Li Shuolin, Liu Jing, Yuan Yuan, Lu Aizhen, Liu Fang, Sun Li, Shen Quanli, Wang Libo
Department of Respiration, Children's Hospital of Fudan University, Shanghai, China.
Department of Cardiovascular, Children's Hospital of Fudan University, Shanghai, China.
Front Pediatr. 2022 Aug 26;10:933693. doi: 10.3389/fped.2022.933693. eCollection 2022.
Kabuki syndrome (KS) is a rare genetic disorder characterized by dysmorphic facial features, skeletal abnormalities, and intellectual disability. and were identified as the main causative genes. To our knowledge, there exist no cases of KS, which were reported with pneumorrhagia. In this study, a 10-month-old male was diagnosed to have KS with typical facial features, skeletal anomalies, and serious postnatal growth retardation. Whole exome sequencing of the trio family revealed the presence of a missense variant (c.15143G > A, p. R5048H). The child was presented to the pediatric emergency department several times because of cough, hypoxemia, and anemia. After performing chest CT and fiberoptic bronchoscopy, we found that the child had a pulmonary hemorrhage. During research on the cause of pulmonary hemorrhage, the patient's anti-GBM antibodies gradually became positive, and the urine microalbumin level was elevated at the age of 12-month-old. After glucocorticoids and immunosuppressant therapy, the patient became much better. But he had recurrent pulmonary hemorrhage at the age of 16 months. Therefore, the patient underwent digital subtraction angiography (DSA). However, the DSA showed three abnormal bronchial arteries. This single case expands the phenotypes of patients with KS and Goodpasture's syndrome, which were found to have a missense variant.
歌舞伎综合征（KS）是一种罕见的遗传性疾病，其特征为面部畸形、骨骼异常和智力障碍。 和 被确定为主要致病基因。据我们所知，尚无KS合并肺出血的病例报道。在本研究中，一名10个月大的男性被诊断为患有KS，具有典型的面部特征、骨骼异常和严重的出生后生长发育迟缓。对三联体家庭进行全外显子组测序发现存在一个错义变异（c.15143G > A，p.R5048H）。该患儿因咳嗽、低氧血症和贫血多次就诊于儿科急诊科。在进行胸部CT和纤维支气管镜检查后，我们发现患儿存在肺出血。在研究肺出血原因的过程中，患者的抗肾小球基底膜（GBM）抗体逐渐转为阳性，且在12个月大时尿微量白蛋白水平升高。经过糖皮质激素和免疫抑制剂治疗后，患者病情明显好转。但他在16个月大时再次出现肺出血。因此，该患者接受了数字减影血管造影（DSA）检查。然而，DSA显示有三条异常支气管动脉。这一病例扩展了KS和Goodpasture综合征患者的表型，发现其存在一个错义变异。
