiratory support.No patients had aspiration pneumonia,pneumothorax,or skin breakdown.CONCLUSION Most of our patients responded to NIMV.NIMV failure is not associated with differences in hospital LOs,PICU LOs,or duration of respiratory support.
基金supported by grants from the EleventhFive-year Key Program(07Z007-A)the 122 Training Planof the Department of Health,Nanjing Military Area(122-1A)
文摘BACKGROUND: Viral hepatitis B accounts for over 80% of acute hepatic failures in China and the patients die mainly of its complications. A patient with hepatic failure and fever is not uncommon, whereas repeated fever is rare. METHODS: A 32-year-old female was diagnosed with subacute hepatic failure and hepatitis B viral infection because of hyperbilirubinemia, coagulopathy, hepatic encephalopathy, serum anti-HBs-positive without hepatitis B vaccination, and typical intrahepatic pathological features of chronic hepatitis B. Plasma exchange was administered twice and she awoke with hyperbilirubinemia and discontinuous fever. RESULTS: Urethritis was confirmed and medication-induced fever and/or spontaneous bacterial peritonitis (Gram-negative bacillus infection) was suspected. The patient was treated with antibiotics, steroids and a Chinese herbal medicine, matrine, for three months and she recovered. CONCLUSION: The survival rate of patients with hepatic failure might be improved with comprehensive supporting measures and appropriate, timely management of complications.
文摘目的:探讨连续肾脏替代疗法治疗感染性休克引起的急性肾功能衰竭的效果。方法:纳入2020年9月—2022年9月江西省新余市中医院收治的感染性休克引起的急性肾功能衰竭患者50例,采取随机数字表法进行分组,每组25例。观察组接受连续肾脏替代疗法治疗,对照组接受间歇性血液透析治疗。比较两组患者治疗前与治疗后48 h肾功能指标、血气分析指标、生命体征指标、急性生理和慢性健康状况评分系统(acute physiology and chronic health evaluationⅡ,APACHEⅡ)评分、血清炎性细胞因子检测结果的变化情况以及转归情况差异。结果:治疗后48 h,观察组血清肌酐(Scr)、血尿素氮(BUN)、血清胱抑素C(CysC)检测结果均低于对照组(P<0.05),而血氧饱和度(SpO_(2))、动脉血氧分压(PaO_(2))、氧合指数(P/F)、二氧化碳结合力(CO_(2)CP)检测结果均高于对照组(P<0.05),心率(HR)检测结果及APACHEⅡ评分也低于对照组(P<0.05),平均动脉压(MAP)检测结果则高于对照组(P<0.05)。治疗后48 h,观察组血清肿瘤坏死因子α(TNF-α)、白细胞介素-6(IL-6)、降钙素原(PCT)、内毒素检测结果均低于对照组(P<0.05)。观察组死亡率为28.00%,低于对照组的56.00%(P<0.05)。结论:连续肾脏替代疗法治疗感染性休克引起的急性肾功能衰竭疗效显著,能够有效改善患者肾功能、血气分析状况、生命体征及炎症状态,降低死亡率。
