目

次はじめに ................................................................................................................................... p.1
小児慢性特定疾病 対象疾病一覧 .................................................................................................................. p.4
1 悪性新生物 ..........................................................................................................................................................................p.4
2 慢性腎疾患 ..........................................................................................................................................................................p.7
3 慢性呼吸器疾患群 ............................................................................................................................................................p.9
4 慢性心疾患 ..........................................................................................................................................................................p.9
5 内分泌疾患 ....................................................................................................................................................................... p.12
6 膠原病 ................................................................................................................................................................................ p.16
7 糖尿病 ................................................................................................................................................................................ p.17
8 先天性代謝異常.............................................................................................................................................................. p.17
9 血液疾患 ........................................................................................................................................................................... p.22
10 免疫疾患 ........................................................................................................................................................................ p.24
11 神経・筋疾患 ............................................................................................................................................................... p.26
12 慢性消化器疾患 ........................................................................................................................................................... p.29
13 染色体又は遺伝子に変化を伴う症候群 ............................................................................................................. p.30
14 皮膚疾患群 .................................................................................................................................................................... p.31

１ 悪性新生物 ..................................................................................... 1
概要 ......................................................................................................................................................................... 1

1. 血液腫瘍 ................................................................................................................................................................................ 1
2. 固形腫瘍 ................................................................................................................................................................................ 2
3. 中枢神経腫瘍 ....................................................................................................................................................................... 2

新規追加疾病............................................................................................................................................................ 2
申請で注意を要する点.......................................................................................................................................... 3
旧制度との比較で注意を要する点 ................................................................................................................... 3
制度改正に伴い対象外となった疾病............................................................................................................... 4その他（個別疾病の詳細など）........................................................................................................................ 41. 急性リンパ性白血病 ......................................................................................................................................................... 4
2. 神経芽腫 ................................................................................................................................................................................ 4
3. 髄芽腫 ..................................................................................................................................................................................... 5２ 慢性腎疾患 ..................................................................................... 6概

要 ......................................................................................................................................................................... 6新規追加疾病............................................................................................................................................................ 6・非典型溶血性尿毒症症候群 ............................................................................................................................................. 6

申請で注意を要する点.......................................................................................................................................... 6
制度改正前との比較で注意を要する点 .......................................................................................................... 7
制度改正に伴い対象外となった疾病............................................................................................................... 8その他（個別疾病の詳細など）........................................................................................................................ 8
1. 微小変化型ネフローゼ症候群 ....................................................................................................................................... 8
2. IgA 腎症 .................................................................................................................................................................................. 83. 低形成腎 ................................................................................................................................................................................ 8

３ 慢性呼吸器疾患.............................................................................. 9概

要 ......................................................................................................................................................................... 9

新規追加疾病............................................................................................................................................................ 9
1. 特発性間質性肺炎 .............................................................................................................................................................. 9
2. 肺胞微石症 ............................................................................................................................................................................ 9
1. 閉塞性細気管支炎 ........................................................................................................................................................... 10
2. リンパ管腫／リンパ管腫症 ......................................................................................................................................... 103. 先天性横隔膜ヘルニア .................................................................................................................................................. 10

申請で注意を要する点........................................................................................................................................11
旧制度との比較で注意を要する点 .................................................................................................................11
制度改正に伴い対象外となった疾病.............................................................................................................12
その他（個別疾病の詳細など）......................................................................................................................12
1. 気道狭窄 ............................................................................................................................................................................. 12
2. 気管支喘息 ......................................................................................................................................................................... 14
3. 先天性横隔膜ヘルニア .................................................................................................................................................. 16

４ 慢性心疾患 .................................................................................. 18
概

要 .......................................................................................................................................................................18

新規追加疾病..........................................................................................................................................................18
1. 肺静脈狭窄症 .................................................................................................................................................................... 18
2. フォンタン術後症候群 .................................................................................................................................................. 20

申請で注意を要する点........................................................................................................................................21
旧制度との比較で注意を要する点 .................................................................................................................22
制度改正に伴い対象外となった疾病.............................................................................................................22
その他（個別疾病の詳細など）......................................................................................................................22

５ 内分泌疾患 .................................................................................. 24
概

要 .......................................................................................................................................................................24

新規追加疾病..........................................................................................................................................................24
・中枢性塩喪失症候群 ........................................................................................................................................................ 24

申請で注意を要する点........................................................................................................................................25
旧制度との比較で注意を要する点 .................................................................................................................25
制度改正に伴い対象外となった疾病.............................................................................................................26
その他（個別疾病の詳細など）......................................................................................................................26
1. 成長ホルモン分泌不全性低身長症 ........................................................................................................................... 26
2. 思春期早発症 .................................................................................................................................................................... 26

６ 膠原病 ......................................................................................... 27
概

要 .......................................................................................................................................................................27

新規追加疾病..........................................................................................................................................................27
申請で注意を要する点........................................................................................................................................28
旧制度との比較で注意を要する点 .................................................................................................................28
制度改正に伴い対象外となった疾病.............................................................................................................28
そのほか（個別疾病の詳細など） .................................................................................................................29

1. 若年性特発性関節炎（JIA） ....................................................................................................................................... 29
2. 全身性エリテマトーデス（SLE） ............................................................................................................................. 29
3. 自己炎症性疾患（家族性地中海熱, CAPS, TRAPS, Blau/EOS 他）............................................................... 30

７ 糖尿病 ......................................................................................... 31
概

要 .......................................................................................................................................................................31

新規追加疾病..........................................................................................................................................................31
申請で注意を要する点........................................................................................................................................31
旧制度との比較で注意を要する点 .................................................................................................................34
制度改正に伴い対象外となった疾病.............................................................................................................34
そのほか（個別疾病の詳細など） .................................................................................................................34
1. １型糖尿病 ......................................................................................................................................................................... 34
2. ２型糖尿病 ......................................................................................................................................................................... 35
3. 若年発症成人型糖尿病 (以下 MODY) ..................................................................................................................... 36

８ 先天性代謝異常........................................................................... 37
概要 .......................................................................................................................................................................37

新規追加疾病..........................................................................................................................................................37
申請で注意を要する点........................................................................................................................................37
旧制度との比較で注意を要する点 .................................................................................................................37
制度改正に伴い対象外となった疾病.............................................................................................................38
そのほか（個別疾病の詳細など） .................................................................................................................38
1. フェニルケトン尿症 ...................................................................................................................................................... 38
2. ムコ多糖症 II 型 ............................................................................................................................................................... 38
3. 糖原病 I 型 ......................................................................................................................................................................... 38

９ 血液疾患 ...................................................................................... 40
概要 .......................................................................................................................................................................40

A. 診断根拠 ............................................................................................................................................................................. 40
B. 臨床経過 ............................................................................................................................................................................. 41
C. 治療必要性について ...................................................................................................................................................... 41

新規追加疾病..........................................................................................................................................................41
1. ファンコニ貧血................................................................................................................................................................ 41
2. 再生不良性貧血................................................................................................................................................................ 41

申請で注意を要する点........................................................................................................................................42
旧制度との比較で注意を要する点 .................................................................................................................43
制度改正に伴い対象外となった疾病.............................................................................................................43
その他（個別疾病の詳細など）......................................................................................................................43
1. 再生不良性貧血................................................................................................................................................................ 43
2. 免疫性血小板減少性紫斑病 ......................................................................................................................................... 44
3. 血友病Ａ ............................................................................................................................................................................. 44

10 免疫疾患 .................................................................................... 45
概要 .......................................................................................................................................................................45

1. 複合免疫不全症 (CID) ................................................................................................................................................... 45
2. 免疫不全症を伴う特徴的な症候群 ........................................................................................................................... 45
3. 液性免疫不全を主とする疾患 .................................................................................................................................... 45
4. 免疫調節障害 .................................................................................................................................................................... 45
5. 原発性食細胞機能不全症および欠損症 .................................................................................................................. 45
6. 自然免疫不全症................................................................................................................................................................ 46

新規追加疾病..........................................................................................................................................................46
・自己免疫性リンパ増殖症候群 (ALPS) ...................................................................................................................... 46

申請で注意を要する点........................................................................................................................................46
制度改正前との比較で注意を要する点 ........................................................................................................47
制度改正に伴い対象外となった疾病.............................................................................................................47
その他（個別疾病の詳細など）......................................................................................................................48
1. ウイスコット·オルドリッチ（Wiskott-Aldrich）症候群 (WASP ) .............................................................. 48
2. 毛細血管拡張性運動失調症 (ATM ) ......................................................................................................................... 48
3. 胸腺低形成（DiGeorge 症候群、22q11.2 欠失症候群） ................................................................................ 48
4. 高 IgE 症候群 (STAT3, DOCK8, (TYK2 )) ............................................................................................................... 48
5. 先天性角化異常症 (TERC, TERT, DKC1, DKC2, DKCA3, DKCB2, DKCB3, DKCB5, RTEL1, TINF1 など) ............................................................................................................................................................................................... 48
6. Ｘ連鎖リンパ増殖症候群 ............................................................................................................................................. 49

7. 重症先天性好中球減少症（ELANE, GFI1, HAX1, G6PC3, VPS45, JAGN1 ） ........................................ 49
8. 周期性好中球減少症（ELANE ） ............................................................................................................................. 49
9. 35 及び 36 に掲げるもののほか、慢性の経過をたどる好中球減少症(G6PT1, WAS, TAZ, COH1,C16ORF57, など) ................................................................................................................................................................. 49
10. 白血球接着不全症（ITGB2, SLC35C1, FERMT3 ） ....................................................................................... 50
11. シュワッハマン・ダイアモンド（Shwachman-Diamond）症候群（SBDS）....................................... 50
12. 慢性肉芽腫症（CYBB, CYBA, NCF1, NCF2, NCF4 ）..................................................................................... 50
13. ミエロペルオキシダーゼ欠損症（MPO ）........................................................................................................ 50
14. メンデル遺伝型マイコバクテリア易感染症（IFNGR1, STAT1, IFNGR2, IL12RB1, IL12B, ISG15,IRF8, TYK2, NRMO など） ................................................................................................................................................ 50
15. 38 から 42 までに掲げるもののほか、白血球機能異常 (GATA2, CSF2A, など) ................................ 51
16. 免疫不全を伴う無汗性外胚葉形成異常症 ........................................................................................................... 51
17. IRAK4 欠損症、MyD88 欠損症 ............................................................................................................................... 51
18. 慢性皮膚粘膜カンジダ症........................................................................................................................................... 51
19. 孤立性先天性無脾症 .................................................................................................................................................... 51

11 神経・筋疾患 ............................................................................. 52
概要 .......................................................................................................................................................................52

1. 形成異常・脳奇形 ........................................................................................................................................................... 52
2. 遺伝子異常に伴う病態 .................................................................................................................................................. 52
3. 変性疾患 ............................................................................................................................................................................. 52
4. 不随意運動・片麻痺発作などの運動異常.............................................................................................................. 52
5. 難治てんかんを主とする病態 .................................................................................................................................... 52
6. 感染・免疫関連疾患 ...................................................................................................................................................... 52
7. 脳外科・外科系疾患 ...................................................................................................................................................... 53
8. 末梢神経障害 .................................................................................................................................................................... 53
9. 筋疾患 .................................................................................................................................................................................. 53

新規追加疾病..........................................................................................................................................................53
申請で注意を要する点........................................................................................................................................54
制度改正前との比較で注意を要する点 ........................................................................................................54
制度改正に伴い対象外となった疾病.............................................................................................................55
その他（個別疾病の詳細など）......................................................................................................................55
1. 脊髄髄膜瘤 ......................................................................................................................................................................... 552. 脳形成障害 ......................................................................................................................................................................... 55

3. 早老症 .................................................................................................................................................................................. 55
4. 先天性ミオパチー ........................................................................................................................................................... 55

12 慢性消化器疾患 ......................................................................... 56
概要 .......................................................................................................................................................................56

新規追加疾病..........................................................................................................................................................57
申請で注意を要する点........................................................................................................................................58
制度改正前との比較で注意を要する点 ........................................................................................................58
制度改正に伴い対象外となった疾病.............................................................................................................59
その他（個別疾病の詳細など）......................................................................................................................59
胆道閉鎖症 ............................................................................................................................................................................... 59

13 染色体又は遺伝子に変化を伴う症候群 .................................................. 61
概 要 .........................................................................................................................................................................61
染色体に変化を伴う症候群（染色体異常による先天異常症候群） ..................................................61【G banding 法・G 分染法（保険収載）】 ................................................................................................................... 61【FISH 法（一部、保険収載）】 ...................................................................................................................................... 61【マイクロアレイ染色体検査（保険収載されていない）】.................................................................................. 62

遺伝子に変化を伴う症候群（遺伝子異常による先天異常症候群） ..................................................62【遺伝子検査（保険収載されていない）】 ................................................................................................................. 62

その他 .......................................................................................................................................................................63【DNA メチル化検査（保険収載されていない）】 .................................................................................................. 63「染色体又は遺伝子に変化を伴う症候群」が疑われる場合の診察法について............................63
新規追加疾病..........................................................................................................................................................64
申請で注意を要する点........................................................................................................................................64
制度改正前との比較で注意を要する点 ........................................................................................................65
制度改正に伴い対象外となった疾病.............................................................................................................65
その他（個別疾病の詳細など）......................................................................................................................65
1. 18 トリソミー症候群 ..................................................................................................................................................... 65
2. ダウン（Down）症候群 ............................................................................................................................................... 66

14 皮膚疾患 .................................................................................... 67
概

要 .......................................................................................................................................................................67

新規追加疾病..........................................................................................................................................................67
1. 膿疱性乾癬（汎発型） .................................................................................................................................................. 67
2. レックリングハウゼン病（神経線維腫症 I 型） ................................................................................................. 68

申請で注意を要する点........................................................................................................................................68
1. 眼皮膚白皮症 .................................................................................................................................................................... 69
2. 色素性乾皮症 .................................................................................................................................................................... 69

制度改正に伴い対象外となった疾病.............................................................................................................70
その他（個別疾病の詳細など）......................................................................................................................70
1. 先天性魚鱗癬 .................................................................................................................................................................... 70
2. 表皮水疱症 ......................................................................................................................................................................... 71

参考資料 1 ............................................................................................ i
医療意見書の書き方 ................................................................................................................................................ i

参考資料 2 ........................................................................................... v
小児慢性特定疾病 重症患者認定基準 ............................................................................................................. v

謝

辞 .................................................................................................. x

協力学会一覧 ....................................................................................... x