尼曼-皮克病 A 型:5 个月大患者的临床病例

N. V. Zhurkova, N. Vashakmadze, Andrej N. Surkov, T. Turti, Kristina V. Bogdanova, Y. Kotalevskaya, E. Zakharova, L. S. Namazova-Baranova
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摘要

背景介绍尼曼-皮克病 A 型是溶酶体储积病中一种罕见的遗传性疾病,具有发病早、病程进展快的特点。由于该病罕见、进展迅速,因此描述该病的临床病例对于早期诊断和适当治疗至关重要,同时也有助于开发新的病理治疗方法。该病在患者出生后的第二个月发病,表现为体重增长缓慢、肺炎频发、肝脾肿大、弥漫性肌张力低下、运动发育迟缓以及进行性神经系统症状。实验室检测发现血液中的鞘磷脂酶活性明显下降。通过直接自动测序发现,SMPD1 基因第 2 外显子中存在 c.996del 的杂合性缺失;该缺失导致 p.F333Sfs*52 的框架转换(遗传自母亲)。此外,在 SMPD1 基因的第 3 号外显子中发现了之前描述过的致病核苷酸变异 c.1252C>T(杂合子),它导致翻译停滞 p.Arg418*(遗传自父亲)。眼底检查确诊为樱桃红色斑点。根据临床症状和分子基因检测结果,确诊为А型尼曼-皮克病。儿童在出生后的头几个月内出现体格和运动发育迟缓、弥漫性肌张力低下、肝脾肿大、眼科检查发现樱桃红色斑点、肺部受累、反复肺炎和进行性神经系统症状,这表明该患者患有А型尼曼-皮克病。早期的分子遗传学检测对于及时选择治疗方法和为患者家庭提供进一步的遗传学咨询至关重要。
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Niemann-Pick Disease, Type A: Clinical Case of 5 Months Old Patient
Background. Niemann-Pick disease, type A is a rare hereditary disease from the group of lysosomal storage diseases, it is characterized by early onset and progressive course. Description of this disease’s clinical cases is crucial for early diagnosis and adequate management due to its rarity, rapid progression, and the development of new pathogenetic therapy methods.Clinical case description. The disease manifested on the second month of the patient’s life with poor weight gain, frequent pneumonia, hepatosplenomegaly, diffuse muscular hypotonia, delayed motor development, and progressive neurological symptoms. Laboratory testing has revealed significant decrease in sphingomyelinase activity in blood. The heterozygous deletion c.996del in exon 2 of the SMPD1 gene has been revealed via direct automatic sequencing; it leads to frameshifting p.F333Sfs*52 (inherited from mother). Moreover, the previously described pathogenic nucleotide variant c.1252C>T (heterozygous) has been revealed in exon 3 of the SMPD1 gene; it leads to translation arrest p.Arg418* (inherited from father). Cherry-red spots were diagnosed at fundospcopy. The diagnosis of Niemann-Pick disease, type А was established according to clinical signs and molecular genetic testing results.Conclusion. The detection of physical and motor development delay, diffuse muscular hypotonia, hepatosplenomegaly, cherry-red spots at ophthalmological examination, lung involvement, recurrent pneumonia, and progressive neurological symptoms in a child during the first months of life indicates that this patient has Niemann-Pick disease, type А. Early molecular genetic testing is crucial for timely choosing the management approach and further genetic counselling of the family.
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