高リスク患者群

PNH患者さんの適切な治療と長期予後のためには早期診断が重要です3,11

高リスク群においてPNH患者さんを早期に同定します2-4,9,12,16,26-33,35-38,40

溶血(↑LDH または↓網赤血球数または↓ハプトグロビン)

クームス試験陰性の溶血性貧血 ヘモグロビン尿またはヘモジデリン尿 腎障害
末梢血の高感度フローサイトメトリーによるPNHの検査3

骨髄機能不全

再生不良性貧血 MDS

以下のいずれかを認める

  • 溶血
  • 低形成
  • 難治性血球減少症
末梢血の高感度フローサイトメトリーによるPNHの検査3

原因不明の血栓症

血球減少症

以下のいずれかを認める

  • 溶血
  • 難治性IDA
  • 治療抵抗性
  • 血栓症
静脈血栓症または動脈血栓症

以下のいずれかを認める

  • 溶血
  • まれな部位の血栓症*
  • 血球減少症
  • 抗凝固薬抵抗性
末梢血の高感度フローサイトメトリーによるPNHの検査3

IDA:鉄欠乏性貧血、MDS:骨髄異形成症候群
* まれな部位とは、肝静脈(バッド・キアリ症候群)、他の腹腔内静脈(門脈、脾静脈、内臓静脈)、脳静脈洞、皮静脈など。
† PNH型血球の閾値0.01%

現行の医科診療報酬制度においては、赤血球表面抗原検査はPNHの鑑別診断のため2種類のモノクローナル抗体を用いた場合に診療報酬を算定できるとされており、顆粒球検査は算定の対象外です(2016年4月現在)。

  • 国際臨床サイトメトリー学会(ICCS**)ガイドラインおよび他の複数の専門家により、PNHのリスクの高い患者集団が明らかにされています2-4,9,12,16,26-33,35-38,40
  • PNH型血球を同定することは、予後や治療の判定に重要です26,41
  • ICCSガイドラインとIPIG***は、PNHリスクの高い患者さんの継続的なモニタリングを推奨しています3,26
  • 日本PNH研究会によるOPTIMA試験の中間解析データでは、骨髄不全症候群またはPNHの疑いのある症例1,739例中607例(34.9%)がPNH型血球陽性であり、そのうちの172例(9.9%)で1%以上のPNH型血球が検出されました42
  • PNHの治療には有効な選択肢があるので、PNHリスクの高い患者さんへの検査が重要です3,43
  • 発作性夜間ヘモグロビン尿症診療の参照ガイド平成26年度改訂版では「PNHタイプ赤血球(Ⅲ型)が1%以上で、血清LDH値が正常上限の1.5倍以上であれば、臨床的PNHと診断してよい。」とされています27

**ICCS:International Clinical Cytometry Society
***IPIG:International PNH Interest Group

#試験概要(OPTIMA試験)
AA、MDS、PNHおよびその他の骨髄不全症候群とPNHが疑われる症例を対象とし、金沢大学で開発された高精度フローサイトメトリーを用いてPNH型血球を検出した。解析を行う6施設において、クロスバリデーションを行い、検出感度やカットオフ値などに施設間の差がないことを確認した。PNH型顆粒球の検出には液状FLAER法(≧0.003%)、PNH型赤血球の検出には抗CD55抗体と抗CD59抗体のカクテル法(≧0.005%)を用いた。

 
 

PNH の多様なありふれた症状のため、診断が遅くなってしまう可能性があります。PNH患者さんで起こりうるさまざまな症状について調べてみましょう

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