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We report a 5-year-old boy with a 5-month history of symptoms owing to chronic pancreatitis. Abdominal imaging revealed a large pseudocyst in the pancreatic tail and concretions in the main pancreatic duct. Successful endoscopic papillotomy and stent implantation were performed. Genetic testing showed homozygous SPINK1-N34S mutation, which is an established risk factor for chronic pancreatitis.  相似文献   

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Hereditary angio‐oedema (HAE) results from the deficiency of C1‐esterase inhibitor (C1‐INH). The clinical picture of this autosomal dominant disorder is characterized by recurrent attacks of subcutaneous oedema and/or potentially life‐threatening swelling of the submucosa. This review discusses the authors' decade‐long experience obtained in the treatment and follow‐up of pediatric patients with HAE. Twenty‐six children with HAE were reviewed. Pedigree analysis was performed in all cases to identify afflicted relatives. C1‐INH concentrate was reserved for the emergency treatment of acute oedematous attacks, whereas tranexamic acid and danazol were administered for short‐ or long‐term prophylaxis. Follow‐up care included laboratory tests and abdominal ultrasound, which was repeated at regular intervals. Twenty‐one children had Type I HAE and five suffered from Type II HAE. Clinical manifestations of the disease first occured in children when 2.5–12 years of age. Oedema formation primarily afflicted subcutaneous tissues. Mechanical trauma was identified as a precipitating factor in 20 patients. Pedigree analysis revealed 24 patients with relatives who suffered from HAE. Long‐term prophylaxis with tranexamic acid or danazol was initiated in 11 patients; two children required short‐term prophylaxis. No drug‐related adverse effects were observed, except for one case of delayed menarche. Therapy improved serum complement parameters significantly and substantially reduced the frequency and severity of clinical episodes. Adequate prophylaxis and follow‐up care can spare pediatric patients from oedematous attacks caused by HAE. Undesirable adverse effects can be avoided and the patient's quality of life enhanced considerably by administering the lowest effective drug dose.  相似文献   

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Presently, medications approved for children with Hereditary Angioedema (HAE) are extremely limited. This is especially the case for children under 12 years of age. For this reason we reviewed and summarized the data on treatment of children with HAE. Available data indicate that plasma derived C1‐inhibitor is a safe, effective treatment option for HAE in pediatric patients, including those below 12 years of age. Other therapies are also appear safe for the under 12 year of age, but less data are available. Importantly, home‐based treatment of HAE in this age group appears to be safe and effective and can improve quality of life. These findings support current HAE consensus guidelines which strongly recommend the use of plasma derived C1‐inhibitor as a first‐line treatment in children and encourage home and self‐treatment.  相似文献   

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目的了解穿孔素基因(PRF1)突变和序列变异在中国儿童噬血细胞综合征(HLH)中的发生情况,探讨基因突变型与临床表现之间可能的关系。方法应用聚合酶链反应(PCR)结合直接测序方法,对2006年1月至2008年5月在首都医科大学附属北京儿童医院治疗的临床诊断为HLH的30例患儿(HLH组)及50名新生儿(对照组)PRF1基因外显子编码区进行突变筛查。结果在3例HLH患儿的PRF1基因外显子编码区发现3个杂合错义突变,这3个突变均导致氨基酸改变(C102F、S108N和T450M),而在对照组中却未发现。1例患儿为复合杂合错义突变(S108N和T450M),从遗传学上可明确诊断为家族性HLH亚型2(FHL2);1个同义序列变异(Q540Q)在1例患儿中发现,而在对照组中未发现;在HLH组和对照组的PRF1基因编码区发现2个单核苷酸多态位点(SNP)(A274A、H300H),但这2个SNP的基因型频率在HLH组和对照组之间的分布差异无统计学意义(P均>0.05)。结论我国HLH患儿中存在PRF1基因突变,而突变位点(C102F和S108N)目前仅在中国患儿中发现。显示了我国HLH患儿PRF1基因突变具有自身的特点...  相似文献   

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目的探讨中国人尼曼-匹克病(NPD)家系发病的分子遗传学基础及SMPD1基因检测在中国人NPD家系基因诊断中的意义。方法收集3个无关的NPD家系的临床资料和血液标本,同时选取20例健康儿童的血液标本。从外周血提取基因组DNA,经聚合酶链反应(PCR)依次扩增3个家系中所有成员SMPD1基因的6个编码外显子及其侧翼内含子序列,扩增产物纯化后直接进行正反向测序,并与Genebank进行比对;将发现突变所在外显子的扩增产物通过TA克隆技术进一步证实突变的实际意义。结果家系1先证者为T107C的纯合突变,其父母均为T107C的杂合突变;家系2和家系3的所有成员均发现在SMPD1基因外显子1上有连续6个碱基缺失,即在编码序列第108碱基至第113碱基GCTGGC的缺失(c.108-113del GCTGGC),且均为纯合突变。进一步应用TA克隆技术检测,家系2和家系3的所有成员随机挑选的单克隆测序结果均存在该突变c.108-113del GCTGGC。对20个正常对照的PCR扩增产物进行直接正反向测序,均未见以上突变。结论 SMPD1基因第1外显子上T107C的纯合突变为家系1先证者发病的分子遗传学基础,其父母是表型正常的基因突变携带者。家系2和家系3所有成员均发现在SMPD1基因第1外显子上存在c.108-113del GCTGGC的纯合突变,考虑为人类基因多态性。  相似文献   

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