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 Wysłany: Wto 1:18, 22 Mar 2011 Temat postu: tory burch outlet The main symptoms to coma and 2 |
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The main symptoms to coma and 2 patients medical record
Non-specific symptoms such as vomiting, about half of the patients may have neutropenia, thrombocytopenia, and anemia. Part of the disease manifested as intermittent seizures, often due to infection, hunger, fatigue, high-protein diet induced vomiting, metabolic acidosis, hyperammonemia, hypoglycemia, disturbance of consciousness, causing metabolic encephalopathy, Yan smoked when sudden death. Children with severe neonatal period can be from the onset, the mortality rate is very high. Clinical manifestations of late-onset cases, different priorities, and even so-called healthy asymptomatic patients. MMA caused damage to the nervous system often involving the globus pallidus, head CT in the basal ganglia on the performance of low density, the performance of the globus pallidus on MRI in the head a long long T T signal; the disease can also cause diffuse white matter lesions in MRI, showed long T signal. MMA is to rely on the diagnosis of GC / MS detector from a large number of patients detected in the urine of methylmalonic acid and its metabolites from 3-hydroxy acid and methyl citrate. Methylmalonic acid in normal urine volume should be excluded from less than a day 5rag, characterized as negative. MMA methylmalonic acid in urine in children with positive qualitative and quantitative up 240-5700mg/24h. L2 l6 weeks of a pregnancy, t,: tN be amniotic fluid, maternal urine methylmalonic acid concentrations can be used as prenatal diagnosis. MMA can be divided according to treatment VitB,: effective type VitB. : Invalid type 2. CblA more than 90% and less than 50% of the cblB patients VitB,: sensitive,[link widoczny dla zalogowanych], cblC, cblD, cblF defects in patients with high-dose VitBl2 respond, and rout that should be given large doses VitB: (1 ~ 2mg / d) intramuscular treatment for several days, clinical symptoms improved and urine methylmalonic acid concentrations decreased by as VitB.: valid type, the contrary was an invalid type. VitBl2 effective type Long-term treatment for VitBl21mg / d, combined with L-carnitine [(100-300rag / (kg · d)], 3 times 1:3 service, and should cubs 152J intake of protein restriction (or restriction of isoleucine, valine, methionine, threonine and other amino acid precursor of methylmalonic acid intake),[link widoczny dla zalogowanych], and to ensure adequate energy supply, the acute phase should actively rehydration, correct dehydration acidosis, when necessary, peritoneal or hemodialysis. VitB: invalid type in the main low-protein high-calorie diet, with removal of isoleucine, valine, methionine, threonine special diet. MMA's prognosis depends on its type, early diagnosis and treatment of three. mut. type 8O% incidence at 1 week after birth, the prognosis is the worst, eblA type the best prognosis. VitB: effective long-term type of patients can adhere to the proper treatment can improve the prognosis, mental and growth and development may be normal. VitB. invalid type of poor prognosis, chronic. kidney failure is one of its long-term complications of renal transplantation may be effective. MMA is a genetic metabolic disease, inherited metabolic disease, also known as inborn errors of metabolism, including amino acids,[link widoczny dla zalogowanych], organic acids, sugars, fat, hormones and other metabolic defects, the Department of the genetic defects in metabolism, causing the accumulation of abnormal metabolites or the lack of important physiological active substance, and then lead to a corresponding clinical symptoms. Although the incidence is relatively low, but the mortality, morbidity high, if not early diagnosis, will give children, families and society the pain and burden, and not conducive to eugenics. Clinicians should be consciousness conduct case studies, gain experience, improve clinical symptoms of inherited metabolic disease awareness. inherited metabolic diseases have common clinical features: ① ② metabolic disorders nervous system damage. ③ liver damage or other organ involvement. ④ special smell. ⑤ abnormal skin and hair. ⑥ appearance and facial deformity. ⑦ Others: such as diarrhea, vomiting, irritability, lethargy, feeding difficulties, eczema and other persistent non-specific symptoms. clinicians should pay attention to some non-specific cues in the event of suspected cases can think of genetic metabolism of the possibility of sexually transmitted diseases, the laboratory diagnosis and timely choice. urine screening test, blood and (or) urine amino acid analysis, organic analysis,[link widoczny dla zalogowanych], and the corresponding enzyme inspection is commonly used diagnostic method for genetic and metabolic diseases . The two cases of children with clear urine screening results, the establishment of diagnosis of methylmalonic acidemia. VitB case 2 after treatment, the symptoms disappeared without a repeat,[link widoczny dla zalogowanych], as VitB: efficient type, such as to adhere to reasonable long-term treatment, mental and growth may be affected. Case 1 onset 1 week after birth, considering the potential for the rout. type, the type of disease dangerous, VitB.: ineffective treatment, the mortality rate is very high. Received date :2006-04-25 : Revised :2006-11-24
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