Markova T G, Geptner E N, Lalayants M R, Zelikovich E I, Chugunova T I, Mironovich O L, Bliznetz E A, Polyakov A V, Tavartkiladze G A
National Research Centre for Audiology and Hearing Rehabilitation, Russian Medico-Biological Agency, Moscow, Russia, 117513; Russian Medical Academy of Post-Graduate Education, Moscow, Russia, 125993.
National Research Centre for Audiology and Hearing Rehabilitation, Russian Medico-Biological Agency, Moscow, Russia, 117513.
Vestn Otorinolaringol. 2016;81(6):25-31. doi: 10.17116/otorino201681625-31.
The aim of this work was a clinical study of the patients with mutations in the SLC26A4 gene and clinical diagnosis of the Pendred syndrome. The Pendred syndrome is a hereditary autosomal recessive disorder characterized by combined pathology of the inner ear and the thyroid gland. CT of the temporal bones demonstrates the Mondini-type structural anomaly in the inner ear and enlarged vestibular aqueduct. Examination of the thyroid gland reveals hypothyroidism and euthyroid goiter. A total of 20 unrelated children at the age from 2 to 16 years presenting with the hearing loss of different severity were available for the examination. High-resolution CT of the temporal bones demonstrated abnormal development of the inner ear including the Mondini-type structural anomaly and enlarged vestibular aqueduct. Five children with congenital hypothyroidism suffered from bilateral sensorineural impairment of hearing. The routine methods of audiological and molecular genetic examination were used throughout the study.
As a result of molecular genetic studies, four out of the 20 patients were found to carry six recessive mutations of the SLC26A4 gene in the compound heterozygous and one such gene in the homozygous state which confirmed the hereditary nature of the disease. The children suffered the hearing loss of varying severity diagnosed at different age. The thyroid hypofunction in one child was identified when it was 2 years of age, and in two children at the age of 8 and 9 years.
The first step in the diagnosis of the Pendred syndrome among children with congenital hearing loss was a CT scan of the temporal bones that showed incomplete separation of the curls of the cochlea and enlarged vestibular aqueduct. It is necessary to continue to study epidemiology, clinical and molecular genetics of the Pendred syndrome in the Russian population.
本研究旨在对SLC26A4基因突变患者进行临床研究，并对 Pendred 综合征进行临床诊断。Pendred 综合征是一种常染色体隐性遗传性疾病，其特征为内耳和甲状腺联合病变。颞骨CT显示内耳呈Mondini型结构异常及前庭导水管扩大。甲状腺检查发现甲状腺功能减退和甲状腺肿。共有20名年龄在2至16岁之间、患有不同程度听力损失的非亲属儿童接受了检查。颞骨高分辨率CT显示内耳发育异常，包括Mondini型结构异常和前庭导水管扩大。5名先天性甲状腺功能减退的儿童患有双侧感音神经性听力障碍。在整个研究过程中使用了听力学和分子遗传学检查的常规方法。
分子遗传学研究结果显示，20例患者中有4例在复合杂合状态下携带6个SLC26A4基因的隐性突变，1例为纯合状态，证实了该病的遗传性。这些儿童在不同年龄被诊断出患有不同程度的听力损失。1名儿童在2岁时被确诊甲状腺功能减退，2名儿童分别在8岁和9岁时被确诊。
对于先天性听力损失儿童，诊断Pendred综合征的第一步是进行颞骨CT扫描，其显示耳蜗蜗管未完全分离和前庭导水管扩大。有必要继续研究俄罗斯人群中Pendred综合征的流行病学、临床和分子遗传学。
