| 摘要: |
| 目的:分析1 例1 型Dent 病伴Bartter 综合征样患儿的临床症状及诊疗过程,以提高临床对该疾病的认识。方法:采用回
顾性分析方法,收集我院经临床特征和基因检测确诊的1 例1 型Dent 病伴Bartter 综合征患儿的临床资料,分析其临床特征及
诊疗过程并复习文献。结果:本例患儿以Bartter 综合征样表现(顽固性低钾血症,血浆肾素、醛固酮水平升高,血压正常) 为初
始表现,并有尿蛋白定量明显升高,以低分子量蛋白( LMWP) 尿为主,α1 、β2 微球蛋白( MG) 水平明显升高,基因分析提示
CLCN5 基因c. 1265-c. 1266 insA(半合子突变)。但本例患儿初始肾功能正常,泌尿系统超声检查结果未见异常。初期采用饮
食调控(如低草酸盐、低钠、低钙等),口服补钾及盐酸贝那普利0. 25 mg/ (kg·d)治疗1 个月后,发生急性肾损伤,给予甲泼尼
龙及血液净化治疗后肾功能好转。结论:Dent 病临床表型复杂,需及时完善基因检测协助诊断,具有Bartter 综合征临床症状的
Dent 病患者易发展为肾功能衰竭,应及时评估肾功能及长期规律随访。 |
| 关键词: 1 型Dent 病 Bartter 综合征 CLCN5 基因突变 肾功能衰竭 基因检测 |
| DOI：doi:10.13407/j.cnki.jpp.1672-108X.2024.01.010 |
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| 基金项目: |
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| A Case of Type 1 Dent Disease in Children with Bartter Syndrome and Literature Review |
| Yang Hongyuan, Wu Yaying |
| ((Quanzhou Maternal and Child Health Hospital·Children’s Hospital, Fujian Quanzhou 362000,
China)) |
| Abstract: |
| Objective: To analyze the clinical symptoms and treatment process of a cases of type 1 Dent disease in children with Bartter
syndrome, so as to enhance clinical awareness of the disease. Methods: Retrospective analysis was conducted by collecting clinical data
from a patient diagnosed with type 1 Dent disease complicated with Bartter syndrome through clinical characteristics and genetic testing. The clinical characteristics and treatment process were summarized, and relevant literature was reviewed. Results: The child initially
presented with Bartter syndrome (persistent hypokalemia, elevated plasma renin and aldosterone levels, normal blood pressure).
Significant increases were observed in quantitative urine protein, predominantly low-molecular-weight proteins (LMWP), and elevated
levels of α1 and β2 microglobulin (MG). Genetic analysis revealed a heterozygous mutation in the CLCN5 gene c. 1265-c. 1266 insA.
The child exhibited normal renal function at the initial stage, with no abnormalities detected in the urinary system on ultrasound
examination. Initially, dietary adjustments (such as low oxalate, low sodium and low calcium) and oral potassium supplementation,
along with benazepril at 0. 25 mg/ (kg·d), were implemented. However, after one month of treatment, the child experienced acute
kidney injury, and subsequent administration of methylprednisolone and blood purification led to improvement in renal function.
Conclusion: The clinical phenotype of Dent disease is complex and requires timely improvement of genetic testing for co-diagnosis. Dent
patients with Bartter syndrome are prone to develop renal failure, and renal function should be evaluated in a timely manner and followed
up regularly for a long period of time. |
| Key words: type 1 Dent disease Bartter syndrome CLCN5 gene mutation renal failure gene determination |
