基因检测在非典型TSC2-PKD1连续基因综合征鉴别诊断中的重要性——病例系列
The Importance of Genetic Testing in the Differential Diagnosis of Atypical TSC2-PKD1 Contiguous Gene Syndrome-Case Series.
作者信息
Orosz Petronella, Kollák Zita, Pethő Ákos, Fogarasi András, Reusz György, Hadzsiev Kinga, Szabó Tamás
机构信息
Bethesda Children's Hospital, 1146 Budapest, Hungary.
Department of Pediatrics, Faculty of Medicine, University of Debrecen, 4032 Debrecen, Hungary.
出版信息
Children (Basel). 2023 Feb 22;10(3):420. doi: 10.3390/children10030420.
BACKGROUND
In clinical practice, the possible diagnosis of tuberous sclerosis or polycystic kidney disease is primarily based on clinical criteria, which can later be verified by genetic testing. But in the case of TSC2/PKD1 contiguous gene syndrome (TSC2/PKD1-CGS), the renal appearance of the disease is more serious. Therefore, early genetic analysis is recommended.
METHODS
Herein we present the report of four children with TSC2/PKD1-CGS, one involving the NTHL1 gene. We aim to emphasize the importance of genetic testing in this rare syndrome.
RESULTS
During the follow-up of tuberous sclerosis and polycystic kidney disease patients, it is essential to reappraise the diagnosis if the clinical symptoms' appearance or onset time is unusual. Targeted genetic testing is recommended. However, early tumor formation necessitates the extension of genetic analysis.
CONCLUSIONS
An appropriate evaluation of the phenotype is the cornerstone of diagnosing the rare TSC2/PKD1-CGS with the help of genetic results. In addition, malignant tumors could draw attention to an infrequent large deletion.
背景
在临床实践中，结节性硬化症或多囊肾病的可能诊断主要基于临床标准，随后可通过基因检测进行验证。但在TSC2/PKD1相邻基因综合征（TSC2/PKD1-CGS）的情况下，该病的肾脏表现更为严重。因此，建议进行早期基因分析。
方法
在此，我们报告了4例TSC2/PKD1-CGS患儿，其中1例涉及NTHL1基因。我们旨在强调基因检测在这种罕见综合征中的重要性。
结果
在结节性硬化症和多囊肾病患者的随访过程中，如果临床症状的出现或发病时间异常，重新评估诊断至关重要。建议进行靶向基因检测。然而，早期肿瘤形成需要扩展基因分析。
结论
借助基因检测结果对表型进行适当评估是诊断罕见的TSC2/PKD1-CGS的基石。此外，恶性肿瘤可能提示存在罕见的大片段缺失。
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