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 ...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.展开更多
BACKGROUND Congenital nephrogenic diabetes insipidus(CNDI)is a rare hereditary disorder.It is associated with mutations in the arginine vasopressin receptor 2(AVPR2)gene and aquaporin 2(AQP2)gene,and approximately 270...BACKGROUND Congenital nephrogenic diabetes insipidus(CNDI)is a rare hereditary disorder.It is associated with mutations in the arginine vasopressin receptor 2(AVPR2)gene and aquaporin 2(AQP2)gene,and approximately 270 different mutation sites have been reported for AVPR2.Therefore,new mutations and new manifestations are crucial to complement the clinical deficiencies in the diagnosis of this disease.We report a case of a novel AVPR2 gene mutation locus and a new clinical manifestation.CASE SUMMARY We describe the case of a 48-d-old boy who presented with recurrent fever and diarrhea 5 d after birth.Laboratory tests showed electrolyte disturbances and low urine specific gravity,and imaging tests showed no abnormalities.Genetic testing revealed a novel X-linked recessive missense mutation,c.283(exon 2)C>T(p.P95S).This mutation results in the substitution of a proline residue with a serine residue in the AVPR2 protein sequence.The diagnosis of CNDI was confirmed based on the AVPR2 gene mutation.The treatment strategy for this patient was divided into two stages,including physical cooling supplemented with appropriate amounts of water in the early stage and oral hydrochlorothiazide(1-2 mg/kg)after a clear diagnosis.After follow-up of one and a half years,the patient gradually improved.CONCLUSION AVPR2 gene mutations in new loci and new clinical symptoms help clinicians understand this disease and shorten the diagnosis cycle.展开更多
文摘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.
文摘BACKGROUND Congenital nephrogenic diabetes insipidus(CNDI)is a rare hereditary disorder.It is associated with mutations in the arginine vasopressin receptor 2(AVPR2)gene and aquaporin 2(AQP2)gene,and approximately 270 different mutation sites have been reported for AVPR2.Therefore,new mutations and new manifestations are crucial to complement the clinical deficiencies in the diagnosis of this disease.We report a case of a novel AVPR2 gene mutation locus and a new clinical manifestation.CASE SUMMARY We describe the case of a 48-d-old boy who presented with recurrent fever and diarrhea 5 d after birth.Laboratory tests showed electrolyte disturbances and low urine specific gravity,and imaging tests showed no abnormalities.Genetic testing revealed a novel X-linked recessive missense mutation,c.283(exon 2)C>T(p.P95S).This mutation results in the substitution of a proline residue with a serine residue in the AVPR2 protein sequence.The diagnosis of CNDI was confirmed based on the AVPR2 gene mutation.The treatment strategy for this patient was divided into two stages,including physical cooling supplemented with appropriate amounts of water in the early stage and oral hydrochlorothiazide(1-2 mg/kg)after a clear diagnosis.After follow-up of one and a half years,the patient gradually improved.CONCLUSION AVPR2 gene mutations in new loci and new clinical symptoms help clinicians understand this disease and shorten the diagnosis cycle.
