＿＿＿＿＿＿＿＿＿＿＿＿＿＿＿＿＿＿＿＿＿＿＿＿＿＿＿
 | This article needs additional citations for verification. Please help improve this article by adding reliable references. Unsourced material may be challenged and removed. (January 2008) |
| Bernard-Soulier syndrome | |
|---|---|
| Classification and external resources | |
| ICD-10 | D69.1 |
| ICD-9 | 287.1 |
| OMIM | 231200 |
| DiseasesDB | 1356 |
| eMedicine | ped/230 |
| MeSH | D001606 |
Bernard-Soulier syndrome (BSS), also called hemorrhagiparous thrombocytic dystrophy,[1], is a rare autosomal recessive coagulopathy (bleeding disorder) that causes a deficiency of glycoprotein Ib (GpIb), the receptor for von Willebrand factor, which is important in clot formation.
The incidence is estimated to be less than 1 in 1 million persons, based on cases reported from Europe, North America, and Japan.[2]
It is a Giant Platelet Syndrome that is characterized by abnormally large platelets.
Contents[hide] |
Characterized by prolonged bleeding time, thrombocytopenia, giant platelets, and decreased platelet survival, Bernard–Soulier syndrome (BSS) is associated with quantitative or qualitative defects of the platelet glycopotein complex GPIb/V/IX. The degree of thrombocytopenia may be estimated incorrectly, due to the possibility that when the platelet count is performed with automatic counters, giant platelets, which may be as frequent as 70–80% in occasional patients, may reach the size of red blood cells and, as a consequence, are not recognized as platelets by the counters. Typically, BSS platelets do not agglutinate to ristocetin, and this defect is not corrected by the addition of normal plasma, distinguishing it from Von Willebrand disease. The platelet responses to physiologic agonists is normal, with the exception of low concentrations of thrombin. Bleeding events, which may be very severe, can be controlled by platelet transfusion. Most heterozygotes, with few exceptions, do not have a bleeding diathesis.
It presents as a bleeding disorder due to the inability of platelets to bind and aggregate at sites of vascular endothelial injury. [3]
Condition | Prothrombin time | Partial thromboplastin time | Bleeding time | Platelet count |
|---|---|---|---|---|
| Vitamin K deficiency or Warfarin | prolonged | prolonged | unaffected | unaffected |
| Disseminated intravascular coagulation | prolonged | prolonged | prolonged | decreased |
| Von Willebrand disease | unaffected | prolonged | prolonged | unaffected |
| Haemophilia | unaffected | prolonged | unaffected | unaffected |
| Aspirin | unaffected | unaffected | prolonged | unaffected |
| Thrombocytopenia | unaffected | unaffected | prolonged | decreased |
| Early Liver failure | prolonged | unaffected | unaffected | unaffected |
| End-stage Liver failure | prolonged | prolonged | prolonged | decreased |
| Uremia | unaffected | unaffected | prolonged | unaffected |
| Congenital afibrinogenemia | prolonged | prolonged | prolonged | unaffected |
| Factor V deficiency | prolonged | prolonged | unaffected | unaffected |
| Factor X deficiency as seen in amyloid purpura | prolonged | prolonged | unaffected | unaffected |
| Glanzmann's thrombasthenia | unaffected | unaffected | prolonged | unaffected |
| Bernard-Soulier syndrome | unaffected | unaffected | prolonged | decreased |
The syndrome is named after Dr. Jean Bernard and Jean Pierre Soulier.[4][5]
There are three forms:[6]
固定リンク | コメント (0) | トラックバック (0)
| 日 | 月 | 火 | 水 | 木 | 金 | 土 |
|---|---|---|---|---|---|---|
| 1 | 2 | 3 | 4 | 5 | ||
| 6 | 7 | 8 | 9 | 10 | 11 | 12 |
| 13 | 14 | 15 | 16 | 17 | 18 | 19 |
| 20 | 21 | 22 | 23 | 24 | 25 | 26 |
| 27 | 28 | 29 | 30 | 31 |
コメント
コメントはまだありません。
コメントを書く