&㏸⾉ᖷ⣵⬂⛛᳔࢝࢕ࢺࣚ࢕ࣤ᱄Ϩ㸣㐲ᚺ㸦㸣Ⓠ⑍ᚃࡡ㸶㹁㸹ᖺඡ᭿࠾ࡼᏕ❲᭿࡞Ⓠ⑍ࡊࡒኬ⬳ᆵ㸶㹁㸹࡚ࡢ࡚ࡀࡾࡓࡄ᪡࠷⛛᳔࠿ᚪさ࡛࡝ࡾࠊ㹂㹇㸾࡞࡙ഁ㢄ᚃ㢄ⴝ୹మࡡⓉ㈻⑋ንࡡ⑍ౚ࡚ࡢ࡛ࡂ࡞㐅⾔࠿᪡࠷ࡡ࡚ࠉチ᩷ᚃ㏷ࡷ࠾࡞㏸⾉ᖷ⣵⬂⛛᳔ࡡࡒࡴࡡ‵ങࢅ㛜ጙࡌࡾࡆ࡛࠿᭻ࡱࡿࡾࠊ㸧㸣Ⓠ⑍๑ࡡ㸶㹁㸹ྜྷ⬂Ⓠ⑍ౚ࡝࡜࡚チ᩷ࡈࡿࡒࠔ㸶㹁㸹Ⓠ⑍ࡡྊ⬗ᛮ࠿࠵ࡾ⑍ౚࠕ࡚ࡢࠉᏽ᭿Ⓩ࡝チᐳ࡛᳠ᰕ㸝㹂㹇㸾ࠉっງ࣬っ㔕ࠉ㸾㹆࡝࡜㸞࡞ࡻࡽࠉձMRI ࡚⬲㧂ᡜぜࢅヾࡴࠉղIQ ఩ୖࠉって㝸ᐐࠉ⫀て㝸ᐐࠉ⢥♼࣬⾔ິ␏ᖏ࡝࡜ࡡ࠷ࡍࡿ࠾ࠉࢅヾࡴࡿࡣ⛛᳔ࡡ㐲ᚺ࠿࠵ࡾࠊIQ ࡢ 80 ௧୕࠵ࡾࡆ࡛࠿᭻ࡱࡊ࠷ࠊϩ㸣ࢺࢻ࣭࡝ࡼࡦ࡞⛛᳔⣵⬂″ࡡ㐽ᢝ ྜྷ⛸㏸⾉ᖷ⣵⬂⛛᳔࡞࠽ࡄࡾࢺࢻ࣭ࡢᝀ⩽࡛ࡡ㸽㹁㸶㐲ྙᛮ㸝㸹㹃㸶ࣝ࣊ࣜ㸞࡛ಕᅄ⩽࡚࠵ࡾ࠾࡜࠹࠾ࠉ⛛᳔ࡱ࡚ࡡ᫤㛣Ⓩఴ⿩࠿࠵ࡾ࠾࡜࠹࠾࡝࡜ࢅ⩻៎ࡊ࡙㐽ᢝࡈࡿࡾࠊᐓ᪐㸝୦ば࡛ྜྷ⬂㸞ࡡ㸽㹁㸶ࢰ࢕ࣅࣤࢡ࡛ಕᅄ⩽チ᩷ࢅ⾔࠷࡝࠿ࡼࠉࡱࡍᐓ᪐හ࡞ࢺࢻ࣭ು⿭⩽࠿Ꮛᅹࡌࡾ࠾࡜࠹࠾ࢅ᳠⣬ࡌࡾࠊᐓ᪐හ࡞㐲ว࡝ࢺࢻ࣭ು⿭⩽࠿Ꮛᅹࡎࡍࠉ⛛᳔ࡱ࡚࡞᫤㛣Ⓩఴ⿩࠿࠵ࡾሔྙ࡞ࡢ㦭㧂ࣁࣤࢠ࠾ࡼ㸽㹁㸶㐿ఎᏄᆵୌ⮬㟸⾉⦍⩽ࢅࠉ᫤㛣Ⓩఴ⿩࠿࡝࠷ሔྙ࡞ࡢ⮎ᖈ⾉ࣁࣤࢠ࠾ࡼ㸽㹁㸶㐿ఎᏄᆵୌ⮬ࡱࡒࡢ㒂ฦୌ⮬㟸⾉⦍⩽ࢅࢺࢻ࣭࡛ࡊ࡙㐽ᢝࡌࡾࠊ᫤㛣Ⓩఴ⿩ࢅ⩻៎ࡊ࡝࠷ሔྙࡡࢺࢻ࣭࡛ࡊ࡙ࡡᴣࡠࡡඁ඙㡨నࡢࠉձ㸳ղҸճӍմ㸳յ࡛ࡌࡾࡆ࡛࠿࡚ࡀࡾࠊ࡝࠽ࠉ⛛᳔⣵⬂″࡛ࡊ࡙㦭㧂ࡡ௥ࢂࡽ࡞ᮆᲀ⾉ᖷ⣵⬂ࢅ㐽ᢝࡌࡾࡆ࡛ࡢྊ⬗࡚࠵ࡾ࠿ࠉ㸦㸥ṋᮅ‫ࡡ‮‬ᑚඡࢺࢻ࣭࡫ࡡ㸼㸢㸸㹈㸻ᢖ୙ࡡᏭධᛮ࠿☔❟ࡊ࡙࠷࡝࠷ࡆ࡛࠾ࡼࠉ⌟᫤Ⅴ࡚ࡢ㦭㧂ࢅ⛛᳔ࡌࡾࡆ࡛࠿ୌ⯙Ⓩ࡚࠵ࡾࠊࡱࡒࠉ≁Ṟ࡝஥ౚ࡛ࡊ࡙ྜྷ⬂࠾ࡼࡡ⮎ᖈ⾉⛛᳔ࢅ⩻៎ࡌࡾሔྙ࡞ࡢࠉࡐࡡྜྷ⬂࠿㐿ఎᏄよᯊ➴࡚ን␏࠿࡝࠷ࡆ࡛ࢅ☔ヾࡊ࡙࠽ࡂᚪさ࠿࠵ࡾࠊձղճմյն㸽㹁㸶㐿ఎᏄᆵୌ⮬ྜྷ⬂㸝㟸ಕᅄ⩽㸞㦭㧂ࢺࢻ࣭㸽㹁㸶㐿ఎᏄᆵୌ⮬ྜྷ⬂㸝ಕᅄ⩽㸞㦭㧂ࢺࢻ࣭㸽㹁㸶㐿ఎᏄᆵୌ⮬㟸⾉⦍⩽㦭㧂ࢺࢻ࣭㸽㹁㸶㐿ఎᏄᆵ㒂ฦୌ⮬⾉⦍⩽㸝㟸ಕᅄ⩽㸞㦭㧂ࢺࢻ࣭㸽㹁㸶㐿ఎᏄᆵ㒂ฦୌ⮬⾉⦍⩽㸝ಕᅄ⩽㸞㦭㧂ࢺࢻ࣭㸽㹁㸶㐿ఎᏄᆵୌ⮬ࡱࡒࡢ㒂ฦୌ⮬㟸⾉⦍⩽⮎ᖈ⾉ࢺࢻ࣭Ϫ㸣⛛᳔๑ฌ⨠ ᚉᮮ㸶㹁㸹࡝࡜ࡡ㟸⭐⑾ᛮ⑄ᝀ࡚ᗀࡂ⏕࠷ࡼࡿ࡙ࡀࡒࣇࢪࣜࣆ࢒ࣤࢅ୹మ࡛ࡊࡒ๑ฌ⨠㸝ࣇࢪࣜࣆ࢒ࣤ㸠࢙ࣤࢺ࢞ࢦࣤs㸶㹉㸼࡝࡜㸞࡞࠽࠷࡙ࡢࠉࣇࢪࣜࣆ࢒ࣤᢖ୙࡞ࡻࡽ⑙᨝࡝࡜ࡡ๧ష⏕࠿ኣᩐヾࡴࡼࡿࡾࡒࡴࠉ௑ᚃࡡ㸶㹁㸹࡞࠽ࡄࡾ๑ฌ⨠࡛ࡊ࡙᥆ዜࡌࡾࡆ࡛ࡢ࡚ࡀ࡝࠷ࠊ ࡊ࠾ࡊࠉࣇࢪࣜࣆ࢒ࣤ㸠࢙ࣤࢺ࢞ࢦࣤs㸶㹉㸼࡞௥ࢂࡾ๑ฌ⨠࡛ࡊ࡙⮫㐲࠵ࡾ࠷ࡢ᭩㐲࡝๑ฌ⨠ࡢࡱࡓ☔❟ࡊ࡙࠷࡝࠷ࡒࡴࠉཉ⏍ຘ഼┤◂✪⌔࡞࠽࠷࡙๑᪁ྡྷっⓏ⮣ᗃ◂✪ࢅᐁ᪃୯࡚࠵ࡾࠊࡆࡡ⮣ᗃ◂✪࡝ࡼࡦ࡞ᅗ㝷Ⓩ࡝ࢤࣤࢬࣤࢦࢪࡡ⤎ㄵ࠿ฝࡾࡱ࡚ࡢࠉ⮣ᗃ◂✪࡛ࡊ࡙௧ୖࡡࣈࣞࢹࢤ࣭ࣜࢅ⏕࠷ࡾࡆ࡛ࢅ᥆ዜࡊࡒ࠷ࠊ
Fludarabine 25mg/m2/day x 5 days (-6,-5,-4,-3,-2 ᪝)
L-PAM 70mg/m2/day x 2 days (-4,-3 ᪝)
TBI 2Gy x 1 day (-1 ᪝)*ATG 2.5mg/kg/day x 2 days (-3,-2 ᪝) *HLA 㐿ఎᏄᆵ୘ୌ⮬ࢺࢻ࣭࠾ࡼࡡ⛛᳔ࡡࡲϫ㸣㸼㹋㸽㸹஢㜭 㸼㹋㸽㸹஢㜭Ἢࡢᝀ⩽࡛ࢺࢻ࣭࡛ࡡ㸽㹁㸶㐲ྙᛮ࡞ࡻࡖ࡙㐽ᢝࡌࡾࠊ㸦㸣㸽㹁㸶㐿ఎᏄᆵୌ⮬⾉⦍࠵ࡾ࠷ࡢ㟸⾉⦍ࢺࢻ࣭࠾ࡼࡡ㦭㧂⛛᳔ ࢦ࢕ࢠࣞࢪ࣎ࣛࣤ㸝㸸㹎㸶㸞㸠▯᭿࣒ࢮࢹࣝ࢞ࢬ࣭ࢹ㸝㹂㹉㹍㸞  CYA㸯3mg/kg/dayࠉdivࠉ MTX:㸠㸦᪝ 10mg/m2ࠉ㸠㸨㸡㸫㸡㸦㸦᪝ 7mg/m2
㸧㸣㸽㹁㸶㐿ఎᏄᆵୌ⮬ࢺࢻ࣭௧አ࠾ࡼࡡ㦭㧂⛛᳔ࢰࢠ࣑ࣞࣛࢪ㸝㸻㹀㸞㸠▯᭿㹂㹉㹍
FK: 0.02mg/kg/dayࠉdivࠉMTX:㸠㸦᪝ 10mg/m2 ࠉ㸠㸨㸡㸫㸡㸦㸦᪝ 7mg/m2
㸨㸣㟸⾉⦍⩽㛣⮎ᖈ⾉⛛᳔  ⮫㐲㸼㹋㸽㸹஢㜭Ἢࡢ☔❟ࡈࡿ࡙࠷࡝࠷ࠊ 㸝ཉ⏍ຘ഼┤ࡡ◂✪⌔࡞ࡻࡽ୕オ㸧Ἢࡡࣚࣤࢱ࣏࢕ࢫ◂✪࠿ᐁ᪃ࡈࡿ࡙࠷ࡾ㸞Ϭ㸣἖⒢ຝᯕࡡフ౮᪁Ἢ㸦㸣 㹂㹇㸾࡞ࡻࡾフ౮ ⛛᳔๑ࠉ⛛᳔ᚃ㸨࢜᭮ࠉ㸫࢜᭮ࠉ㸦ᖳࠉ௧ᚃ㸦ᖳẎ࡞㹂㹇㸾᳠ᰕࢅ⾔࠹ࠊ Gd-enhance ࡞ࡻࡾフ౮࠿᥆ዜࡈࡿࠉLoes score1)࡞ࡻࡽᏽ㔖໩ࡊ࡙⤊᫤Ⓩ
࡞フ౮ࢅ⾔࠹ࡆ࡛࠿᭻ࡱࡊ࠷ࠊ
ࡆࡿࡱ࡚ࡡ◂✪࡞࠽࠷࡙௧ୖࡡࡻ࠹࡝▩ぜ࠿࠻ࡼࡿ࡙࠷ࡾࠊ࣬ ๑㢄ⴝᆵ࡚ࡢ▩⬗఩ୖ࠿୹⑍≟࡚࠵ࡽࠉẒ㍉Ⓩ⥾ᚆ࡞㐅⾔ࡌࡾലྡྷ࠿࠵ࡾࠊ࣬ 㢄㡤ᚃ㢄ⴝᆵ࡚ࡢっງ㝸ᐐ࠿୹⑍≟࡚࠵ࡽࠉ᛬㏷࡞㐅⾔ࡌࡾലྡྷ࠿࠵ࡾࠊ࣬ Enhance ຝᯕࡡ࠵ࡾን໩ࡢ᛬㏷࡞㐅⾔ࡌࡾലྡྷ࠿࠵ࡾࠊ࣬ ⛛᳔ᚃ㸦ࠤ㸧ᖳࡱ࡚ࡢⓉ㈻⑋ንࡡ㐅⾔࠿ヾࡴࡼࡿࡾࡆ࡛࠿࠵ࡾ࠿ࠉࡐࡿ௧㜾࡚ࡢ㐅⾔࠿ೳḾ࠵ࡾ࠷ࡢ⥾ᚆ࡞࡝ࡾࡆ࡛࠿ኣ࠷ࠊ㸧㸣 ▩⬗ࡡフ౮ ᑚඡ♼⤊ᑍ㛓༈࠿࠷ࡾ᪃ス࡚ࡢ WISC-Ϫ࡞ࡻࡾフ౮ࢅ MRI ᳠ᰕ࡛ྜྷ᫤᭿࡞⾔࠹ࡆ࡛࠿᭻ࡱࡊ࠷ 2)ࠊ
 ࡻࡽレ⣵࡝♼⤊ᚨ⌦࣬⏍⌦ᏕⓏ᳠ᰕ࡞ࡗ࠷࡙ࡢࠉཉ⏍ຘ഼┤◂✪⌔஥ᴏࡡୌ⎌࡛ࡊ࡙ᅗ❟⢥♼♼⤊ࢬࣤࢰ࣭㸟࡞࠽࠷࡙ᐁ᪃ࡊ࡙࠷ࡾࡡ࡚ࠉ⣺௒ࡌࡾࡆ࡛࠿ྊ⬗࡚࠵ࡾࠊ⛛᳔๑ࠉ⛛᳔ᚃ㸫࢜᭮ࠉ㸦ᖳᚃࠉ௧ᚃ㸦ᖳẎࡡ᳠ᰕ࠿᥆ዜࡈࡿࡾࠊ㸟 ᅗ❟⢥♼♼⤊ࢬࣤࢰ࣭Ṃⶮ⑋㝌ᑚඡ⛁ ຊᠻ∶Ꮔ㒂㛏ࠚ187-8551 ᑚᖲᕰᑚᕖ᮶⏣ 4-1-1
㞹リ 042-341-2711 㸻㸶㹍 042-344-6745
㸟㸟 ௧ୖࡡࡻ࠹࡝᳠ᰕ࠿ᐁ᪃ࡈࡿ࡙࠷ࡾࠊ
1. WISC-III ▩⬗᳠ᰕ
11.WAB ኶ㄊ⑍᳠ᰕ
2. Raven Ⰵᙤ࣏ࢹࣛࢨࢪ
 12.⣟㡚࣬ㄊ㡚⫀ງ᳠ᰕ
3. Rey Auditory Verbal Learning Test 13.ࢹ࣭ࢠࣤࢷࢪࢹ
4. Rey-Osterrieth 々㞟ᅒᙟ
 14.⎌ሾ㡚ヾ▩᳠ᰕ
5. Frostig ってヾ▩Ⓠ㐡᳠ᰕ 15. Dichotic Listening Test
6. Benton ってオ㖥ງ᳠ᰕ 16.㡚ാᏽన᳠ᰕ
7. ⥲ฦ㸧➴ฦ᳠ᰕ
 17.⪝㡚㡢ᨲᑏ
8. Albert ࡡ⥲ฦᢧᾐ᳠ᰕ
 18.っ⫀て▩てㄇⓆ㞹న
9. ❟᪁మ㏩っᅒࡡᶅ෕ 19.っ⫀て஥㇗㛭㏻㞹న10.ㄊࡡาᣪ
 20.ࢪࢹ࣭ࣜࣈࢷࢪࢹ࡝࡜

ϭ㸣ࡐࡡ௙㸦㸣๧⭀ᶭ⬗ࡡフ౮ 㸶㹁㸹ᝀඡ࡞࠽࠷࡙ࡢ๧⭀ᶭ⬗୘ධࢅྙెࡌࡾࡆ࡛࠿࠵ࡾࡡ࡚ࠉ⛛᳔๑࠾ࡼ⛛᳔ᚃࡡ᭿㛣ᏽ᭿Ⓩ࡞๧⭀ᶭ⬗ࡡ᳠ᰕࢅ⾔࠹ᚪさ࠿࠵ࡾࠊ௧ୖ࡞᳠ᰕ
㡧┘࡛᳠ᰕ᫤᭿㸝‫ࡢۓ‬ᚪ㡪ࠉ‫ࡢې‬ᚪさ࡞ᚺࡋ࡙㸞ࢅ♟ࡌࠊ࣬ ⾉୯࣓࣌ࣜࣤ㸯ACTHࠉ㺏㺮㺖㺔㺳㺅㺮ࠉ⾉ₚ㺯㺛㺲 Ὡᛮࠉ㺆㺮㺙㺳㺒㺘㺰㺲ࠉDHEA/S⛛᳔๑‫⛛ࠉۓ‬᳔ᚃ㸨㹳㸫࢜᭮Ẏ‫ۓ‬࣬ ᑺ୯㸝24 ᫤㛣⵫ᑺ㸞㸯㐗㞫㺏㺮㺖㺔㺳㺅㺮ࠉ17-OHCS,17KS⛛᳔๑‫ۓ‬
࣬ ㎷㏷㸶㸸㹉㸽モ㥺⛛᳔๑‫ࠉۓ‬๧⭀ᶭ⬗␏ᖏ᫤࠵ࡾ࠷ࡢ㸦ᖳẎ‫ې‬࣬ ࢤࣜࢲࢯ࣭ࣜ᪝හንິ am8 ᫤ࠉpm8 ᫤㸝or pm4㹳pm6 ᫤㸞⛛᳔๑‫ۓ‬࣬ ⏤ാ᳠ᰕ㸝๧⭀㸸㹉ࡱࡒࡢ MRI㸞⛛᳔๑‫⛛ࠉې‬᳔ᚃ㸧ᖳẎ‫ې‬㹐๧⭀ᶭ⬗୘ධࡡ἖⒢㹒
࣬チ᩷ᇱ‵ ࢤࣜࢲࢯ࣭ࣜ఩ೋ㸰༔๑᤿⾉࡚㸱5ȣg/dLACTH 㧏ೋ㸰Ӎ200pg/mL㸝ᣚ⤾ᛮ࡝ࡼ 100pg/mL㸞ᑺ୯㐗㞫ࢤࣜࢲࢯ࣭ࣜ,17-OHCS,17-KS ఩ୖ࣬἖⒢ ิ᭿ᢖ୙㔖㸰㺏㺅㺙㺭㺮 12-15mg/m2/day 㸝ฦ㸧㸞 ࢪࢹࣝࢪ᫤㸰㺏㺅㺙㺭㺮ࢅቌ㔖  ඔẴ࠿࡝࠷ࠉⓆ⇍ 38 ᗐ௧ୖ㸰⥌ᣚ㔖ࡡ㸧ಶ  38 ᗐ௧୕ࠉ⦥ྙࢅさࡌࡾአഭ㸰⥌ᣚ㔖ࡡ㸨ಶ㸧㸣⏝≟⭚ᶭ⬗㸶㹁㸹ࡡ⛛᳔⑍ౚ࡚ࡢ⏝≟⭚ᶭ⬗ࡡ␏ᖏ㸝ᶭ⬗ஸ㐅ࠉᶭ⬗఩ୖ㸞ࢅヾࡴࡾࡆ࡛࠿࠵ࡾࡡ࡚ࠉ⛛᳔๑࠾ࡼᏽ᭿Ⓩ࡞⏝≟⭚ᶭ⬗ࡡフ౮ࢅ⾔࠹ᚪさ࠿࠵ࡾࠊ࣬ TSHࠉFree T3ࠉFree T4 ࡡῼᏽ㸰ᖳ㸦㹳㸧ᅂ࣬ TRH ㇿⲬモ㥺㸰୕オ␏ᖏ࠿࠵ࡾሔྙ࠾ࠉ㸦㹳㸧ᖳ࡞㸦ᅂ࣬ ⏝≟⭚⭐ࡡྙెࡵኣ࠷㸰㉰㡚ἴ᳠ᰕࢅ㸦㹳㸧ᖳ࡞㸦ᅂཤ⩻ᩝ⊡ Loes DJ, Stillman AE, Hite S, Shapiro E, Lockman L, Latchaw RE, Moser H,Krivit W.: Childhood cerebral form of adrenoleukodystrophy: short-termeffect of bone marrow transplantation on brain MR observations. AJNR Am J
Neuroradiol. 1994;9:1767-71.
 Shapiro E, Krivit W, Lockman L, Jambaque I, Peters C, Cowan M, Harris R,Blanche S, Bordigoni P, Loes D, Ziegler R, Crittenden M, Ris D, Berg B, CoxC, Moser H, Fischer A, Aubourg P.: Long-term effect of bone-marrowtransplantation for childhood-onset cerebral X-linked adrenoleukodystrophy.
Lancet. 2000;356:713-8.
 Suzuki Y, Isogai K, Teramoto T, Tashita H, Shimozawa N, Nishimura M,Asano T, Oda M, Kamei A, Ishiguro H, Kato S, Ohashi T, Kobayashi H, EtoY, Kondo N.: Bone marrow transplantation for the treatment of X-linked
adrenoleukodystrophy. J Inherit Metab Dis. 2000;23:453-8.
 Peters C, Charnas LR, Tan Y, Ziegler RS, Shapiro EG, DeFor T, Grewal SS,
Orchard PJ, Abel SL, Goldman AI, Ramsay NK, Dusenbery KE, Loes DJ,Lockman LA, Kato S, Aubourg PR, Moser HW, Krivit W.: Cerebral X-linked
adrenoleukodystrophy: the international hematopoietic cell transplantation
experience from 1982 to 1999. Blood. 2004;104:881-8.