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논문KCI 등재

유전자 검사를 통해 진단한 선천성 신성 요붕증 1례

A Case of Congenital Nephrogenic Diabetes Insipidus Diagnosed by DNA Analysis

이선주|최성민|조성민|김종원|이동석|김지현|김애숙|김두권|기창석
대한소아신장학회 (The Korean Society Of Pediatric Nephrology)|2005.10|Childhood Kidney Diseases (Childhood Kidney diseases)|제9권 제2호|pp. 269-274

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참고문헌

주제분류소아과학

초록

저자들은 불규칙한 발열은 주소로 내원한 5개월 된 어린 영아에서 유전자 검사를 통하여 선천성 신성 요붕증을 조기 확진하였으며 thiazide 치료에 반응을 보였기에 문헌고찰과 함께 보고하는 바이다.

Abstract

Nephrogenic diabetes insipidus(NDI) is characterized by an inability to concentrate urine despite normal or elevated plasma concentrations of the antidiuretic hormone; arginine vasopressin(AVP). Polyuria with hyposthenuria, and polydipsia are the cardinal clinical manifestations of the disease. Ninety percent of congenital nephrogenic diabetes insipidus patients are males with the X-linked recessive form of the disease; the mutation is in the AVP receptor 2 gene(AVPR2), which is located in chromosomal region Xq28. We report a case of NDI who suffered from unexplained fever and failure to thrive, which has been recognized since about 3 months after birth. His genomic DNA analysis identified a novel AVPR2 gene mutation as W200C.

참고문헌 (22)

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관련 논문AI추천

형제에서 발생한 신성 요붕증의 AVPR2 유전자변이 증례보고김운곤, 이진석, 하태선대한소아신장학회 · Childhood Kidney Diseases2011 · 제15권 제2호A Case of Nephrogenic Diabetes Insipidus with a Rare X-linked Recessive Mutation in an Infant with Developmental and Growth Retardation Tracked by the Korean National Health Screening Program박지숙, 윤희상, 임재영, Eun Sil Park, Hyang-Ok Woo, Jae Young Cho, Ji-Hyun Seo, Min-Ji Kim대한소아신장학회 · Childhood Kidney Diseases2020 · 제24권 제2호신생아 Bartter 증후군 1례박영서, 유정민, 이주훈, 한혜원대한소아신장학회 · Childhood Kidney Diseases2005 · 제9권 제2호Congenital Nephrogenic Diabetes Insipidus Presented with Bilateral Hydronephrosis: Genetic Analysis of V2R Gene Mutations강신욱, 김주성, 김형종, 류동렬, 송영수, 유태현, 이상철, 최훈영연세대학교의과대학 · Yonsei Medical Journal2006 · 제47권 제1호Nonobstructive Bilateral Hydronephrosis & Hydroureter from Nephrogenic Diabetes Insipidus with a Novel Mutation of AQP2 Gene (p.A123G)남궁미경, Jeon Ihn Soo, Ki Sup Song대한소아신장학회 · Childhood Kidney Diseases2016 · 제20권 제2호경한 임상양상을 보인 판코니-비켈 증후군 1예김소미, 김현우, 유한욱대한내과학회 · 대한내과학회지2013 · 제85권 제2호

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