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Guana, Riccardo,Garofano, Salvatore,Teruzzi, Elisabetta,Vinardi, Simona,Carbonaro, Giulia,Cerrina, Alessia,Morra, Isabella,Montin, Davide,Mussa, Alessandro,Schleef, Jurgen The Korean Society of Pediatric Gastroenterology 2014 Pediatric gastroenterology, hepatology & nutrition Vol.17 No.4
Severe combined immunodeficiency (SCID) is a life-threatening syndrome of recurrent infections and gastro-intestinal alterations due to severe compromise of T cells and B cells. Clinically, most patients present symptoms before the age of 3 months and without intervention SCID usually results in severe infections and death by the age of 2 years. Its association with intestinal anomalies as multiple intestinal atresias (MIA) is rare and worsens the prognosis, resulting lethal. We describe the case of a four year-old boy with SCID-MIA. He presented at birth with meconium peritonitis, multiple ileal atresias and underwent several intestinal resections. A targeted Sanger sequencing revealed a homozygous 4-bp deletion ($c.313{\Delta}TATC$; p.Y105fs) in tetratricopeptide repeat domain 7A (TTC7A). He experienced surgical procedures including resection and stricturoplasty. Despite parenteral nutrition-associated liver disease, the patient is surviving at the time of writing the report. Precocious immune system assessment, scrutiny of TTC7A mutations and prompt surgical procedures are crucial in the management.
Riccardo Guanà,Salvatore Garofano,Elisabetta Teruzzi,Simona Vinardi,Giulia Carbonaro,Alessia Cerrina,Isabella Morra,Davide Montin,Alessandro Mussa,Jürgen Schleef 대한소아소화기영양학회 2014 Pediatric gastroenterology, hepatology & nutrition Vol.17 No.4
Severe combined immunodeficiency (SCID) is a life-threatening syndrome of recurrent infections and gastro-intestinal alterations due to severe compromise of T cells and B cells. Clinically, most patients present symptoms before the age of 3 months and without intervention SCID usually results in severe infections and death by the age of 2 years. Its association with intestinal anomalies as multiple intestinal atresias (MIA) is rare and worsens the prog-nosis, resulting lethal. We describe the case of a four year-old boy with SCID-MIA. He presented at birth with meco-nium peritonitis, multiple ileal atresias and underwent several intestinal resections. A targeted Sanger sequencing revealed a homozygous 4-bp deletion (c.313ΔTATC; p.Y105fs) in tetratricopeptide repeat domain 7A (TTC7A).He experienced surgical procedures including resection and stricturoplasty. Despite parenteral nutrition-associated liver disease, the patient is surviving at the time of writing the report. Precocious immune system assessment, scrutiny of TTC7A mutations and prompt surgical procedures are crucial in the management.
Riccardo Guanà,Salvatore Garofano,Elisabetta Teruzzi,Simona Vinardi,Giulia Carbonaro,Alessia Cerrina,Isabella Morra,Davide Montin,Alessandro Mussa,Jürgen Schleef 대한소아소화기영양학회 2015 Pediatric gastroenterology, hepatology & nutrition Vol.18 No.1
Severe combined immunodeficiency (SCID) is a life-threatening syndrome of recurrent infections and gastrointestinal alterations due to severe compromise of T cells and B cells. Clinically, most patients present symptoms before the age of 3 months and without intervention SCID usually results in severe infections and death by the age of 2 years. Its association with intestinal anomalies as multiple intestinal atresias (MIA) is rare and worsens the prognosis, resulting lethal. We describe the case of a four year-old boy with SCID-MIA. He presented at birth with meconium peritonitis, multiple ileal atresias and underwent several intestinal resections. A targeted Sanger sequencing revealed a homozygous 4-bp deletion (c.313ΔTATC; p.Y105fs) in tetratricopeptide repeat domain 7A (TTC7A). He experienced surgical procedures including resection and stricturoplasty. Despite parenteral nutrition-associated liver disease, the patient is surviving at the time of writing the report. Precocious immune system assessment, scrutiny of TTC7A mutations and prompt surgical procedures are crucial in the management.