௝ྎ་⒪ࢭࣥࢱ࣮་Ꮫ㞧ㄅ Vol 4, 2014⑕౛ሗ࿌⚄⤒⥺⥔⭘⑕Ϩᆺྜే཮⫾ዷፎࡢ 1 ౛                                              ᒾᶫ⚽ᶞ 1)ࠊ᫂ᇛග୕ 1)ࠊᕤ⸨ከెᏊ 1)ࠊ஭ࢣ⏣ᑠ⥴㔛 1)ࠊ∾㔝ᾈ඘ 1)ࠊྜྷỌᾈ௓ 1)ࠊ࿴⏣⿱୍ 1)1) ௝ྎ་⒪ࢭࣥࢱ࣮ ⏘፬ே⛉Ӑᢒ㘓ӑ ⚄⤒⥺⥔⭘⑕Ϩᆺ(von Recklinghausen ⑓ࠊneurofibromatosis Ϩ: NF1)ࡣ⓶⭵ࢆጞࡵ࡜ࡋࡓྛ✀⮚ჾ࡟ከᙬ࡞⑓ኚࢆ⏕ࡌࡿᖖᰁⰍయඃᛶ㑇ఏ⑌ᝈ࡛࠶ࡾࠊNF1 ྜేዷፎ࡛ࡣṚ⏘ࠊ᪩⏘ࠊ⫾ඣⓎ⫱୙඲ࠊዷፎ㧗⾑ᅽ⑕ೃ⩌࡞࡝ࡢྜే⑕ࡢⓎ⑕ࣜࢫࢡࡀୖ᪼ࡍࡿࡇ࡜ࡀ▱ࡽࢀ࡚࠸ࡿࠋ௒ᅇᡃࠎࡣ NF1 ྜే཮⫾ዷፎࡢ 1౛ࢆ⤒㦂ࡋࡓࡢ࡛ࠊᩥ⊩ⓗ⪃ᐹࢆྵࡵ࡚ሗ࿌ࡍࡿࠋ ⑕౛ࡣ 30 ṓࠊ2 ⤒ዷ 0 ⤒⏘ࠊNF1 ࡢデ᩿࡛ࠊᙜ㝔⓶⭵⛉ࠊ⪥㰯ဗႃ⛉ࠊ⬻⚄⤒እ⛉࡛⤒㐣ほᐹࡉࢀ࡚࠸ࡓࠋዷፎᡂ❧ᚋࠊ஧⤧ẟ⭷஧⨺⭷ᛶ཮⫾࡜デ᩿ࡉࢀࠊዷፎ 11 㐌࡟ᙜ⛉⤂௓ࠋዷፎ 29 㐌࡟㢖ᅇࡢᏊᐑ཰⦰ࡀฟ⌧ࡋࡓࡓࡵሷ㓟ࣜࢺࢻࣜࣥෆ᭹࠾ࡼࡧⅬ⁲࡟ࡼࡿษ㏕᪩⏘ࡢධ㝔἞⒪ࢆ㛤ጞࠊዷፎ 35 㐌࠿ࡽ◲㓟࣐ࢢࢿࢩ࣒࢘ᢞ୚ࡶ㛤ጞࡋࡓࠋዷፎ 35 㐌 5 ᪥࡟㑅ᢥⓗᖇ⋤ษ㛤⾡᪋⾜ࡋࠊϨඣ㸸2344g ⏨ඣ(-0.93SD)ࠊϩඣ㸸
2098g ዪඣ(-1.75SD)ࢆศፔࠊ୧ඣඹ࡟᪂⏕ඣ⛉ධ㝔࡜࡞ࡗࡓࠋ୧ඣඹ࡟ NF1 ࢆ♧၀ࡍࡿࡼ࠺࡞㌟యᡤぢࡣㄆࡵࡎࠊẕయࡣዷፎ⤒㐣࠾ࡼࡧ⾡ᚋࡣ኱ࡁ࡞␗ᖖ࡞ࡃ⤒㐣ࡋࠊ⏘〟 7 ᪥┠࡟㏥㝔ࡋࡓࠋ ዷፎࡑࡢࡶࡢࡀ NF1 ࢆቑᝏࡉࡏࡿࡇ࡜ࡀ࠶ࡾࠊ≉࡟〓Ⰽ⣽⬊⭘ࢆྜేࡍࡿࡼ࠺࡞⑕౛࡛ࡣẕయṚஸ࡜࡞ࡗࡓሗ࿌ࡶ࠶ࡿࡓࡵࠊNF1 ྜేዷ፬ࡣࣁ࢖ࣜࢫࢡዷ፬࡜ࡋ࡚⟶⌮ࡍࡿᚲせࡀ࠶ࡿࠋࡲࡓ㑇ఏ⑌ᝈ࡛࠶ࡿ࡜
࠸࠺≉ᛶ࠿ࡽࠊ⏘⛉ࡢࡳ࡞ࡽࡎࠊ᪂⏕ඣ⛉࡞࡝ࡢྛ⛉ࡀ㐃ᦠࡋ࡚デ⒪࡟࠶ࡓࡾࠊዷፎ⤒㐣ࡸศፔ᪉㔪࡟ᛂࡌࡓ࿘⏘ᮇ⟶⌮ࢆ⾜࠺ࡇ࡜ࡀ㔜せ࡛࠶ࡿࠋ                                               ࣮࣮࢟࣡ࢻ㸸⚄⤒⥺⥔⭘⑕Ϩᆺࠊ཮⫾ࠊvon Recklinghausen ⑓㸦ᖹᡂ 26 ᖺ 2 ᭶ 26 ᪥ཷ㡿ࠊᖹᡂ 26 ᖺ 3 ᭶ 6 ᪥᥇⏝㸧㸯 ࡣࡌࡵ࡟⑕౛ࢆ⤒㦂ࡋࡓࡢ࡛ࠊሗ࿌ࡍࡿࠋ ⚄ ⤒⥺ ⥔⭘ ⑕Ϩ ᆺ (von Recklinghausen ⑓ ࠊneurofibromatosis Ϩ:NF1)ࡣ⓶⭵ࢆጞࡵ࡜ࡋࡓྛ㸰 ⑕౛✀⮚ჾ࡟ከᙬ࡞⑓ኚࢆ⏕ࡌࡿᖖᰁⰍయඃᛶ㑇ఏ⑌ᝈ⪅㸸30 ṓᝈ࡛࠶ࡾࠊࡑࡢ἞⒪ἲࡣᮍࡔ☜❧ࡉࢀ࡚࠸࡞࠸ࠋࡉ

ᐙ᪘Ṕ㸸≉グ஦㡯࡞ࡋࡽ࡟ NF1 ྜేዷፎࡢ⟶⌮࡟ࡘ࠸࡚ࡣ୍ᐃࡢぢゎࡣ᪤ Ṕ㸸26 ṓ᫬࡟ NF1 ࡜デ᩿࡞ࡃࠊNF1 ࡀ཮⫾࡟ཬࡰࡍᙳ㡪࡟ࡘ࠸࡚ࡢሗ࿌ࡣ

ዷፎṔ㸸2 ⤒ዷ 0 ⤒⏘㸦⮬↛ὶ⏘ 2 ᅇ㸧ᑡ࡞࠸ࡓࡵࠊࡑࡢ⟶⌮࡟ࡣⱞ៖ࢆせࡍࡿࠋ௒ᅇᡃࠎ
ࡣ NF1 ྜే཮⫾࡟ᑐࡋ࡚ᖇ⋤ษ㛤⾡ࢆ᪋⾜ࡋࠊ≉⌧⑓Ṕ⮬↛ዷፎᡂ❧ᚋࠊ௚㝔࡛஧⤧ẟ⭷஧⨺⭷ᛶ཮⫾࡜࡟኱ࡁ࡞␗ᖖ࡞ࡃ⤒㐣ࡋࡓ஧⤧ẟ⭷஧⨺⭷ᛶ཮⫾

53⚄⤒⥺⥔⭘⑕ I ᆺྜే཮⫾ዷፎデ᩿ࡉࢀࠊዷፎ 11 㐌 2 ᪥࡟ᙜ㝔⤂௓ཷデࡉࢀࡓࠋධ㝔ᚋ⤒㐣௨㝆ࠊᙜ⛉࡛ࡢዷ፬೺ᗣデᰝ㸦௨ୗࠊዷ፬᳨デ㸧࡛ධ㝔ᚋࠊሷ㓟ࣜࢺࢻࣜࣥෆ᭹࡟ࡼࡿຍ⒪ࡣ኱ࡁ࡞␗ᖖࡣ↓ࡃ⤒㐣ࡋ࡚࠸ࡓࠋNF1 ࡟ࡘ࠸࡚(20mg/day)ࢆ㛤ጞࡋ⤒㐣ほᐹࡋ࡚࠸ࡓࡀࠊᏊᐑ཰⦰ࡣᙜ㝔⓶⭵⛉ࠊ║⛉ࠊ⪥㰯⛉ࠊ⬻⚄⤒እ⛉࡛⤒㐣ほᨵၿࡏࡎࠊዷፎ 31 㐌࡟ሷ㓟ࣜࢺࢻࣜࣥⅬ⁲ᢞ୚ࢆᐹࡉࢀ࡚࠸ࡓࠋዷፎ 29 㐌࡟㢖ᅇࡢᏊᐑ཰⦰ࢆ⮬ぬ㛤ጞ(183ȣg/min)ࡋࡓࠋᏊᐑ཰⦰ᢚไࡀ୙༑ศ࡛࠶

ࡋࠊษ㏕᪩⏘ࡢデ᩿࡛ධ㝔࡜࡞ࡿࡲ࡛ࡣእ᮶⟶⌮ࡋࡗࡓࡓࡵࠊዷፎ 35 㐌ࡼࡾ◲㓟࣐ࢢࢿࢩ࣒࢘Ⅼ⁲ᢞ࡚࠸ࡓࠋ୚ࢆ㛤ጞ(1.0g/hr)ࡋࡓࠋධ㝔୰࡟᪋⾜ࡋ࡚࠸ࡓ⤒⭡㉸㡢Ἴ᩿ᒙ᳨ᰝ࡟ࡼࡿ୧ඣࡢ᥎ᐃయ㔜ࡢ᥎⛣ࢆᅗ 1ධ㝔᫬᳨ᰝᡤぢ࡟♧ࡍࠋ༢⫾ࡢᡂ㛗᭤⥺ࢆ㐺⏝ࡍࡿ࡜⫾ඣண⾑ᾮ᳨ᰝ㸸⾲ 1 ࡟♧ࡍࠋ

(EFW:estimated fetal weight)ࡣ୧ඣ࡜ࡶ࡟-1.5SD

య㔜௜㏆࡟఩⨨ࡍࡿࡀࠊEFW ࡣ⤒᫬ⓗ࡟ቑຍࡋᅗ 1 ᡂ㛗᭤⥺㸦༢⫾㸧 ᪥ᮏ⏘⛉፬ே⛉Ꮫ఍ࡀ᥎ዡࡋ࡚࠸
⾲ 1 ධ㝔᫬⾑ᾮ᳨ᰝࡿ༢⫾ࡢᡂ㛗᭤⥺࡟ࠊ୧ඣࡢ᥎ᐃయ㔜ࢆࣉࣟࢵࢺࡋࡓࡶࡢࢆ
♧ࡍࠋEFW ࡣ㡰ㄪ࡟ቑຍࡋ࡚࠸ࡓࠋ

⤒⭡㉸㡢Ἴ᩿ᒙ᳨ᰝ
Ϩඣࡣ➨ 1 㢌఩ࠊ᥎ᐃయ㔜 1420gࠊ⨺Ỉ࣏ࢣࢵⓎ⫱ࡣ㡰ㄪ࡜ᛮࢃࢀࡓࠋዷፎ 35 㐌 5 ᪥ࠊTocolysis

ࢺ 5cm ࡛࠶ࡗࡓࠋϩඣࡣ➨ 2 㦵┙఩ࠊ᥎ᐃయ㔜ᅔ㞴࡛࠶ࡗࡓࡓࡵࠊሷ㓟ࣜࢺࢻࣜࣥ࠾ࡼࡧ◲㓟࣐ࢢ

1330gࠊ⨺Ỉ࣏ࢣࢵࢺ 5cm ࡛࠶ࡗࡓࠋࡑࢀࡒࢀඣࢿࢩ࣒࢘ࡢᢞ୚ࢆ⤊஢ࡢୖࠊᖇ⋤ษ㛤⾡࡟ࡼࡿศፔ࠾ࡼࡧࡑࡢ㝃ᒓ≀࡟᫂ࡽ࠿࡞␗ᖖࡣㄆࡵ࡞࠿ࡗࡓࠋ

ࡢ᪉㔪࡜ࡋࡓࠋ
ዷፎ 35 㐌 5 ᪥࡟ᖇ⋤ษ㛤⾡᪋⾜ࡋࠊϨඣ㸸2344g⏨ඣ(-0.93SD)ࠊApgar score 1 ศᚋ 8 Ⅼࠊ5 ศᚋ 9⫾ඣᚰᢿ㝕③ᅗ
Ϩඣࡣᇶ⥺ 150bpmࠊᇶ⥺⣽ኚື 6-25bpm ࡢ⠊Ⅼࠊ⮖ᖏື⬦⾑ pH 7.307ࠊϩ ඣ㸸2098g ዪඣᅖෆ࡛ࠊ୍㐣ᛶ㢖⬦ࢆㄆࡵࠊ୍㐣ᛶᚎ⬦ࡣㄆࡵ࡞࠿

(-1.75SD)ࠊApgar score 1 ศᚋ 9 Ⅼࠊ5 ศᚋ 9 Ⅼࠊࡗࡓࠋϩඣࡣᇶ⥺ 145bpmࠊᇶ⥺⣽ኚື 6-25bpm⮖ᖏື⬦⾑ pH 7.311 ࡢศፔ࡟⮳ࡗࡓࠋẕయ࡟ࡘ࠸ࡢ⠊ᅖෆ࡛ࠊ୍㐣ᛶ㢖⬦ࢆㄆࡵࠊ୍㐣ᛶᚎ⬦ࡣㄆࡵ࡚ࡣ⾡ᚋ≉࡟␗ᖖ࡞ࡃ⤒㐣ࡋࠊ⾡ᚋ 7 ᪥┠࡟㍍ᛌ㏥ࡎࠊ୧ඣඹ࡟ Reassuring fetal status ࡜ุ᩿ࡋࡓࠋ㝔࡜࡞ࡗࡓࠋඣࡣ୧ඣඹ࡟᪩⏘ඣࠊపฟ⏕య㔜ඣࠊ᪂⏕ඣప⾑⢾ࠊ᪂⏕ඣ୍㐣ᛶከ࿧྾ࡢࡓࡵ࡟᪂⏕ඣ⛉ධ㝔࡜࡞ࡗࡓࡀࠊNF1 ࢆ✚ᴟⓗ࡟␲࠺ࡼ࠺࡞⓶ධ㝔᫬㌟యᡤぢ⭵ᡤぢࡣㄆࡵ࡞࠿ࡗࡓࠋ᪂⏕ඣ⛉ධ㝔ᚋࡢ⤒㐣ࡣ୧యᖿ㒊ࢆ୰ᚰ࡟⚄⤒⥺⥔⭘࡜ᛮࢃࢀࡿ⭘⒗࡜࢝ඣඹ࡟Ⰻዲ࡛࠶ࡾࠊ᪥㱋 24 ࡟㏥㝔࡜࡞ࡗࡓࠋࣇ࢙࢜ࣞᩬࡀᩓᅾࡋ࡚࠸ࡓࠋ

54

௝ྎ་⒪ࢭࣥࢱ࣮་Ꮫ㞧ㄅ Vol 4, 2014㸱 ⪃ᐹᰝ࡟ࡼࡗ࡚⮫ᗋ⤒㐣ࡀุ᫂ࡋ࡚࠸ࡓࡓࡵࠊ≉࡟ዷፎ

 NF1 ࡣࠊ⒴ᢚไ㑇ఏᏊࡢ 1 ࡘ࡛࠶ࡿ NF1 㑇ఏᏊ୰ࡢ NF1 ቑᝏࡢ᭷↓࡟ࡘࡁཝ㔜࡟⤒㐣ほᐹࡋ࡚࠸ࡢ␗ᖖ࡟ࡼࡗ࡚Ⓨ⑕ࡍࡿᖖᰁⰍయඃᛶ㑇ఏ⑌ᝈ࡛ࡓࠋࡲࡓዷፎ 29 㐌࠿ࡽษ㏕᪩⏘ᚩೃࡀฟ⌧ࡋࡓࡓ࠶ࡾࠊ⚄⤒⥺⥔⭘ࡸ࢝ࣇ࢙࢜ࣞᩬ࡜࠸ࡗࡓ⓶⭵⑓ኚࡵධ㝔⟶⌮࡜ࡋ࡚࠾ࡾࠊ௚⛉࡜ࡢ㐃ᦠࢆ࡜ࡾ࡞ࡀࡽࢆࡣࡌࡵࠊ⚄⤒⣔ࠊ║⛉⣔ࠊᩚᙧእ⛉⣔ࡢ⑓ኚࡶ࿊

࿘⏘ᮇ⟶⌮ࢆ⾜࠸ࠊ≉࡟኱ࡁ࡞ྜే⑕࡞ࡃ⤒㐣ࡋࡓࠋࡍࡿࡇ࡜ࡀ࠶ࡿ 1)ࠋ␿Ꮫⓗ࡟ࡣࠊᡃࡀᅜࡢᝈ⪅ᩘࡣධ㝔୰࡟᪋⾜ࡋ࡚࠸ࡓ⤒⭡㉸㡢Ἴ᩿ᒙ᳨ᰝ࡛ࡣ༢

⣙ 40000 ே࡜᥎ᐃࡉࢀࠊ⣙ 3000 ฟ⏕࡟ 1 ேࡢ๭ྜ⫾ࡢᡂ㛗᭤⥺࡛ẚ㍑ࡍࡿ࡜Ⓨ⫱୙඲ࡀࡳࡽࢀࡓࡀࠊ

࡛Ⓨ⏕ࡍࡿࡀࠊᐙ᪘Ṕࡢ࡞࠸ᏙⓎ౛ࡶᑡ࡞ࡃ࡞࠸ࠋ

Senoo ࡽ 12)࡟ࡼࡿ཮⫾ࡢᡂ㛗᭤⥺࡜ẚ㍑ࡍࡿ࡜኱㑇 ఏ Ꮫ ⓗ ࡟ ࡣ NF1 㑇 ఏ Ꮚ ࡢ ⏘ ≀ ࡛ ࠶ ࡿࡁ࡞㐓⬺ࡣ࡞࠿ࡗࡓࠋ

neurofibromin Ⓨ⌧పୗ࡟క࠸ࠊᵝࠎ࡞⭘⒆ࡀⓎ⏕ᖇ⋤ษ㛤⾡࡟ࡼࡿศፔࢆணᐃࡋ࡚࠸ࡓࡓࡵࠊ஦๓ࡍࡿ࡜⪃࠼ࡽࢀ࡚࠸ࡿࡀࠊࡑࡢ἞⒪ἲ࡟ࡘ࠸࡚ࡣ࠸

࡟ษ㛤ணᐃ㒊఩࿘ᅖࡢ⓶ୗ⭘⒗ࡢ᭷↓࡟ࡘࡁ⤒⓶ࡲࡔ☜❧ࡋ࡚࠾ࡽࡎࠊ⢭ᐦ᳨ᰝࡸ≧ἣ࡟ᛂࡌ࡚ᡭ⾡ⓗ㉸㡢Ἴ᩿ᒙἲ࡟ࡼࡿ᳨⣴ࢆ⾜ࡗࡓࡀࠊ≉࡟ၥ㢟࡜࡟ࡼࡿ⭘⒆ษ㝖࡞࡝ࠊᑐ⑕⒪ἲࢆ୰ᚰ࡜ࡋࡓ἞⒪ࡀ

࡞ࡿࡼ࠺࡞⭘⒗ࡣᏑᅾࡋ࡞࠿ࡗࡓࠋษ㛤ணᐃ㒊఩࿘୍⯡ⓗ࡛࠶ࡿ 1)ࠋᮏ⑕౛࡛ࡣᏙⓎ౛ࡢ NF1 ࡜デ᩿ᅖ࡟⓶ୗ⭘⒗ࡀ࠶ࡿሙྜࡣࠊᡭ⾡ࡢ㞀ᐖ࡟࡞ࡿྍ⬟ࡉࢀ࡚࠾ࡾࠊ⓶⭵⛉ࠊ║⛉ࠊ⪥㰯⛉ࠊ⬻⚄⤒እ⛉࡛ᛶࡀ࠶ࡾࠊᙜึ⭘⒗ࡀᏑᅾࡋ࡞࠿ࡗࡓ㒊఩࡛ࡶࠊዷࡢ⢭ᐦ᳨ᰝࡢ⤖ᯝࠊ୰ᯡ⚄⤒⣔ࡢ⭘⒆ࡸ║⑓ኚࡣ≉ፎ୰࡟ NF1 ࡀቑᝏࡍࡿࡇ࡜ࢆ⪃៖ࡋ࡚⓶ୗ⭘⒗ࡢ

࡟ㄆࡵ࡚࠸࡞࠿ࡗࡓࡀࠊ⓶⭵⭘⒆࡟ᑐࡋ࡚⭘⒆ษ㝖᳨⣴ࢆ⾜࠺ࡇ࡜ࡣࠊᡭ⾡ࢆ኱⚝࡞ࡃ㐙⾜ࡍࡿ࡜࠸࠺

⾡ࢆ 2 ᅇ᪋⾜ࡉࢀࠊ⑓⌮デ᩿࡛ࡶ⚄⤒⥺⥔⭘࡜デ᩿

ほⅬ࠿ࡽ㔜せ࡜⪃࠼ࡿࠋࡉࢀ࡚࠸ࡓࠋ ࡉࡽ࡟ NF1 ࡀ㑇ఏᛶ⑌ᝈ࡛࠶ࡿࡓࡵࠊ㑇ఏᏊデ NF1 ྜేዷፎ࡟ࡘ࠸࡚ࡣᵝࠎ࡞ሗ࿌ࡀ࠶ࡾࠊṚ᩿࡜ࡑࢀࢆ㋃ࡲ࠼ࡓ㑇ఏᏊ࢝࢘ࣥࢭࣜࣥࢢࡶ⪃៖⏘ 2) 3)ࠊ᪩⏘ 4)ࠊᏊᐑෆⓎ⫱୙඲ 2) 3)ࡢ㢖ᗘࡀୖ᪼ࡍࡍ࡭ࡁ࡛࠶ࡿࠋࡓࡔࡋ㑇ఏᏊ࢝࢘ࣥࢭࣜࣥࢢ࡟ࡘ࠸ࡿ࡜ሗ࿌ࡉࢀ࡚࠸ࡿࠋዷፎ㧗⾑ᅽ⑕ೃ⩌ࡢⓎ⑕㢖ᗘ࡚ࡣࠊᑓ㛛ࡢ▱㆑ࢆᣢࡗࡓ་ᖌࡢ࠸ࡿ᪋タ࡛⾜࠺ࡢࡀୖ᪼ࡍࡿ࡜ࡢሗ࿌ 5)ࡶ࠶ࡿ୍᪉ࠊ㏻ᖖ࡜ኚࢃࡽ࡞

ࡀᮃࡲࡋࡃࠊࡴࡸࡳ࡟ㄝ᫂ࡍ࡭ࡁෆᐜ࡛ࡣ࡞࠸ࡢ࡛࠸࡜ࡍࡿሗ࿌ 6)ࡶ࠶ࡾࠊᮍࡔ୍ᐃࡢぢゎࡣฟ࡚࠸࡞

ὀពࢆᡶ࠺ᚲせࡀ࠶ࡿࠋ㑇ఏᏊデ᩿ࢆ⾜࠺ࡇ࡜࡛ࠊ࠸ࠋ〓Ⰽ⣽⬊⭘ࢆྜేࡋࡓ⑕౛࡟࠾࠸࡚ࠊ㧗⾑ᅽ⥭௒ᚋඣࡀ NF1 ࢆⓎ⑕ࡍࡿ࠿࡝࠺࠿ࡣ᫂ࡽ࠿࡟࡞ࡿᛴ⑕ࡀཎᅉ࡛ẕయṚஸࢆᘬࡁ㉳ࡇࡋࡓ࡜࠸࠺ሗ࿌ 7)ࡶࡢࡢࠊ≉࡟ᝈ⪅ഃ࠿ࡽࡢᕼᮃࡀ࡞࠿ࡗࡓࡓࡵᮏ⑕ࡶ࠶ࡿࡓࡵࠊ≉࡟〓Ⰽ⣽⬊⭘࡟ࡘ࠸࡚ࡣὀពࢆせࡍ౛࡛ࡣ᪋⾜ࡋ࡚࠸࡞࠸ࠋ࡝ࡢࢱ࢖࣑ࣥࢢ࡛ඣࡀ NF1ࡿࠋࢆⓎ⑕ࡍࡿ࠿ண ࡣᅔ㞴࡞ࡓࡵࠊ௒ᚋ༙ᖺ࠿ࡽ 1 ᖺ ࡲࡓዷፎࡑࡢࡶࡢࡀ NF1 ࢆቑᝏࡉࡏࡿྍ⬟ᛶࡀ࠾ࡁ࡟ᑠඣ⛉࡛ᐃᮇⓗ࡞⤒㐣ほᐹࢆ⾜ࡗ࡚࠸ࡃண

࠶ࡿࡓࡵࠊNF1 ྜేዷ፬࡟࠾࠸࡚ࡣ NF1 ࡢ⮫ᗋീᐃ࡛࠶ࡿࠋࢆៅ㔜࡟⤒㐣ほᐹࡍࡿᚲせࡀ࠶ࡾࠊዷፎ⤒㐣ࡸ⑕≧࡟ࡼࡗ࡚ࡣཝ㔜࡞⟶⌮ࡀᚲせ࡜࡞ࡿࠋࡲࡓዷፎࢆዎ㸲 ⤖ㄒᶵ࡟Ⓨ⑕ࡋࠊデ᩿ࡉࢀࡓ⑕౛ࡶᑡ࡞ࡃ࡞࠸ 8) 9) 10)ࠋ

 ᡃࠎࡣ NF1 ྜే཮⫾࡟ᑐࡋ࡚ᖇ⋤ษ㛤⾡ࢆ᪋⾜ ᮏ⑕౛ࡢ≉ᚩ࡜ࡋ࡚཮⫾࡛࠶ࡿࡇ࡜ࡀᣲࡆࡽࢀࠊࡋࠊ≉࡟኱ࡁ࡞␗ᖖ࡞ࡃ⤒㐣ࡋࡓ 1 ౛ࢆ⤒㦂ࡋࡓࠋ཮⫾ࡑࡢࡶࡢࡀᵝࠎ࡞ዷፎྜే⑕ࡢ㢖ᗘࢆୖ᪼ࡉ

NF1 ྜేዷፎࡣࣁ࢖ࣜࢫࢡዷ፬࡜ࡋ࡚⟶⌮ࡋࠊணࡏࡿࡇ࡜ࡀྂࡃ࠿ࡽ▱ࡽࢀ࡚࠸ࡿ 11)ࠋNF1 ྜే཮ࡉࢀࡿᵝࠎ࡞ྜే⑕ࡢ᪩ᮇⓎぢ࡜ᑐฎࡀࠊᝈ⪅ࡢ⫾ࡢሗ࿌ࡣᑡ࡞ࡃࠊNF1 ྜే཮⫾࡟࠾ࡅࡿዷፎྜ

࿘⏘ᮇணᚋྥୖ࡟ᐤ୚ࡍࡿ࡜⪃࠼ࡽࢀࡓࠋࡲࡓࠊ㑇ే⑕ࡢⓎ⑕㢖ᗘ࡟ࡘ࠸࡚ࡣᮍࡔ୙࡛᫂࠶ࡿࡀࠊNF1ఏ⑌ᝈ࡜࠸࠺≉ᛶࢆ⪃៖ࡋࠊ㐺ษ࡞᪋タ࡛ࡢຍ⒪࡜ྜే཮⫾࡟ࡘ࠸࡚ࡣ≉࡟ࣁ࢖ࣜࢫࢡ࡞ዷ፬࡜ࡋ࡚ฟ⏕ᚋࡢඣࡢ⤒㐣ほᐹࡀ㔜せ࡛࠶ࡿࠋㄆ㆑ࡋࠊ⟶⌮ࡍࡿᚲせࡀ࠶ࡿ࡜⪃࠼ࡽࢀࡿࠋᮏ⑕౛
࡛ࡣ஦๓࡟ NF1 ࡜デ᩿ࡉࢀ࡚࠾ࡾࠊྛ⛉ࡢ⢭ᐦ᳨㸳 ᩥ⊩55⚄⤒⥺⥔⭘⑕ I ᆺྜే཮⫾ዷፎ1) ྜྷ⏣㞝୍ࠊஂಖ⏣⏤⨾Ꮚࠊ㔠⏣┾⌮ࠊ࡯࠿;⚄⤒⥺⥔⭘⑕ 1 ᆺ㸦ࣞࢵࢡࣜࣥࢢࣁ࢘ࢮࣥ⑓㸧ࡢデ᩿ᇶ‽࠾ࡼࡧ἞⒪࢞࢖ࢻࣛ࢖ࣥ ᪥ᮏ⓶⭵⛉Ꮫ
఍ㄅ 2008;118:1657-1666.
2) Segal D, Holcberg G, Sapir O, et. al.
Neurofibromatosis in pregnancy. Maternaland perinatal outcome. Euro J Obstet Reprod
Biol 1999;84:59-61
3) Weissman A, Jakobi P, Drugan A, et. al.
Neurofibromatosis and pregnancy. An update.
J Reprod Med 1993;38:890-896
4) Hadi HA. Clinical significance ofneurofibromatosis in pregnancy. Am J
Perinatol 1995;12:459-461
5) Sharma JB, Gulati N, Malik S. Maternal andperinatal complications in neurofibromatosis
during pregnancy. Int J Gynecol Obstet
1991;34:211-217
6) Dugoff L, Sujansky E. Neurofibromatosis
type 1 and pregnancy. Am J Med Genet
1996;66:7-10
7) Walther MM, Herring J, Linehan WM, et. al.
von Recklinghausen’s disease andpheochromocytomas. J Urol 1999;162:15821586
8) Ỉ୺ᕝ⣧ࠊᐃ᭶ࡳࡺࡁࠊ୰す⨾⣪⥴ࠊ࡯࠿;vonRecklinghausen ⑓㸦⚄⤒⥺⥔⭘⑕ 1 ᆺ㸧ྜే
ዷፎࡢ 1 ౛ ᪥ᮏ࿘⏘ᮇ᪂⏕ඣㄅ
2010;46:863-865
9) Kosec V, Marton I. Neurofibromatosis type 1in pregnancy. Coll Antropol 2006;30:247-249
10) Sangwan N, Duhan N. Normal obstetricoutcome in neurofibromatosis-1 complicating
pregnancy. JK science;2008:10:197-198
11) ᮧ㉺Ẏࠊୖ⏣ᩄᏊࠊᯇᮏ⨾ዉᏊࠊ࡯࠿;ከ⫾ዷፎࡢ▷ᮇཬࡧ㛗ᮇணᚋࡢ᳨ウ ᪥ᮏ࿘⏘ᮇ᪂⏕ඣㄅ 2005;41:750-755
12) Senoo M, Okamura K, Myrotsuki J, et. al.
Growth pattern of different chorionicity
evaluated by sonographic biometry. Obstet
Gynecol. 2000;95:656-661

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