Introduction:Lysinuric protein intolerance(LPI)is a rare genetic disorder caused by mutations in the solute carrier family 7A member 7(SLC7A7)gene.Case presentation:We presented two siblings with LPI,carrying novel mu...Introduction:Lysinuric protein intolerance(LPI)is a rare genetic disorder caused by mutations in the solute carrier family 7A member 7(SLC7A7)gene.Case presentation:We presented two siblings with LPI,carrying novel mutations of c.776delT(p.L259Rfs*18)and c.155G>T(p.G52V)in SLC7A7.The younger sibling,preferring protein-rich foods,showed severe symptoms,including alveolar proteinosis,macrophage activation syndrome,severe diarrhea,and disturbance of consciousness with involuntary movements.In contrast,the elder sibling only had mild symptoms,likely due to aversion to protein-rich food since toddler age.Conclusion:LPI is a congenital genetic metabolic disease with multisystem involvement.Initiating appropriate protein-restricted diet therapy as soon as possible could help prevent the progression of LPI.展开更多
Introduction:Acute necrotizing encephalopathy(ANE),a fatal subtype of infection-triggered encephalopathy syndrome(ITES),can be triggered by many systemic infections.RANBP2 gene mutations were associated with recurrent...Introduction:Acute necrotizing encephalopathy(ANE),a fatal subtype of infection-triggered encephalopathy syndrome(ITES),can be triggered by many systemic infections.RANBP2 gene mutations were associated with recurrent ANE.Case presentation:Here we report a 1-year-old girl with recurrent ITES and RANBP2 mutation.She was diagnosed with influenza-associated encephalopathy and made a full recovery on the first episode.After severe acute respiratory syndrome coronavirus 2 infection,the patient presented with seizures and deteriorating mental status.Brain magnetic resonance imaging revealed necrotic lesions in bilateral thalami and pons.Methylprednisolone,immunoglobulin,and interleukin 6 inhibitors were administered.Her consciousness level was improved at discharge.Nineteen cases of 2019 coronavirus disease-related ANE have been reported,of which 22.2%of patients died and 61.1%had neurologic disabilities.RANBP2 gene mutation was found in five patients,two of whom developed recurrent ITES.Conclusion:Patients with RANBP2 mutations are at risk for recurrent ITES,may develop ANE,and have a poor prognosis after relapse.展开更多
When the integrity of airway epithelium is destroyed,the ordered airway barrier no longer exists and increases sensitivity to viral infections and allergens,leading to the occurrence of airway inflammation such as ast...When the integrity of airway epithelium is destroyed,the ordered airway barrier no longer exists and increases sensitivity to viral infections and allergens,leading to the occurrence of airway inflammation such as asthma.Here,we found that galectin-7 transgenic(+)mice exhibited abnormal airway structures as embryos and after birth.These abnormalities included absent or substantially reduced pseudostratified columnar ciliated epithelium and increased monolayer cells with irregular arrangement and widening of intercellular spaces.Moreover,airway tissue from galectin-7 transgenic(+)mice showed evidence of impaired cell–cell junctions and decreased expression of zonula occludens-1(ZO-1)and E-cadherin.When treated with respiratory syncytial virus(RSV)or ovalbumin(OVA),galectin-7 transgenic(+)mice developed substantially increased bronchial epithelial detachment and apoptosis,airway smooth muscle and basement membrane thickening,and enhanced airway responsiveness.We found that Galectin-7 localized in the cytoplasm and nucleus of bronchial epithelial cells,and that increased apoptosis was mediated through mitochondrial release of cytochrome c and upregulated JNK1 activation and expression of caspase-3 in galectin-7 Tg(+)mice.These findings suggested that Galectin-7 causes airway structural defects and destroys airway epithelium barrier,which predispose the airways to RSV or OVA-induced epithelial apoptosis,injury,and other asthma responses.展开更多
文摘Introduction:Lysinuric protein intolerance(LPI)is a rare genetic disorder caused by mutations in the solute carrier family 7A member 7(SLC7A7)gene.Case presentation:We presented two siblings with LPI,carrying novel mutations of c.776delT(p.L259Rfs*18)and c.155G>T(p.G52V)in SLC7A7.The younger sibling,preferring protein-rich foods,showed severe symptoms,including alveolar proteinosis,macrophage activation syndrome,severe diarrhea,and disturbance of consciousness with involuntary movements.In contrast,the elder sibling only had mild symptoms,likely due to aversion to protein-rich food since toddler age.Conclusion:LPI is a congenital genetic metabolic disease with multisystem involvement.Initiating appropriate protein-restricted diet therapy as soon as possible could help prevent the progression of LPI.
文摘Introduction:Acute necrotizing encephalopathy(ANE),a fatal subtype of infection-triggered encephalopathy syndrome(ITES),can be triggered by many systemic infections.RANBP2 gene mutations were associated with recurrent ANE.Case presentation:Here we report a 1-year-old girl with recurrent ITES and RANBP2 mutation.She was diagnosed with influenza-associated encephalopathy and made a full recovery on the first episode.After severe acute respiratory syndrome coronavirus 2 infection,the patient presented with seizures and deteriorating mental status.Brain magnetic resonance imaging revealed necrotic lesions in bilateral thalami and pons.Methylprednisolone,immunoglobulin,and interleukin 6 inhibitors were administered.Her consciousness level was improved at discharge.Nineteen cases of 2019 coronavirus disease-related ANE have been reported,of which 22.2%of patients died and 61.1%had neurologic disabilities.RANBP2 gene mutation was found in five patients,two of whom developed recurrent ITES.Conclusion:Patients with RANBP2 mutations are at risk for recurrent ITES,may develop ANE,and have a poor prognosis after relapse.
基金This study was supported by the National Natural Science Foundation of China(81070017 and 81370124)。
文摘When the integrity of airway epithelium is destroyed,the ordered airway barrier no longer exists and increases sensitivity to viral infections and allergens,leading to the occurrence of airway inflammation such as asthma.Here,we found that galectin-7 transgenic(+)mice exhibited abnormal airway structures as embryos and after birth.These abnormalities included absent or substantially reduced pseudostratified columnar ciliated epithelium and increased monolayer cells with irregular arrangement and widening of intercellular spaces.Moreover,airway tissue from galectin-7 transgenic(+)mice showed evidence of impaired cell–cell junctions and decreased expression of zonula occludens-1(ZO-1)and E-cadherin.When treated with respiratory syncytial virus(RSV)or ovalbumin(OVA),galectin-7 transgenic(+)mice developed substantially increased bronchial epithelial detachment and apoptosis,airway smooth muscle and basement membrane thickening,and enhanced airway responsiveness.We found that Galectin-7 localized in the cytoplasm and nucleus of bronchial epithelial cells,and that increased apoptosis was mediated through mitochondrial release of cytochrome c and upregulated JNK1 activation and expression of caspase-3 in galectin-7 Tg(+)mice.These findings suggested that Galectin-7 causes airway structural defects and destroys airway epithelium barrier,which predispose the airways to RSV or OVA-induced epithelial apoptosis,injury,and other asthma responses.
