Autoimmune polyendocrinopathy associated with ring chromosome 18
Autoimmune polyendocrinopathy associated with ring chromosome 18
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与 18 号环染色体相关的自身免疫性多内分泌病
DOI：
10.1515/jpem.2011.320
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发表时间：
2011
影响因子：
0.7
通讯作者：
A. Çalikoğlu
中科院分区：
文献类型：
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作者：
N. Jain;P. J. Reitnauer;K. Rao;A. Aylsworth;A. Çalikoğlu
摘要18号环状染色体[r(18)]个体的表型和临床特征随短臂(18p-)或长臂(18q-)缺失的程度而不同。因此，大多数r(18)患者都表现出18p和18q缺失的临床谱系。矮小、小头畸形、智力和运动发育迟缓、颅面畸形和四肢畸形是r(18)患者最常见的特征。18号染色体异常，特别是18P综合征，常见于自身免疫性甲状腺疾病和生长激素缺乏，但与r(18)相关的内分泌异常的报道很少见。在此，我们报告一例患有甲亢、1型糖尿病、白癜风和与r(18)染色体互补相关的IgA缺乏症的非裔美国女性。这名患者还伴有轻度智力残疾和畸形特征。核型分析显示18号环状染色体(缺失18q23-18qter和缺失18p11.3-18pert)。虽然这种自身免疫性多腺性内分泌疾病与18号环状染色体的独特关联可能是巧合的，但我们推测18号染色体上的一个或多个基因可能在自身免疫过程中发挥作用。
Abstract Phenotypic and clinical features of individuals with ring chromosome 18 [r(18)] vary with the extent of deletion of the short (18p-) or long arm (18q-). Most patients with r(18), therefore, demonstrate a clinical spectrum of both 18p- and 18q- deletions. Short stature, microcephaly, mental and motor retardation, craniofacial dysmorphism and extremity abnormalities are the most commonly reported features in patients with r(18). Abnormalities of chromosome 18, especially 18p- syndrome, are often reported with autoimmune thyroid disease and growth hormone deficiency, but reports of endocrine abnormalities associated with r(18) are rare. Here, we report a case of an African-American female with hyperthyroidism, type 1 diabetes mellitus, vitiligo and IgA deficiency associated with a r(18) chromosome complement. This patient additionally had mild intellectual disability and dysmorphic features. Karyotype analysis showed a de novo ring chromosome 18 (deletion 18q23-18qter and deletion 18p11.3-18pter). Although this unique association of autoimmune polyglandular endocrinopathy with ring chromosome 18 could be coincidental, we speculate that a gene or genes on chromosome 18 might play a role in the autoimmune process.