Screening Children with a Family History of Central Congenital Hypoventilation Syndrome.
Screening Children with a Family History of Central Congenital Hypoventilation Syndrome.
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筛查有中枢性先天性通气不足综合征家族史的儿童。
DOI：
10.1155/2020/2713606
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发表时间：
2020
影响因子：
0.9
通讯作者：
Mosquera,RicardoA
中科院分区：
文献类型：
--
作者：
Emanuel,Hina;Rennie,Kimberly;Macdonald,Kelly;Yadav,Aravind;Mosquera,RicardoA
先天性中枢性通气不足综合征（CCHS）是一种影响呼吸的自主神经障碍的罕见遗传性疾病。其特征是继发于对低氧血症和高碳酸血症不敏感的呼吸功能不全，特别是在睡眠期间导致持续性呼吸暂停。我们报告了两代人中的四名个体在 PHOX2B 中携带杂合 25 聚丙氨酸重复突变 (PARM)，并具有不同程度的表型临床表现。两名自称“无症状”的家庭成员随后根据家族史进行的基因检测被诊断为 CCHS。除了全面的临床评估之外，对包括一名母亲和三个后代在内的家庭进行的遗传研究显示，PHOX2B 的框内 5 个氨基酸 PARM 与 CCHS 一致。所有受影响的个体在血气分析中都有高碳酸血症的证据，PCO2 在 32-70 范围内（平均为 61）。夜间多导睡眠图显示两个个体（1 个后代和母亲）存在通气不足的证据，呼气末 CO2 中位数为 54。大脑磁共振成像显示脑干没有异常。所有个体的超声心动图均未发现肺心病的证据。对所有四名患者进行了神经心理学测试；两名患者（母亲和 1 名后代）的结果正常，而另外两名后代在神经心理学测试中表现出一些损伤。该病例系列强调了筛查确诊 CCHS 患者的一级亲属的重要性，以尽量减少与长期通气障碍相关的并发症。它还建议一些 CCHS 患者应该接受神经心理学评估，以评估继发于 CCHS 的认知缺陷。
Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder of an autonomic nervous disorder that affects breathing. It is characterized by respiratory insufficiency secondary to insensitivity to hypoxemia and hypercarbia, particularly during sleep leading to persistent apnea. We report four individuals across two generations harboring heterozygous 25 polyalanine repeats mutations (PARMs) in PHOX2B with a varying degree of phenotypic clinical manifestations. Two family members who reported to be “asymptomatic” were subsequently diagnosed with CCHS, based on genetic testing, obtained because of their family history. Genetic studies in the family including a mother and three offsprings revealed in‐frame five amino acid PARMs of PHOX2B consistent with CCHS in addition to full clinical assessment. All affected individuals had evidence of hypercapnia on blood gas analysis with PCO2in the range of 32–70 (mean; 61). Nocturnal polysomnogram revealed evidence of hypoventilation in two individuals (1 offspring and mother) with the end‐tidal CO2median of 54. Magnetic resonance imaging of brain revealed no abnormalities in the brain stem. There was no evidence of cor pulmonale on echocardiograms in all individuals. Neuropsychological testing was conducted on all four patients; two patients (mother and 1 offspring) had normal results, while the other two offspring exhibited some impairments on neuropsychological testing. This case series emphasizes the importance of screening first‐degree relatives of individuals with confirmed CCHS to minimize complications associated with long‐term ventilatory impairment. It also suggests that some patients with CCHS should undergo neuropsychological evaluations to assess for cognitive weaknesses secondary to their CCHS.