지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2020.1
- 수록면
- 131 - 137 (7page)
이용수
초록· 키워드
오류제보하기
Nephrogenic diabetes insipidus (DI) is a rare disease in which the patient cannot concentrate urine despite appropriate or high secretion of antidiuretic hormone. Congenital nephrogenic DI is caused by the arginine vasopressin receptor 2 (AVPR2) or aquaporin 2 (AQP2) gene mutation; the AVPR2 genetic mutation accounts for 90% of the cases. National health screening for infants and children was launched in 2007 in order to prevent accidents and promote public health in infants and children in Korea. The program has been widely used as a primary clinical service in Korea. We treated an infant with faltering growth and delayed development detected by the National health screening program, and diagnosed the problem as nephrogenic DI caused by a rare missense mutation of c.490T>C on the AVPR2 gene. This case can be a good educational nephrogenic DI with a rare AVPR2 mutation, which was well screened and traced by the national health screening program for infants and children in Korea.
목차
등록된 정보가 없습니다.
참고문헌 (15)
참고문헌 신청
문진수 / 2010 / 영유아 건강검진 / 대한의사협회지 53(5):377~385
Sasaki S / 2013 / Hereditary nephrogenic diabetes insipidus in Japanese patients : analysis of 78 families and report of 22 new mutations in AVPR2 and AQP2 / Clin Exp Nephrol 17:338~344
Bichet DG / 2016 / Genetic Forms of Nephrogenic Diabetes Insipidus(NDI) : Vasopressin Receptor Defect(X-linked)and Aquaporin Defect(Autosomal Recessive and Dominant) / Best Pract Res Clin Endocrinol Metab 30:263~276
Felicia Bassey-Akamune / 2018 / Congenital Nephrogenic Diabetes Insipidus : Delayed Onset of Symptoms in Breastfed infant / Pediatrics 141:695
김운곤 / 2011 / 형제에서 발생한 신성 요붕증의 AVPR2 유전자변이 증례보고 / Childhood Kidney Diseases 15(2):172~178
Sasaki S / 2013 / Hereditary nephrogenic diabetes insipidus in Japanese patients : analysis of 78 families and report of 22 new mutations in AVPR2 and AQP2 / Clin Exp Nephrol 17:338~344
Bichet DG / 2016 / Genetic Forms of Nephrogenic Diabetes Insipidus(NDI) : Vasopressin Receptor Defect(X-linked)and Aquaporin Defect(Autosomal Recessive and Dominant) / Best Pract Res Clin Endocrinol Metab 30:263~276
Felicia Bassey-Akamune / 2018 / Congenital Nephrogenic Diabetes Insipidus : Delayed Onset of Symptoms in Breastfed infant / Pediatrics 141:695
김운곤 / 2011 / 형제에서 발생한 신성 요붕증의 AVPR2 유전자변이 증례보고 / Childhood Kidney Diseases 15(2):172~178
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