Pelvic osteotomy is commonly used to adjust acetabula dysplasia for congenital dislocation of the hip, whereas congenital insensitivity to pain with anhidrosis(CIPA) is a rare hereditary disease that often has the cha...Pelvic osteotomy is commonly used to adjust acetabula dysplasia for congenital dislocation of the hip, whereas congenital insensitivity to pain with anhidrosis(CIPA) is a rare hereditary disease that often has the characteristics of joint development deformity and easy fracture. This article reports the case involving a CIPA patient who was surgically treated by Chiari pelvic osteotomy and proximal femoral rotation osteotomy for congenital dislocation of the left hip joint and was provided long-term follow-up for redislocation and bilateral femoral head absorption.展开更多
Congenital insensitivity to pain and anhidrosis (CIPA) is a rare form of hereditary sensory and autonomic neuropathy. It is characterized by impaired perception of pain and temperature, anhidrosis and intellectual dis...Congenital insensitivity to pain and anhidrosis (CIPA) is a rare form of hereditary sensory and autonomic neuropathy. It is characterized by impaired perception of pain and temperature, anhidrosis and intellectual disability. Self mutilating behaviors lead to accidental injuries. The limb lesions are often infected and frequently progress to chronic osteomyelitis. In pediatrics, amyloidosis usually occurs secondary to chronic inflammatory diseases. The coexistence of amyloidosis and CIPA has not previously been reported in literature. A CIPA case complicated with nephrotic syndrome and renal amyloidosis following chronic osteomyelitis is presented here. This report emphasizes the importance of close follow-up of patients by urine analysis for the risk of developing amyloidosis particularly in the presence of chronic infections.展开更多
Congenital insensitivity to pain with anhidrosis （CIPA） is an autosomal recessive form of sensory neuropathymanifesting with the lack of perception of pain.^1 There have been few reports of Charcot spine in patients...Congenital insensitivity to pain with anhidrosis （CIPA） is an autosomal recessive form of sensory neuropathymanifesting with the lack of perception of pain.^1 There have been few reports of Charcot spine in patients with CIPA,^2 and surgery for such cases was accompanied by high revision proportion.^3＇4 The purpose of this report is to describe a patient with CIPA who developed a recurrent Charcot arthropathy in her lumbar spine and was treated by revision surgery, with the aim to discuss the strategy of surgical management for such cases.展开更多
Introduction:Congenital analgesia is a rare autosomal recessive hereditary disease.The primary damage of congenital analgesia is central structure damage of comprehensive pain perception.Case presentation:A 1-year-old...Introduction:Congenital analgesia is a rare autosomal recessive hereditary disease.The primary damage of congenital analgesia is central structure damage of comprehensive pain perception.Case presentation:A 1-year-old Han Chinese boy was admitted to hospital because of a tongue bite.He had no response to noxious stimulation of the body surface and was diagnosed with congenital analgesia.A small dose of remifentanil was intravenously injected during anesthetic induction to reduce the stress response caused by endotracheal intubation.A certain depth of anesthesia should be guaranteed during anesthetic induction and surgery to alleviate the stress response induced by endotracheal intubation and the operation.Conclusion:Opioid analgesics are not required for general anesthesia in patient with congenital insensitivity to pain.With a heat dissipation barrier in patients with congenital insensitivity to pain with anhidrosis,body temperature,end-tidal carbon dioxide and bispectral index should be monitored.展开更多
Congenital insensitivity to pain and anhidrosis （CIPA） is a rare entity.CIPA patients are subjected to repeated injuries,which are easily neglected.There is no specific treatment for CIPA,but supervision by parents ...Congenital insensitivity to pain and anhidrosis （CIPA） is a rare entity.CIPA patients are subjected to repeated injuries,which are easily neglected.There is no specific treatment for CIPA,but supervision by parents and patient training are important to avoid further damage and to maintain quality of life.We present two cases of CIPA involving a brother and sister,whose parents did not have a consanguineous marriage.展开更多
目的分析1例以早发、反复骨折为主要表现的先天性无痛无汗症(congenital insensitivity to pain with anhidrosis,CIPA)患者的临床特点,并对患者及其家系进行致病基因突变研究。方法纳入1例幼年起病,以反复轻微外力下骨折、无汗、痛觉...目的分析1例以早发、反复骨折为主要表现的先天性无痛无汗症(congenital insensitivity to pain with anhidrosis,CIPA)患者的临床特点,并对患者及其家系进行致病基因突变研究。方法纳入1例幼年起病,以反复轻微外力下骨折、无汗、痛觉减退为主要表现的儿童患者,评估其骨转换生化指标、骨密度、骨骼X线特点;采用聚合酶链反应及其产物直接Sanger测序法检测神经营养性酪氨酸激酶受体1基因(neurotrophic tyrosine kinase receptor type 1,NTRK1)突变。结果先证者主要表现为反复无痛性骨折、痛觉减退、无汗、反复高热等,影像学提示骨折部位出现肥厚性骨痂,血清骨吸收指标轻度升高,腰椎骨密度稍降低。基因检测提示患者存在NTRK1基因第7内含子c.IVS7-33T>A和第17外显子c.2281C>T(Arg761Trp)复合杂合突变,其父母亲分别为上述突变基因携带者。结论先天性无痛无汗症十分罕见,其可引起反复无痛性骨折,NTRK1基因突变是疾病的主要致病原因。通过对患者临床表现及分子遗传学分析,可以提高对CIPA骨骼表现的认识及该病的诊治水平。展开更多
目的对一个先天性无痛无汗症（congenital insensitivity to pain with anhidrosis，CIPA）家系进行NTRK1基因的突变分析。方法采集先证者及其家庭成员的外周血各2mL，用PCR扩增其NTRK1基因的全部17个外显子及其侧翼的内含子区域，对扩...目的对一个先天性无痛无汗症（congenital insensitivity to pain with anhidrosis，CIPA）家系进行NTRK1基因的突变分析。方法采集先证者及其家庭成员的外周血各2mL，用PCR扩增其NTRK1基因的全部17个外显子及其侧翼的内含子区域，对扩增产物进行Sanger测序分析。对包含缺失突变的片段进行T-A克隆测序。结果先证者的NTRK1基因携带一个C．1786C〉T（P．Arg596＊）无义突变（源自母亲）和一个缺失突变C．1928—2028＋23del（源自父亲）。先证者的哥哥仅携带缺失突变。结论通过无痛、无汗以及精神发育迟滞等典型症状结合NTRK1基因测序明确了CIPA的诊断，所发现的C．1928—2028＋23del新突变丰富了NTRKj基因的突变谱。展开更多
文摘Pelvic osteotomy is commonly used to adjust acetabula dysplasia for congenital dislocation of the hip, whereas congenital insensitivity to pain with anhidrosis(CIPA) is a rare hereditary disease that often has the characteristics of joint development deformity and easy fracture. This article reports the case involving a CIPA patient who was surgically treated by Chiari pelvic osteotomy and proximal femoral rotation osteotomy for congenital dislocation of the left hip joint and was provided long-term follow-up for redislocation and bilateral femoral head absorption.
文摘Congenital insensitivity to pain and anhidrosis (CIPA) is a rare form of hereditary sensory and autonomic neuropathy. It is characterized by impaired perception of pain and temperature, anhidrosis and intellectual disability. Self mutilating behaviors lead to accidental injuries. The limb lesions are often infected and frequently progress to chronic osteomyelitis. In pediatrics, amyloidosis usually occurs secondary to chronic inflammatory diseases. The coexistence of amyloidosis and CIPA has not previously been reported in literature. A CIPA case complicated with nephrotic syndrome and renal amyloidosis following chronic osteomyelitis is presented here. This report emphasizes the importance of close follow-up of patients by urine analysis for the risk of developing amyloidosis particularly in the presence of chronic infections.
文摘Congenital insensitivity to pain with anhidrosis （CIPA） is an autosomal recessive form of sensory neuropathymanifesting with the lack of perception of pain.^1 There have been few reports of Charcot spine in patients with CIPA,^2 and surgery for such cases was accompanied by high revision proportion.^3＇4 The purpose of this report is to describe a patient with CIPA who developed a recurrent Charcot arthropathy in her lumbar spine and was treated by revision surgery, with the aim to discuss the strategy of surgical management for such cases.
基金Scientific and Technological Projects of Henan Province,China(no.182102310440)Medical Science R&D Program of Henan Province,China(no.2018020598)International Research Laboratory Program of Henan Province,China(no.201605-005)。
文摘Introduction:Congenital analgesia is a rare autosomal recessive hereditary disease.The primary damage of congenital analgesia is central structure damage of comprehensive pain perception.Case presentation:A 1-year-old Han Chinese boy was admitted to hospital because of a tongue bite.He had no response to noxious stimulation of the body surface and was diagnosed with congenital analgesia.A small dose of remifentanil was intravenously injected during anesthetic induction to reduce the stress response caused by endotracheal intubation.A certain depth of anesthesia should be guaranteed during anesthetic induction and surgery to alleviate the stress response induced by endotracheal intubation and the operation.Conclusion:Opioid analgesics are not required for general anesthesia in patient with congenital insensitivity to pain.With a heat dissipation barrier in patients with congenital insensitivity to pain with anhidrosis,body temperature,end-tidal carbon dioxide and bispectral index should be monitored.
文摘Congenital insensitivity to pain and anhidrosis （CIPA） is a rare entity.CIPA patients are subjected to repeated injuries,which are easily neglected.There is no specific treatment for CIPA,but supervision by parents and patient training are important to avoid further damage and to maintain quality of life.We present two cases of CIPA involving a brother and sister,whose parents did not have a consanguineous marriage.
文摘目的分析1例以早发、反复骨折为主要表现的先天性无痛无汗症(congenital insensitivity to pain with anhidrosis,CIPA)患者的临床特点,并对患者及其家系进行致病基因突变研究。方法纳入1例幼年起病,以反复轻微外力下骨折、无汗、痛觉减退为主要表现的儿童患者,评估其骨转换生化指标、骨密度、骨骼X线特点;采用聚合酶链反应及其产物直接Sanger测序法检测神经营养性酪氨酸激酶受体1基因(neurotrophic tyrosine kinase receptor type 1,NTRK1)突变。结果先证者主要表现为反复无痛性骨折、痛觉减退、无汗、反复高热等,影像学提示骨折部位出现肥厚性骨痂,血清骨吸收指标轻度升高,腰椎骨密度稍降低。基因检测提示患者存在NTRK1基因第7内含子c.IVS7-33T>A和第17外显子c.2281C>T(Arg761Trp)复合杂合突变,其父母亲分别为上述突变基因携带者。结论先天性无痛无汗症十分罕见,其可引起反复无痛性骨折,NTRK1基因突变是疾病的主要致病原因。通过对患者临床表现及分子遗传学分析,可以提高对CIPA骨骼表现的认识及该病的诊治水平。
文摘目的对一个先天性无痛无汗症（congenital insensitivity to pain with anhidrosis，CIPA）家系进行NTRK1基因的突变分析。方法采集先证者及其家庭成员的外周血各2mL，用PCR扩增其NTRK1基因的全部17个外显子及其侧翼的内含子区域，对扩增产物进行Sanger测序分析。对包含缺失突变的片段进行T-A克隆测序。结果先证者的NTRK1基因携带一个C．1786C〉T（P．Arg596＊）无义突变（源自母亲）和一个缺失突变C．1928—2028＋23del（源自父亲）。先证者的哥哥仅携带缺失突变。结论通过无痛、无汗以及精神发育迟滞等典型症状结合NTRK1基因测序明确了CIPA的诊断，所发现的C．1928—2028＋23del新突变丰富了NTRKj基因的突变谱。
