Hereditary Sensory and Autonomic Neuropathy With Autonomic Crises: A Turkish Variant of Familial Dysautonomia?
Hereditary Sensory and Autonomic Neuropathy With Autonomic Crises: A Turkish Variant of Familial Dysautonomia?
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DOI：
10.1177/0883073811416664
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发表时间：
2012-02-01
影响因子：
1.9
通讯作者：
Tibussek, Daniel
中科院分区：
文献类型：
--
作者：
Koy, Anne;Freynhagen, Rainer;Tibussek, Daniel
遗传性感觉神经病和自主神经病有不同的表型。我们报告了两位表兄弟姐妹患有遗传性感觉和自主神经病的不同临床病程。病例 1 的进展性疾病主要表现为感觉丧失、自主神经危机和疼痛。病例2表现出感觉丧失、智力低下和耳聋，临床上与II型遗传性感觉和自主神经病患者相似。病例 1 中与遗传性感觉和自主神经病相关的所有已知基因的详细分子研究结果均为阴性。然而，1 个亲属内出现 2 例病例，很可能具有共同的遗传背景。因此，我们建议这 2 名患者存在土耳其家族性自主神经功能障碍的变体。
Hereditary sensory and autonomic neuropathies have different phenotypes. We report 2 cousins with differing clinical courses of a hereditary sensory and autonomic neuropathy. The progressive disease in case 1 is dominated by loss of sensation, autonomic crises, and pain. Case 2 shows loss of sensation, mental retardation, and deafness, clinically similar to patients with hereditary sensory and autonomic neuropathy type II. Detailed molecular studies in case 1 for all known genes that are associated with hereditary sensory and autonomic neuropathies were negative. However, the occurrence of the 2 cases within 1 kindred makes a common genetic background likely. We, therefore, propose a Turkish variant of familial dysautonomia in these 2 patients.