儿科重点总结(自备)（Key points of Pediatrics (self provided)）.docVIP

儿科重点总结(自备)（Key points of Pediatrics (self provided)） Phenylketonuria: PKU is a common metabolic disorder of amino acids. Due to the enzyme deficiency in phenylalanine metabolism pathway, a large amount of pyruvate excreted in urine is an autosomal recessive inheritance. Pathogenesis: typical PKU is due to lack of phenylalanine -4- hydroxylase in liver cells of children, and can not convert phenylalanine into tyrosine. Atypical PKU is guanosine three phosphate cyclization hydratase, 6- hydrogen four pyruvoyl pterin synthetase or two hydrobiopterin reductase deficiency caused four synthesis of tetrahydrobiopterin, tyrosine and phenylalanine cannot be oxidized, dopamine, serotonin also increased 5 lack of nervous system damage. Clinical presentation: children usually develop symptoms at 3~6 months of age, with marked symptoms at age 1. (1) the nervous system is mainly characterized by mental retardation and convulsions. (three) appearance: skin of hair, skin, iris is shallow. (three) other: eczema, urine and sweat, bad smell of rat urine. Diagnosis: (1) neonatal screening: Guthrie bacterial growth inhibition test. (two) urine test and 2 ferric chloride 4- two, 4-dinitrophenylhydrazine test for screening in older children. (three) plasma free amino acid analysis and urine organic acid analysis: to provide a basis for diagnosis. (four) urinary methotrexate analysis: identification of three atypical PKU. (five) DNA analysis: the phenylalanine hydroxylase gene was located on the long arm of chromosome 12. Treatment: (1) low phenylalanine (30 to 50mg/kg per day) diet. Infantile diarrhea: it is a common disease caused by many pathogenic factors and many factors. It is characterized by the increase of stool frequency and the change of stool character. 6 months to 2 years old, the incidence of infants is high. (1) cause of disease: 1. susceptible factors (1) digestive system features: (1) poor digestive system, poor tolerance to food; rapid growth and development; heavy nutrie