Treatment of classic pantothenate kinase-associated neurodegeneration with deferiprone and intrathecal baclofen.
Treatment of classic pantothenate kinase-associated neurodegeneration with deferiprone and intrathecal baclofen.
复制标题
用去铁酮和鞘内注射巴氯芬治疗经典的泛酸激酶相关神经变性。
DOI：
10.1097/phm.0b013e318282d209
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发表时间：
2013
影响因子：
3
通讯作者：
Neufeld,JacobA
中科院分区：
文献类型：
--
作者：
Pratini,NapalaR;Sweeters,Nancy;Vichinsky,Elliott;Neufeld,JacobA
神经退行性变伴脑铁蓄积(NBIA)描述了一种以高脑铁为特征的异质性疾病家族，尤其是在基底节。儿童NBIA最常见的表现是典型的泛酸激酶相关神经变性(PKAN)，这是一种严重的进展型常染色体隐性遗传性神经轴索营养不良，以早期症状为特征(与非典型PKAN相反，平均发病年龄为14岁)。目前还没有针对这种疾病的既定治疗方法。鞘内注射巴氯芬已被报道可改善PKAN患者的护理简易性和肌张力障碍。去铁酮是一种铁络合剂，已被证明对PKAN患者是安全和耐受的，并且根据磁共振成像的测量，它在减少脑内铁积累方面是有效的。这一病例报告强调了鞘内注射巴氯芬和口服去铁酮在典型PKAN患者中的有效性。虽然没有尝试单独使用去铁酮治疗，但这种联合治疗似乎比单独鞘内注射巴氯芬更有效。
Neurodegeneration with brain iron accumulation (NBIA) describes a heterogeneous family of diseases characterized by high brain iron, particularly in the basal ganglia. The most common manifestation of childhood NBIA is classic pantothenate kinase–associated neurodegeneration (PKAN), a severe, progressive type of autosomal recessive neuroaxonal dystrophy characterized by early onset of symptoms (as opposed to atypical PKAN, with an average age of onset of 14 yrs). There is currently no established therapy for the disease. Intrathecal baclofen has been reported to improve ease of care and dystonia in patients with PKAN. Deferiprone, an iron chelator, has been shown to be safe and tolerable in patients with PKAN as well as effective in reducing brain iron accumulation, as measured by magnetic resonance imaging. This case report highlights the potency of combining intrathecal baclofen and oral deferiprone in a patient with classic PKAN. Although treatment with deferiprone alone was not attempted, this combination therapy seems to be more efficacious than treatment with only intrathecal baclofen.