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Congenital nephrogenic diabetes insipidus due to the mutation in AVPR2(c.541C>T)in a neonate:A case report
Congenital nephrogenic diabetes insipidus due to the mutation in AVPR2(c.541C>T)in a neonate:A case report
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摘要：
BACKGROUND Congenital nephrogenic diabetes insipidus (CNDI) is a rare hereditary renaldisorder that is caused by mutations in AVPR2 or aquaporin 2 (AQP2). Up tonow, there are few reports about CNDI in neonates. Early clinical manifestationsof CNDI in neonates are atypical. A lack of understanding of the disease byclinicians causes frequent misdiagnoses or missed diagnoses, which may result infailure to administer treatments in time and ultimately leads to severecomplications. In this study, clinical data of a case of AVPR2 gene mutationinducedCNDI, which was confirmed by genetic testing, were retrospectivelyanalyzed to improve our understanding of this disease.CASE SUMMARY On February 1, 2020, a male neonate was hospitalized 17 d after birth due to a 7 dperiod of pyrexia. The patient’s symptoms included recurrent pyrexia,hypernatremia and hyperchloremia, which were difficult to treat. The patient wasfed on demand, and water was additionally provided between milk intakes. Acombination treatment of hydrochlorothiazide and amiloride was administered.After the treatment, body temperature and electrolyte levels returned to normal,the volume of urine was significantly reduced and the patient was subsequentlydischarged. Genetic tests confirmed that the patient carried the AVPR2 genemissense mutation c.541C>T (P.R181C), and the patient’s mother carried aheterozygous mutation at the same locus. After clinical treatment with acombination of hydrochlorothiazide and amiloride, the body temperature andelectrolyte levels returned to normal. Up until the most recent follow-up examination, normal body temperature, electrolyte levels and growth anddevelopment were observed.CONCLUSION CNDI in the neonatal period is rare, and its clinical manifestations are unspecificwith some patients merely showing recurrent fever and electrolyte disturbance.Genetic testing of AVPR2 and AQP2 can be used for screening and geneticdiagnosis of CNDI.
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| 篇名 | Congenital nephrogenic diabetes insipidus due to the mutation in AVPR2(c.541C>T)in a neonate:A case report | ||
| 来源期刊 | 世界临床病例杂志 | 学科 | 医学 |
| 关键词 | NEONATE Congenital nephrogenic diabetes insipidus AVPR2 gene Gene mutation Magnetic resonance imaging Case report | ||
| 年，卷（期） | 2020,（24） | 所属期刊栏目 | |
| 研究方向 | 页码范围 | 6418-6424 | |
| 页数 | 7页 | 分类号 | R73 |
| 字数 | 语种 | ||
| DOI | |||
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NEONATE
Congenital
nephrogenic
diabetes
insipidus
AVPR2
gene
Gene
mutation
Magnetic
resonance
imaging
Case
report
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世界临床病例杂志
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百世登出版集团有限公司
出版周期：
半月刊
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2307-8960
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出版地：
北京市朝阳区东四环中路62号楼远洋国际中
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