| H01053 | |
| H番号 | H01053 |
| 名称 | 発作性夜間ヘモグロビン尿症 |
| 概要 | Paroxysmal nocturnal hemoglobinuria (PNH) is an uncommon intravascular hemolytic anemia that results from the clonal expansion of hematopoietic stem cells harboring somatic mutations in an X-linked gene, termed PIG-A. PIG-A is required for the biosynthesis of a lipid moiety, glycosylphosphatidylinositol (GPI), that attaches dozens of different proteins to the cell surface. PIG-A mutations block GPI anchor biosynthesis, resulting in a deficiency or absence of all GPI-anchored proteins on the cell surface. This deficiency on erythrocytes leads to intravascular hemolysis since certain GPI anchored proteins normally function as complement regulators. |
| カテゴリ | 血液疾患 |
| ネットワーク | - |
| 病因遺伝子 | (PNH1) PIGA [HSA:5277] [KO:K03857] (PNH2) PIGT [HSA:51604] [KO:K05292] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | ペグセタコプラン [DR:D11613] エクリズマブ [DR:D03940] ラブリズマブ [DR:D11054] |
| コメント | - |
| リンク | ICD-11: 3A21.0 ICD-10: D59.5 OMIM: 300818 615399 |
| 文献 | PMID:17852463 著者 Savage WJ, Brodsky RA タイトル New insights into paroxysmal nocturnal hemoglobinuria. 雑誌 Hematology 12:371-6 (2007) DOI:10.1080/10245330701562634 PMID:18063459 著者 Brodsky RA タイトル Advances in the diagnosis and therapy of paroxysmal nocturnal hemoglobinuria. 雑誌 Blood Rev 22:65-74 (2008) DOI:10.1016/j.blre.2007.10.002 PMID:8500164 (PIGA) 著者 Takeda J, Miyata T, Kawagoe K, Iida Y, Endo Y, Fujita T, Takahashi M, Kitani T, Kinoshita T タイトル Deficiency of the GPI anchor caused by a somatic mutation of the PIG-A gene in paroxysmal nocturnal hemoglobinuria. 雑誌 Cell 73:703-11 (1993) DOI:10.1016/0092-8674(93)90250-t PMID:23733340 (PIGT) 著者 Krawitz PM, Hochsmann B, Murakami Y, Teubner B, Kruger U, Klopocki E, Neitzel H, Hoellein A, Schneider C, Parkhomchuk D, Hecht J, Robinson PN, Mundlos S, Kinoshita T, Schrezenmeier H タイトル A case of paroxysmal nocturnal hemoglobinuria caused by a germline mutation and a somatic mutation in PIGT. 雑誌 Blood 122:1312-5 (2013) DOI:10.1182/blood-2013-01-481499 |