Jeffrey D. Kingsley, MD a, Meera Varman, MD a,b, Archana Chatterjee, MD, PhD a,b, Rae A. Kingsley, MSN c and Karl S. Roth, MD b,d a Division of Pediatric Infectious Diseases; b Department of Pediatrics, Creighton University Medical Center, Omaha, Nebraska; c Children's Hospital, Omaha, Nebraska; d Combined Division of Metabolism, Creighton University Medical Center and University of Nebraska Medical Center, Omaha, Nebraska (immunizations); (vaccines); / (metabolic diseases/disorders); (public health) NTBC = 2-(2-nitro-4-trifluoromethyl benzoyl)-1,3- SCID = severe combined immunodeficiency DTaP = diphtheria-tetanus-acellular pertussis PKU = phenylketonuria cyclohexanedione Ig = immunoglobulin MCAD = medium-chain acyl-coa dehydrogenase GSD = glycogen-storage disease P5'N-1 = pyrimidine 5'-nucleotidase deficiency Address correspondence to Karl S. Roth, MD, Department of Pediatrics, Creighton University Medical Center, Omaha, NE 68131. E-mail: ksroth@ creighton.edu PEDIATRICS 2006 12 1 3 177
2 (1) (2) 2 2003 (2003 Red Book) [1] [2] ( ) ( ) (DTaP) 2003 [4] [1] ( ) ( [3] ) DTaP DTaP 24 h 4 h ( ) 1ºC 10% [5] [6] 178 KINGSLEY et al
[7] ( ) ( ) [8] [9 15] ( ) 1 PEDIATRICS 2006 12 1 3 179
1 PKU 12 15 NTBC ( ) / NH 3 14 SLC7A7 B T 6 A 19 A SCID SCID 21 3 SCID SCID SCID PKU (PKU) 6 mg / dl 10 000 15 000 1 PKU PKU 12 PKU PKU [16] 2 3 y 180 KINGSLEY et al
2 MCAD 1p31 24 MCAD 23 Zellweger 12 PXR1 3 mo X X X ABCD-1 GM 1 3 β- 24 23 A B 11 / 24 23 4 4 22 ( A ) Krabbe ( 14 ) GALC 24 23 PKU 15 PEDIATRICS 2006 12 1 3 181
[17, 18] [19] ( ) 2- (2- -4- ) -1 3- (NTBC) NTBC NTBC NTBC ( ) 6 ( 1 mol 2 mol ) 3 9-1- (GALT) 1 GSD 11-6- -6-1b 4 24 23 182 KINGSLEY et al
4 P5 N-1 ( 7 24-1 P5 N-1 23 ) 4 4 3q13 (5-5 - ) 22 24 23 6 24 23 ( ) 1 24 23 B T Nagata [20] 1 8 (Ig) G IgA IgD ( ) [20] ( ) [20] Lukkarinen [21] B (IgG3 IgG4) b 2 (1) T N- ( ) (2) (7 10 d) PEDIATRICS 2006 12 1 3 183
A [22] B 12 [23] (SCID) ( ) SCID A 10 y [24] [25, 26] Alkan [26] ( 2) 60 70 A (MCAD) PKU [28] [29] [30] (1 / 12 000) [31] 2 (1) A ( ) MCAD [27] (2) 184 KINGSLEY et al
2 (GSD) -6- -6- [39] 3 (Zellweger syndrome) [32] X 1b GSD [33] [34] GM 1-6- (Niemann-Pick disease) [35] [36] (Krabbe disease) [37] GSD [40] 1 y 4 ( 3) 60 000 1 [38] DNA RNA ( ) ( 4) PEDIATRICS 2006 12 1 3 185
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ventable Diseases. 8th ed. Washington, DC: Department of Health and Human Services, Centers for Disease Control and Prevention; 2004 3 American Academy of Pediatrics. Pertussis. In: Pickering LK, ed. 2003 Red Book Report of the Committee on Infectious Diseases. 26th ed. Elk Grove Village, IL: American Academy of Pediatrics; 2003:484 485 4 Beisel WR. Metabolic response of the host to infections. In: Feigin RD, et al, eds. Textbook of Pediatric Infectious Diseases. 5th ed. Philadelphia, PA: Saunders Publishing; 2004:62 77 5 Scrimshaw NS. JPEN J Parenter Enteral Nutr 1991;15:589 600 6 Beisel WR, et al. Ann Intern Med 1967;67:744 779 7 Wilson D, et al. Am J Clin Nutr 1961;9:154 158 8 Wannemacher RW Jr, et al. Am J Clin Nutr 1976;29:997 1006 9 Dierdorf SF, et al. Can Anaesth Soc J 1983;30:413 416 10 Walter JH. J Inherit Metab Dis 2000;23:229 236 11 Leonard JV. J Pediatr 2001;138(1 Suppl):S40 S44;discussionS44 S45 12 Steiner LA, et al. Paediatr Anaesth 2002;12:187 191 13 Wilcken B. Southeast Asian J Trop Med Public Health 2003;34 (Suppl 3):198 201 14 Wiese M, et al. J Clin Endocrinol Metab 2004;89:591 597 15 Lindholm H, et al. Clin Physiol Funct Imaging 2004;24:109 115 16 Phenylketonuria (PKU): screening and management. NIH Consens Statement 2000;17(3):1 27 17 Wyss PA, et al. Biochim Biophys Acta 1991;1070:300 304 18 Wyss PA, et al. Clin Sci (Lond) 1992;83:81 87 19 Wyss PA, et al. Biochim Biophys Acta 1993;1182:323 328 20 Nagata M, et al. Eur J Pediatr 1987;146:427 428 21 Lukkarinen M, et al. Clin Exp Immunol 1999;116:430 434 22 Aikoh H, et al. Brain Dev 1997;19:502 505 23 Guerra-Moreno J, et al. Bol Asoc Med P R 2003;95(1):17 20 24 Martinez-Lage JF, et al. Childs Nerv Syst 1994;10:198 203 25 Nagasawa H, et al. Acta Paediatr Jpn 1992;34:409 415 26 Alkan A, et al. Pediatr Neurol 2002;26:405 407 27 Roth KS, et al. J Pediatr 1980;96:845 849 28 Andresen BS, et al. Am J Hum Genet 2001;68:1408 1418 29 Amendt BA, et al. J Clin Invest 1987;79:1303 1309 30 Hale DE, et al. Pediatr Res 1985;19:666 671 31 Wanders RJA, et al. Lancet 1989;2:52 53 32 Kelley RI. Am J Med Genet 1983;16:503 517 33 Moser HW. Brain 1997;120:1485 1508 34 Okada S, et al. Science 1968;160:1002 1004 35 Brady RO. N Engl J Med 1966;275:312 318 36 Kappler J, et al. Hum Genet 1991;86:463 470 37 Wenger DA, et al. Mol Genet Metab 2000;70:1 9 38 Suzuki M, et al. Hum Genet 2001;109:210 215 39 Chou JY, et al. Trends Endocrinol Metab 1999;10:104 113 40 Rapola J. Pathol Res Pract 1994;190(8):759 766 41 Rees DC, et al. Br J Haematol 2003;120:375 383 42 Girot R, et al. Birth Defects Orig Artic Ser 1983;19:313 316 PEDIATRICS 2006;118(2):e460 e470 PEDIATRICS 2006 12 1 3 187