AIM: To investigate mutation of serine protease 1-cationic trypsinogen (CT, PRSS1) gene in members of a Thai family with hereditary pancreatitis and pancreatic cancer. METHODS: Polymerase chain reaction and direct seq...AIM: To investigate mutation of serine protease 1-cationic trypsinogen (CT, PRSS1) gene in members of a Thai family with hereditary pancreatitis and pancreatic cancer. METHODS: Polymerase chain reaction and direct sequencing were performed to analyze the PRSS1 gene in two members of the family affected by pancreatitis. Allele specific amplification (ASA) method was then developed to detect the mutation of the PRSS1 gene in all available members of the family and normal control subjects. RESULTS: A cytosine (C) to thymine (T) mutation at position 2441 (g.2441C>T) of the PRSS1 gene, which results in a substitution of arginine by cysteine at position 116 (R116C) of CT, was identified by direct sequencing in both clinically affected members of the family but was not found in the unaffected member. This mutation, which might be arising from deamination of methylated cytosine in CpG dinucleotide of codon 116 (CGT>TGT), was also detected by the ASA method in the two affected members and a proband's brother but was not observed in unaffected members and 54 normal control subjects. CONCLUSION: Autosomal dominant pancreatitis with increased cancer risk in the studied Thai family is most likely due to missense (R116C) mutation in the PRSS1 gene.展开更多
BACKGROUND Patients with hepatitis C virus(HCV) and hepatocellular carcinoma(HCC) may or not develop iron overload(IO),which is associated with worst prognosis,because can cause serious damage to organs.HFE gene contr...BACKGROUND Patients with hepatitis C virus(HCV) and hepatocellular carcinoma(HCC) may or not develop iron overload(IO),which is associated with worst prognosis,because can cause serious damage to organs.HFE gene controls the iron uptake from gut,particularly in patients with hereditary hemochromatosis(HH).AIM To identify associations between HFE coding region in patients exhibiting hereditary hemochromatosis and in diseases associated with acquired IO.METHODS We sequenced exons 2 to 5 and boundary introns of HFE gene,evaluating all polymorphic sites in patients presenting hereditary(hemochromatosis) or acquired iron overload HCV and HCC) and in healthy controls,using Sanger sequencing.We also determined the ensemble of extended haplotype in healthy control individuals,including several major histocompatibility complex loci,using sequence specific probes.Haplotype reconstruction was performed using the Arlequin and Phase softwares,and linkage disequilibrium(LD) between histocompatibility loci and HFE gene was performed using the Haploview software.RESULTS The HFE*003 allele was overrepresented(f = 71%) and HFE*001 allele was underrepresented(f = 14%) in HH patients compared to all groups.A strong linkage disequilibrium was observed among the H63 D-G,IVS2(+4)-C and C282 YG gene variants,particularly in HH;however,the mutation IVS2(+4)T>C was not directly associated with HH susceptibility.The HFE*001/HFE*002 genotype conferred susceptibility to HCC in HCV patients exhibiting IO(P = 0.02,OR =14.14).Although HFE is telomeric to other histocompatibility genes,the H63 DG/IVS2(+4)-C(P ≤ 0.00001/P ≤ 0.0057) combination was in LD with HLA-B*44 allele group in healthy controls.No LD was observed between HFE alleles and other major histocompatibility loci.CONCLUSION A differential HFE association was observed for HH and for diseases associated with acquired IO(HCV,HCC).Since HFE is very distant from other histocompatibility loci,only weak associations were observed with these alleles.展开更多
AIM：To analyze the influences of different genotypes（G11778A,T14484 C and G3460A） of Leber hereditary optic neuropathy（LHON） on visual prognosis. METHODS： After a systematic literature search,all relevant studie...AIM：To analyze the influences of different genotypes（G11778A,T14484 C and G3460A） of Leber hereditary optic neuropathy（LHON） on visual prognosis. METHODS： After a systematic literature search,all relevant studies evaluating the association between the three primary mutations of LHON and visual prognosis were included.All statistical tests were calculated with Revman 5.2 and STATA 12.0. RESULTS： Ten independent studies were included finally.A significant association between the three primary mutations and prognostic vision over 0.3 were found in G11778 A versus T14484 C [odds ratio（OR） =0.10,95% confidence interval（CI） =0.05-0.17,P 〈0.001],G11778 A versus G3460A（OR=0.18,95%CI=0.09-0.37,P 〈0.001） and T14484 C versus G3460A（OR =2.45,95% CI =1.10-5.48,P 〈0.05）.In addition,obtained by pairwise comparison,the vision during onset,age of onset and sex ratio of these three kinds of patients,have no statistical significance（P 〉0.05）.CONCLUSION： From pairwise comparison,we conclude that these three different genotypes of LHON are related to patients＇ visual prognosis.The T14484 C patients might have a best prognostic vision,G3460 A second,and G11778 A worst.And there is little relation between the three different genotypes and patients＇ vision,age of onset and sex ratio.展开更多
Hereditary angioedema （HAE） is an autosomal dominant condition that affects one in about 50 000 persons, characterized by recurrent episodes of subcutaneous or submucosal swelling involving the hands, feet, limbs, f...Hereditary angioedema （HAE） is an autosomal dominant condition that affects one in about 50 000 persons, characterized by recurrent episodes of subcutaneous or submucosal swelling involving the hands, feet, limbs, face, intestinal tract, even larynx and trachea.展开更多
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
Deleterious mutations in the RUNX1 gene cause hereditary leukemia due to a rare syndrome called Familial platelet Disorder with Associated Myeloid Malignancy (FPDMM). We describe the characteristics of a family with F...Deleterious mutations in the RUNX1 gene cause hereditary leukemia due to a rare syndrome called Familial platelet Disorder with Associated Myeloid Malignancy (FPDMM). We describe the characteristics of a family with FPDMM due to a novel RUNX1 mutation (L472X), located in the most 3-prime end of the gene reported to date. Our 36-year-old proband presented with incidentally detected thrombocytopenia and a family history suggestive of FPDMM. Contrary to previously described families, affected members of our kindred express an eczematous phenotype, reportedly most severe in members who develop leukemia. Pedigree analysis shows that the L472X mutation tracks with thrombocytopenia, acute leukemia, and eczema. The L472X mutation produces a stably expressed RUNX1 protein product with a corresponding decrease in wild type RUNX1 expression. Our data supports the inclusion of eczema in the FPDMM phenotype and suggests the possibility that the RUNX1 L472X mutant causes the type of dominant negative affect that is associated with an elevated risk of leukemia in FPDMM families.展开更多
A pregnant woman diagnosed with type 1 angioedema seeks care at a public hospital for planning the delivery. This report presents ways to prevent and manage an acute HAE crisis during childbirth and early postpartum w...A pregnant woman diagnosed with type 1 angioedema seeks care at a public hospital for planning the delivery. This report presents ways to prevent and manage an acute HAE crisis during childbirth and early postpartum without the availability of first-line medications, such as plasma-derived human C1-INH concentrate.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
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
AIM: To assess the prevalence of the two mutations, C282Y and H63D of HFE gene, in healthy subjects, patients with chronic hepatitis C (CHC), and patients with nonalcoholic fatty liver disease (NAFLD) in Taiwan and to...AIM: To assess the prevalence of the two mutations, C282Y and H63D of HFE gene, in healthy subjects, patients with chronic hepatitis C (CHC), and patients with nonalcoholic fatty liver disease (NAFLD) in Taiwan and to explore the contribution of the HFE mutation on serum iron stores in CHC and NAFLD groups.METHODS: We examined C282Y and H63D mutations of HFE gene in 125 healthy subjects, 29 patients with CHC,and 33 patients with NAFLD. The serum iron markers,including ferritin, iron, and total iron binding capacity (TIBC),were assessed in all patients.RESULTS: All of the healthy subjects and patients were free from C282Y mutation. The prevalence of H63D heterozygosity was 4/125 (3.20%) in healthy subjects, 2/29(6.90%) in CHC group, and 1/33 (3.03%) in NAFLD group.The healthy subjects showed no significant difference in the prevalence of H63D mutation as compared with the CHC or NAFLD group. Increased serum iron store was found in 34.48% of CHC patients and 36.36% of NAFLD patients.In three patients of H63D heterozygosity, only one CHC patient had increased serum iron store. There was no significant difference in the prevalence of HFE mutations between patients with increased serum iron store and those without in CHC or NAFLD group.CONCLUSION: The HFE mutations may not contribute to iron accumulation in the CHC or NAFLD group even when serum iron overload is observed in more than one-third of these patients in Taiwan.展开更多
Distinct from hereditary haemochromatosis, hepatic iron overload is a common finding in several chronic liver diseases. Many studies have investigated the prevalence, distribution and possible contributory role of exc...Distinct from hereditary haemochromatosis, hepatic iron overload is a common finding in several chronic liver diseases. Many studies have investigated the prevalence, distribution and possible contributory role of excess hepatic iron in non-haemochromatotic chronic liver diseases. Indeed, some authors have proposed iron removal in liver diseases other than hereditary haemochromatosis. However, the pathogenesis of secondary iron overload remains unclear. The High Fe （HFE） gene has been implicated, but the reported data are controversial. In this article, we summarise current concepts regarding the cellular role of the HFE protein in iron homeostasis. We review the current status of the literature regarding the prevalence, hepatic distribution and possible therapeutic implications of iron overload in chronic hepatitis C, hepatitis B, alcoholic and non- alcoholic fatty liver diseases and porphyria cutanea tarda. We discuss the evidence regarding the role of HFE gene mutations in these liver diseases. Finally, we summarize the common and specific features of iron overload in liver diseases other than haemochromatosis.展开更多
Abdominal involvement in angioedema is often a challenge to diagnose.Acute onset abdominal pain is its most common presenting symptom,and misdiagnosis may lead to unnecessary surgical intervention.Familiarity with the...Abdominal involvement in angioedema is often a challenge to diagnose.Acute onset abdominal pain is its most common presenting symptom,and misdiagnosis may lead to unnecessary surgical intervention.Familiarity with the types and presentations of angioedema can be invaluable to clinicians as they consider the differential diagnoses of a patient presenting with abdominal pain. Detailed personal and family histories,careful physical examination of the patient,combined with knowledge of angioedema types,can help clinicians perform their diagnostic evaluation.An accurate diagnosis is essential in order to provide appropriate treatment to patients with angioedema.Depending upon the diagnosis,treatment may be the avoidance of provoking factors(such as allergens or medications),inhibiting histamine-provoked reactions,or treating C1 esterase inhibitor deficiency.展开更多
Combined liver and kidney transplantation(CLKT)is indicated in patients with failure of both organs,or for the treatment of end-stage chronic kidney disease(ESKD)caused by a genetic defect in the liver.The aim of the ...Combined liver and kidney transplantation(CLKT)is indicated in patients with failure of both organs,or for the treatment of end-stage chronic kidney disease(ESKD)caused by a genetic defect in the liver.The aim of the present review is to provide the most up-to-date overview of the rare conditions as indications for CLKT.They are major indications for CLKT in children.However,in some of them(e.g.,atypical hemolytic uremic syndrome or primary hyperoxaluria),CLKT may be required in adults as well.Primary hyperoxaluria is divided into three types,of which type 1 and 2 lead to ESKD.CLKT has been proven effective in renal function replacement,at the same time preventing recurrence of the disease.Nephronophthisis is associated with liver fibrosis in 5%of cases and these patients are candidates for CLKT.In alpha 1-antitrypsin deficiency,hereditary C3 deficiency,lecithin cholesterol acyltransferase deficiency and glycogen storage diseases,glomerular or tubulointerstitial disease can lead to chronic kidney disease.Liver transplantation as a part of CLKT corrects underlying genetic and consequent metabolic abnormality.In atypical hemolytic uremic syndrome caused by mutations in the genes for factor H,successful CLKT has been reported in a small number of patients.However,for this indication,CLKT has been largely replaced by eculizumab,an anti-C5 antibody.CLKT has been well established to provide immune protection of the transplanted kidney against donor-specific antibodies against class I HLA,facilitating transplantation in a highly sensitized recipient.展开更多
文摘AIM: To investigate mutation of serine protease 1-cationic trypsinogen (CT, PRSS1) gene in members of a Thai family with hereditary pancreatitis and pancreatic cancer. METHODS: Polymerase chain reaction and direct sequencing were performed to analyze the PRSS1 gene in two members of the family affected by pancreatitis. Allele specific amplification (ASA) method was then developed to detect the mutation of the PRSS1 gene in all available members of the family and normal control subjects. RESULTS: A cytosine (C) to thymine (T) mutation at position 2441 (g.2441C>T) of the PRSS1 gene, which results in a substitution of arginine by cysteine at position 116 (R116C) of CT, was identified by direct sequencing in both clinically affected members of the family but was not found in the unaffected member. This mutation, which might be arising from deamination of methylated cytosine in CpG dinucleotide of codon 116 (CGT>TGT), was also detected by the ASA method in the two affected members and a proband's brother but was not observed in unaffected members and 54 normal control subjects. CONCLUSION: Autosomal dominant pancreatitis with increased cancer risk in the studied Thai family is most likely due to missense (R116C) mutation in the PRSS1 gene.
基金"Conselho Nacional de Desenvolvimento Cientifico e Tecnologico"(CNPq,Brazil),No.304931/2014-1 and No.148638/2010-4
文摘BACKGROUND Patients with hepatitis C virus(HCV) and hepatocellular carcinoma(HCC) may or not develop iron overload(IO),which is associated with worst prognosis,because can cause serious damage to organs.HFE gene controls the iron uptake from gut,particularly in patients with hereditary hemochromatosis(HH).AIM To identify associations between HFE coding region in patients exhibiting hereditary hemochromatosis and in diseases associated with acquired IO.METHODS We sequenced exons 2 to 5 and boundary introns of HFE gene,evaluating all polymorphic sites in patients presenting hereditary(hemochromatosis) or acquired iron overload HCV and HCC) and in healthy controls,using Sanger sequencing.We also determined the ensemble of extended haplotype in healthy control individuals,including several major histocompatibility complex loci,using sequence specific probes.Haplotype reconstruction was performed using the Arlequin and Phase softwares,and linkage disequilibrium(LD) between histocompatibility loci and HFE gene was performed using the Haploview software.RESULTS The HFE*003 allele was overrepresented(f = 71%) and HFE*001 allele was underrepresented(f = 14%) in HH patients compared to all groups.A strong linkage disequilibrium was observed among the H63 D-G,IVS2(+4)-C and C282 YG gene variants,particularly in HH;however,the mutation IVS2(+4)T>C was not directly associated with HH susceptibility.The HFE*001/HFE*002 genotype conferred susceptibility to HCC in HCV patients exhibiting IO(P = 0.02,OR =14.14).Although HFE is telomeric to other histocompatibility genes,the H63 DG/IVS2(+4)-C(P ≤ 0.00001/P ≤ 0.0057) combination was in LD with HLA-B*44 allele group in healthy controls.No LD was observed between HFE alleles and other major histocompatibility loci.CONCLUSION A differential HFE association was observed for HH and for diseases associated with acquired IO(HCV,HCC).Since HFE is very distant from other histocompatibility loci,only weak associations were observed with these alleles.
文摘AIM：To analyze the influences of different genotypes（G11778A,T14484 C and G3460A） of Leber hereditary optic neuropathy（LHON） on visual prognosis. METHODS： After a systematic literature search,all relevant studies evaluating the association between the three primary mutations of LHON and visual prognosis were included.All statistical tests were calculated with Revman 5.2 and STATA 12.0. RESULTS： Ten independent studies were included finally.A significant association between the three primary mutations and prognostic vision over 0.3 were found in G11778 A versus T14484 C [odds ratio（OR） =0.10,95% confidence interval（CI） =0.05-0.17,P 〈0.001],G11778 A versus G3460A（OR=0.18,95%CI=0.09-0.37,P 〈0.001） and T14484 C versus G3460A（OR =2.45,95% CI =1.10-5.48,P 〈0.05）.In addition,obtained by pairwise comparison,the vision during onset,age of onset and sex ratio of these three kinds of patients,have no statistical significance（P 〉0.05）.CONCLUSION： From pairwise comparison,we conclude that these three different genotypes of LHON are related to patients＇ visual prognosis.The T14484 C patients might have a best prognostic vision,G3460 A second,and G11778 A worst.And there is little relation between the three different genotypes and patients＇ vision,age of onset and sex ratio.
文摘Hereditary angioedema （HAE） is an autosomal dominant condition that affects one in about 50 000 persons, characterized by recurrent episodes of subcutaneous or submucosal swelling involving the hands, feet, limbs, face, intestinal tract, even larynx and trachea.
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Deleterious mutations in the RUNX1 gene cause hereditary leukemia due to a rare syndrome called Familial platelet Disorder with Associated Myeloid Malignancy (FPDMM). We describe the characteristics of a family with FPDMM due to a novel RUNX1 mutation (L472X), located in the most 3-prime end of the gene reported to date. Our 36-year-old proband presented with incidentally detected thrombocytopenia and a family history suggestive of FPDMM. Contrary to previously described families, affected members of our kindred express an eczematous phenotype, reportedly most severe in members who develop leukemia. Pedigree analysis shows that the L472X mutation tracks with thrombocytopenia, acute leukemia, and eczema. The L472X mutation produces a stably expressed RUNX1 protein product with a corresponding decrease in wild type RUNX1 expression. Our data supports the inclusion of eczema in the FPDMM phenotype and suggests the possibility that the RUNX1 L472X mutant causes the type of dominant negative affect that is associated with an elevated risk of leukemia in FPDMM families.
文摘A pregnant woman diagnosed with type 1 angioedema seeks care at a public hospital for planning the delivery. This report presents ways to prevent and manage an acute HAE crisis during childbirth and early postpartum without the availability of first-line medications, such as plasma-derived human C1-INH concentrate.
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.
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。
文摘AIM: To assess the prevalence of the two mutations, C282Y and H63D of HFE gene, in healthy subjects, patients with chronic hepatitis C (CHC), and patients with nonalcoholic fatty liver disease (NAFLD) in Taiwan and to explore the contribution of the HFE mutation on serum iron stores in CHC and NAFLD groups.METHODS: We examined C282Y and H63D mutations of HFE gene in 125 healthy subjects, 29 patients with CHC,and 33 patients with NAFLD. The serum iron markers,including ferritin, iron, and total iron binding capacity (TIBC),were assessed in all patients.RESULTS: All of the healthy subjects and patients were free from C282Y mutation. The prevalence of H63D heterozygosity was 4/125 (3.20%) in healthy subjects, 2/29(6.90%) in CHC group, and 1/33 (3.03%) in NAFLD group.The healthy subjects showed no significant difference in the prevalence of H63D mutation as compared with the CHC or NAFLD group. Increased serum iron store was found in 34.48% of CHC patients and 36.36% of NAFLD patients.In three patients of H63D heterozygosity, only one CHC patient had increased serum iron store. There was no significant difference in the prevalence of HFE mutations between patients with increased serum iron store and those without in CHC or NAFLD group.CONCLUSION: The HFE mutations may not contribute to iron accumulation in the CHC or NAFLD group even when serum iron overload is observed in more than one-third of these patients in Taiwan.
文摘Distinct from hereditary haemochromatosis, hepatic iron overload is a common finding in several chronic liver diseases. Many studies have investigated the prevalence, distribution and possible contributory role of excess hepatic iron in non-haemochromatotic chronic liver diseases. Indeed, some authors have proposed iron removal in liver diseases other than hereditary haemochromatosis. However, the pathogenesis of secondary iron overload remains unclear. The High Fe （HFE） gene has been implicated, but the reported data are controversial. In this article, we summarise current concepts regarding the cellular role of the HFE protein in iron homeostasis. We review the current status of the literature regarding the prevalence, hepatic distribution and possible therapeutic implications of iron overload in chronic hepatitis C, hepatitis B, alcoholic and non- alcoholic fatty liver diseases and porphyria cutanea tarda. We discuss the evidence regarding the role of HFE gene mutations in these liver diseases. Finally, we summarize the common and specific features of iron overload in liver diseases other than haemochromatosis.
文摘Abdominal involvement in angioedema is often a challenge to diagnose.Acute onset abdominal pain is its most common presenting symptom,and misdiagnosis may lead to unnecessary surgical intervention.Familiarity with the types and presentations of angioedema can be invaluable to clinicians as they consider the differential diagnoses of a patient presenting with abdominal pain. Detailed personal and family histories,careful physical examination of the patient,combined with knowledge of angioedema types,can help clinicians perform their diagnostic evaluation.An accurate diagnosis is essential in order to provide appropriate treatment to patients with angioedema.Depending upon the diagnosis,treatment may be the avoidance of provoking factors(such as allergens or medications),inhibiting histamine-provoked reactions,or treating C1 esterase inhibitor deficiency.
文摘Combined liver and kidney transplantation(CLKT)is indicated in patients with failure of both organs,or for the treatment of end-stage chronic kidney disease(ESKD)caused by a genetic defect in the liver.The aim of the present review is to provide the most up-to-date overview of the rare conditions as indications for CLKT.They are major indications for CLKT in children.However,in some of them(e.g.,atypical hemolytic uremic syndrome or primary hyperoxaluria),CLKT may be required in adults as well.Primary hyperoxaluria is divided into three types,of which type 1 and 2 lead to ESKD.CLKT has been proven effective in renal function replacement,at the same time preventing recurrence of the disease.Nephronophthisis is associated with liver fibrosis in 5%of cases and these patients are candidates for CLKT.In alpha 1-antitrypsin deficiency,hereditary C3 deficiency,lecithin cholesterol acyltransferase deficiency and glycogen storage diseases,glomerular or tubulointerstitial disease can lead to chronic kidney disease.Liver transplantation as a part of CLKT corrects underlying genetic and consequent metabolic abnormality.In atypical hemolytic uremic syndrome caused by mutations in the genes for factor H,successful CLKT has been reported in a small number of patients.However,for this indication,CLKT has been largely replaced by eculizumab,an anti-C5 antibody.CLKT has been well established to provide immune protection of the transplanted kidney against donor-specific antibodies against class I HLA,facilitating transplantation in a highly sensitized recipient.
