1型および3型ゴーシェ病の酵素置換療法
B Bembi1, M Zanatta, M Carrozzi
1Istituto di Clinica Pediatrica, Università di Trieste, IRCCS Burlo Garofolo, Italy.
Lancet (London, England)
|December 17, 1994
まとめ
アルグルセラーゼによる酵素置換療法は,神経学的関わりのある患者を含む,ゴッシャー病の患者を改善しました. 低用量,週2回の注入は,タイプ1のゴッシャー病に有効であり,治療費を削減します.
科学分野:
- バイオケミストリー バイオケミストリー
- 遺伝学 遺伝学とは
- 小児科は小児科です.
背景:
- 酵素置換療法 (ERT) は,神経学的関与なしに,ゴッシャー病1型患者の寿命を改善しました.
- 神経学的関わりを持つゴッシャー病患者のERTの有効性は,依然としてほとんど不明です.
- ゴッシャー病は,グルコセレブロシダースの活動が欠乏したために引き起こされるリソソーム性貯蔵障害です.
研究 の 目的:
- ガッシャー病1型および3型のイタリア人患者における静脈内アルグルセラゼの有効性と安全性を評価する.
- 神経学的症状や成長を含む臨床的症状に対するERTの影響を評価する.
- 遺伝子型-フェノタイプ相関と特定の変異の頻度を調査する.
主な方法:
- 12人のイタリア人患者の治療 (9型1,3型3) 静脈注入アルグルセラーゼで,投与量と輸液頻度が異なる.
- 成長,臓器のサイズ,血液学的指標,神経学的状態などの臨床パラメータのモニタリング.
- 変異,特に1448Cアレルを特定するためのゲノタイプ分析.
主要な成果:
- すべての患者は,子供の成長再開,と肝臓のサイズ減少を含む臨床的改善を示しました.
- 神経学的症状のある1人のタイプ3患者は,2年間の治療後に精神運動能力とIQの改善を示した.
- 研究室検査では,ヘモグロビンの急速な増加と,血小板閉塞の遅い反応を示し,4人の患者で一時的な低カルシウム血症が発生しました.
- 1448C変異の高頻度 (54.5%) が観察され,特定のイタリアの地域を起源とするキャリアが観察されました.
結論:
- 静脈内アルグルセラーゼは,神経学的関与を有する患者を含む,タイプ1およびタイプ3のゴッシャー病の治療に有効です.
- 1型ゴッシャー病に対する低用量,2週間に一度のERTは,費用対効果が高く,入院期間を短縮することができます.
- 1448C変異は,イタリアの特定の集団で流行しており,潜在的な創設者効果を示唆しています.
関連する概念動画
Gene Therapy
Gene therapy is a technique where a gene is inserted into a person’s cells to prevent or treat a serious disease. The added gene may be a healthy version of the gene that is mutated in the patient, or it could be a different gene that inactivates or compensates for the patient’s disease-causing gene. For example, in patients with severe combined immunodeficiency (SCID) due to a mutation in the gene for the enzyme adenosine deaminase, a functioning version of the gene can be inserted. The...
Mitral Regurgitation III: Medical Management
Mitral regurgitation (MR) is characterized by retrograde blood circulation from the left ventricle into the left atrium due to inadequate mitral valve closure. The severity of the condition, symptoms, and underlying cause determine treatment strategies.Monitoring and Pharmacological TreatmentPatients with mild to moderate MR typically do not need immediate intervention but regular monitoring to assess progression and guide treatment. Patients with mild MR should have an echocardiogram every 3-5...
Mitral Stenosis III: Medical Management
Mitral stenosis, a condition marked by the narrowing of the mitral valve, necessitates an integrated approach for effective management. This approach includes preventative measures, medical therapy, and surgical interventions to reduce symptoms and prevent complications.PreventionPrevention of mitral stenosis primarily focuses on reducing the incidence of bacterial infections, particularly streptococcal infections, which can lead to rheumatic fever and subsequent valvular damage. Timely...
Myocarditis III: Medical Management
Myocarditis: Comprehensive Medical ManagementMyocarditis, the heart muscle inflammation, requires a comprehensive medical management strategy that addresses the underlying cause, provides supportive care, manages symptoms, and reduces cardiac workload.Infections and Autoimmune CausesAdminister appropriate antimicrobial therapy when an infectious agent causes myocarditis. For instance, penicillin treats infections caused by Group A Streptococcus. In cases where autoimmune processes are...
Cardiomyopathy III: Hypertrophic Cardiomyopathy
Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
Kidney Transplant III: Nursing Management
Postoperative Nursing Management for Kidney Transplant PatientsPostoperative nursing management care includes monitoring the surgical site, encouraging early movement, and promoting lung health through breathing exercises. Nurses also administer prescribed medications like H2-blockers, such as famotidine, or proton pump inhibitors, like omeprazole, to help prevent gastrointestinal ulcers and bleeding. Fungal infections in the mouth and bladder can result from immunosuppressive and antibiotic...


