新生児マススクリーニングガイド対象疾患等診療ガイドライン
43/99

2) Mitchell GA, et al.:Inborn errors of ketone body metab-olism. In:Scriver CR, et al., eds.:The metabolic &molecular basis of inherited disease. McGraw■Hill, 2001:2327■2356.3) Boukaftane Y, et al.:Cloning and characterization of thehuman mitochondrial 3■hydroxy■3■methylglutaryl CoAsynthase gene. Gene 1997;195:121■126.4) Thompson GN, et al.:Fasting hypoketotic coma in achild with deficiency of mitochondrial 3■hydroxy■3■methylglutaryl■CoA synthase. N Engl J Med 1997;337:1203■1207.5) Morris AA, et al.:Hepatic mitochondrial 3■hydroxy■3■methylglutaryl■coenzyme a synthase deficiency. PediatrRes 1998;44:392■396.6) Bouchard L, et al.:Mitochondrial 3■hydroxy■3■methyl-glutaryl■CoA synthase deficiency:clinical course anddescription of causal mutations in two patients. PediatrRes 2001;49:326■331.7) Aledo R, et al.:Genetic basis of mitochondrial HMG■CoA synthase deficiency. Hum Genet 2001;109:19■23.8) Zschocke J, et al.:The diagnosis of mitochondrialHMG■CoA synthase deficiency. J Pediatr 2002;140:778■780.9) Wolf NI, et al.:Mitochondrial HMG■CoA synthase defi-ciency:identification of two further patients carrying図9■2肝臓の超音波での計測部位〔Konuş OL, et al.:Normal liver, spleen, and kidney dimensions in neonates, infants, and children:evaluation with sonogra-phy. AJR Am J Roentgenol 1998;171:1693—1698を基に作成〕 本症例は小児慢性特定疾患(番号:101)に指定されている.2022年3月月現在,指定難病には含まれない.1) Fukao T, et al.:Ketone body metabolism and its defects. J Inherit Metab Dis 2014;37:541■551.two novel mutations. Eur J Pediatr 2003;162:279■280. 10) Aledo R, et al.:Refining the diagnosis of mitochondrialHMG■CoA synthase deficiency. J Inherit Metab Dis2006;29:207■211. 11) Ramos M, et al.:New case of mitochondrial HMG■CoA synthase deficiency. Functional analysis of eight muta-tions. Eur J Med Genet 2013;56:411■415. 12) Pitt JJ, et al.:Mitochondrial 3■hydroxy■3■methylglu-taryl■CoA synthase deficiency:urinary organic acidprofiles and expanded spectrum of mutations. J InheritMetab Dis 2015;38:459■466. 13) Ghosh A, et al.:Diagnosing childhood■onset inbornerrors of metabolism by next■generation sequencing.Arch Dis Child 2017;102:1019■1029. 14) Puisac B, et al.:Human Mitochondrial HMG■CoA Syn-thase Deficiency:Role of Enzyme Dimerization Surface and Characterization of Three New Patients. Int J Mol Sci 2018;19:1010. 15) Conboy E, et al.:Mitochondrial 3■Hydroxy■3■Methyl-glutaryl■CoA Synthase Deficiency:Unique PresentingLaboratory Values and a Review of Biochemical andClinical Features. JIMD Rep 2018;40:63■69. 16) Lee T, et al.:A Japanese case of mitochondrial 3■hydroxy■3■methylglutaryl■CoA synthase deficiency who presented with severe metabolic acidosis and fatty liverwithout hypoglycemia. JIMD Rep 2019;48:19■25. 17) Ago Y, et al.:Japanese patients with mitochondrial 3■hydroxy■3■methylglutaryl■CoA synthase deficiency:In vitrofunctional analysis of five novel HMGCS2 muta-tions. Exp Ther Med 2020;20:39. 18) Konuş OL, et al.:Normal liver, spleen, and kidneydimensions in neonates, infants, and children:evalua-tion with sonography. AJR Am J Roentgenol 1998;171:1693■1698.mini column2 肝腫大の定量的評価として,下記に示すような超音波検査による計測が有用である. 右鎖骨中線の頭尾長が,肝腫大の客観的指標として最も重要である.それを含め,2断面で頭尾長と前後長をそれぞれ計測するのが望ましい(図9■2)18).体格別の肝臓の大きさの基準値に関しては,文献18を参照されたい.腎臓とのエコー輝度の違いから,脂肪肝の有無を確認する.9 HMG—CoA合成酵素欠損症文献右鎖骨中線剣状突起下右左67Sagittalsection背側プローブ腹側肝臓の超音波検査医療費の問題

元のページ  ../index.html#43

このブックを見る