• 제목/요약/키워드: Arginine vasopressin receptor 2

검색결과 9건 처리시간 0.035초

A Pediatric Case of AVPR2-related Nephrogenic Syndrome of Inappropriate Antidiuresis

  • Bae, Hyunwoo;Baek, Hee Sun;Jang, Hae Min;Lee, Eun Joo;Cho, Min Hyun
    • Childhood Kidney Diseases
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    • 제24권2호
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    • pp.126-130
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    • 2020
  • Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a rare X-linked genetic condition caused by a gain-of-function mutation of arginine vasopressin receptor 2 gene, AVPR2. We report the case of a male neonate diagnosed with NSIAD based on his DNA sequence of the AVPR2 gene and the clinical course. He demonstrated a complete correction of hyponatremia using oral urea. We suggest that (1) sequencing analysis of the AVPR2 gene ought to be done in newborns with prolonged euvolemic hyponatremia, hypo-osmolality, high urinary sodium and normal/low or undetectable AVP levels, and that (2) oral urea is a safe and effective treatment option in infants diagnosed with NSIAD until the patients are grown-up.

선천성 부분 신성 요붕증 1례 (A Case of Congenital Partial Nephrogenic Diabetes Insipidus)

  • 모은하;남인혜;정민자;유재홍
    • Clinical and Experimental Pediatrics
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    • 제45권7호
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    • pp.902-905
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    • 2002
  • 선천성 신성 요붕증은 일반적으로 성염색체 열성 유전 양식을 취하여 보인자인 어머니로부터 아들에게 유전되고, 발생 빈도는 드문 것으로 알려져 있으며, 항이뇨호르몬의 혈장 농도가 정상이거나 상승되어 있으면서도 신세뇨관이 항이뇨호르몬에 대한 저항성 때문에 요농축능 장애가 발생하여 다음과 다뇨를 특징으로 하는 질환으로 이뇨제와 프로스타글란딘 합성억제제의 사용이 치료의 근간을 이루어 왔다. 본 증례에서 발견된 AVPR2 수용체 유전자의 돌연변이 부위는 선천성 신성 요붕증의 표현형을 보이는 것으로 외국에서는 보고된 바 있으나 국내에서는 최초로 확인된 것이며, 고용량의 항이뇨 호르몬과 이뇨제 치료에 반응을 보였다.

P2 Receptor-mediated Inhibition of Vasopressin-stimulated Fluid Transport and cAMP Responses in AQP2-transfected MDCK Cells

  • Kim, Yang-Hoo;Choi, Young-Jin;Bae, Hae-Rahn;Woo, Jae-Suk
    • The Korean Journal of Physiology and Pharmacology
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    • 제13권1호
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    • pp.9-14
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    • 2009
  • We cultured canine kidney(MDCK) cells stably expressing aquaporin-2(AQP2) on collagen-coated permeable membrane filters and examined the effect of extracellular ATP on arginine vasopressin(AVP)-stimulated fluid transport and cAMP production. Exposure of cell monolayers to basolateral AVP resulted in stimulation of apical to basolateral net fluid transport driven by osmotic gradient which was formed by addition of 500 mM mannitol to basolateral bathing solution. Pre-exposure of the basolateral surface of cell monolayers to ATP(100 ${\mu}M$) for 30 min significantly inhibited the AVP-stimulated net fluid transport. In these cells, AVP-stimulated cAMP production was suppressed as well. Profile of the effects of different nucleotides suggested that the $P2Y_2$ receptor is involved in the action of ATP. ATP inhibited the effect of isoproterenol as well, but not that of forskolin to stimulate cAMP production. The inhibitory effect of ATP on AVP-stimulated fluid movement was attenuated by a protein kinase C inhibitor, calphostin C or pertussis toxin. These results suggest that prolonged activation of the P2 receptors inhibits AVP-stimulated fluid transport and cAMP responses in AQP2 transfected MDCK cells. Depressed responsiveness of the adenylyl cyclase by PKC-mediated modification of the pertussis-toxin sensitive $G_i$ protein seems to be the underlyihng mechanism.

A 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 Program

  • Kim, Min-Ji;Cho, Jae Young;Park, Ji Sook;Park, Eun Sil;Seo, Ji-Hyun;Lim, Jae-Young;Woo, Hyang-Ok;Youn, Hee-Shang
    • Childhood Kidney Diseases
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    • 제24권2호
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    • pp.131-137
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    • 2020
  • 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.

Effect of Diet and Water Intake on Aquaporin 2 Function

  • Kim, Jun-Mo;Kim, Tae-Hee;Wang, Tong
    • Childhood Kidney Diseases
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    • 제20권1호
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    • pp.11-17
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    • 2016
  • Appropriate control of diet and water intake is important for maintaining normal blood pressure, fluid and electrolyte homeostasis in the body. It is relatively understood that the amount of sodium and potassium intake directly affects blood pressure and regulates ion transporters; Na and K channel functions in the kidney. However, little is known about whether diet and water intake regulates Aquaporin (AQP) function. AQPs, a family of aquaporin proteins with different types being expressed in different tissues, are important for water absorption by the cell. Water reabsorption is a passive process driven by osmotic gradient and water permeability is critical for this process. In most of the nephron, however, water reabsorption is unregulated and coupled to solute reabsorption, such as AQP1 mediated water absorption in the proximal tubule. AQP2 is the only water channel founded so far that can be regulated by hormones in the kidney. AQP2 expressed in the apical membrane of the principal cells in the collecting tubule can be regulated by vasopressin (antidiuretic hormone) controlling the final volume of urine excretion. When vasopressin binds to its receptor on the collecting duct cells, it stimulates the translocation of AQP2 to the membrane, leading to increased water absorption via this AQP2 water channel. However, some studies also indicated that the AQP2 is also been regulated by vasopressin independent mechanism. This review is focused on the regulation of AQP2 by diet and the amount of water intake on salt and water homeostasis.

유전자 검사를 통해 진단한 선천성 신성 요붕증 1례 (A Case of Congenital Nephrogenic Diabetes Insipidus Diagnosed by DNA Analysis)

  • 김지현;이선주;김애숙;조성민;이동석;김두권;최성민;기창석;김종원
    • Childhood Kidney Diseases
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    • 제9권2호
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    • pp.269-274
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    • 2005
  • 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.

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Effects of Ethanol on Neurohumoral Mechanisms for Blood Pressure Regulation in Hemorrhaged Conscious Rats

  • Park, Yoon-Yub;Park, Jae-Sik;Lee, Won-Jung
    • The Korean Journal of Physiology
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    • 제29권1호
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    • pp.91-102
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    • 1995
  • The role of neurohumoral mechanisms in the regulation of cardiovascular functions and the effects of ethanol (EOH) on these mechanisms were examined in hemorrhaged conscious Wistar rats. The rats were bled at a constant rate (2 ml/kg/min) through the femoral artery until mean arterial pressure (MAP) was reduced by 30 mmHg. We studied the responses to hemorrhage 1) under normal conditions (Normal), and after pretreatments with 2) neural blockade (NB), pentolinium, 3) arginine vasopressin V1-receptor antagonist (AVPX) + NB, 4) angiotensin II ATI-receptor antagonist (AngIIX) + NB, 5) combined humoral blockade (HB), and 6) neurohumoral blockade. Intravenous administration of 30% EOH (6.3 ml/kg) attenuated the baroreceptor reflex sensitivity, and enhanced the depressor action of AngIIX. During hemorrhage, NB produced a faster fall ill MAP than Normal both in the saline and EOH groups. However, HB accelerated the rate of fall in MAP only in the EOH group. The recovery from hemorrhagic hypotension was not different between NB and Normal rats, but was attenuated in HB rats in the saline group. Under NB, AngIIX, but not AVPX, retarded the recovery rate compared with NB alone. EOH attenuated the recovery of MAP after hemorrhage in Normal rats, but completely abolished the recovery in HB rats. We conclude that 1) the maintenance of MAP during hemorrhage is mediated almost entirely by the autonomic functions, 2) angiotensin II plays an important role in the recovery from hemorrhagic hypotension, but AVP assumes little importance, 3) AVP release largely depends on the changes in blood volume, whereas renin release depends on the changes in blood pressure rather than blood volume, and 4) EOH increases the dependence of cardiovascular regulation on angiotensin II and impairs the recovery from hemorrhagic hypotension through the attenuation of autonomic functions.

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신성요붕증 가계에서 바소프레신 V2 수용체(AVPR2) 유전자 분석 : AVPR2 유전자 R202C 돌연변이의 발견 (Analysis of Vasopressin Receptor Type 2(AVPR2) Gene in a Pedigree with Congenital Nehrogenic Diabetes Insipidus : Identification of a Family with R202C Mutation in AVPR2 Gene)

  • 박준동;김호성;김희주;이윤경;곽영호;하일수;정해일;최용;박혜원
    • Childhood Kidney Diseases
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    • 제3권2호
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    • pp.209-216
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    • 1999
  • 목적 : 신성 요붕증(Nephrogenic diabetes insipidus, NDI)은 바소프레신(arginine vasoporessin, AVP)에 대한 신세뇨관의 저항성으로 인하여 요농축의 장애를 특징으로 하는 드문 유전성 질환이다. 반성유전형 신성 요붕증은 바소프레신 V2수용체(AVPR2)의 장애에 기인하며, NDI 환자에서 지금까지 다양한 AVPR2의 돌연변이가 보고되었다. 저자들은 임상적으로 반성 유전형 신성 요붕증으로 진단된 가계에서 AVPR2 유전자의 돌연변이를 발견하기 위하여 분자유전학적 검사를 실시하였다. 방법 : 대상환자의 백혈구에서 추출한 DNA로 AVPR2유전자를 polymerase chain reaction-single strand conformational polymorphism(PCR-SSCP)분석하여 이상이 발견된 부분은 클론닝하여 염기서열을 분석하였다. 같은 PCR 산물을 Hae III로 처리하여 PCR-RFLP(restriction fragement length polymorphism) 분석을 하였다. 결과 : AVPR2 유전자를 PCR-SSCP 분석하였을 때 PCR 산물의 정상인과 이동거리의 차이가 발견되어 환아에서 돌연변이가 있고 환아의 어머니는 보인자임을 예측하였고, 염기서열을 분석하여 675번째 염기 A가 G로 치환됨으로 tryptophan이 cysteine으로 바뀌는 R202C 점돌연변이를 발견하였다. 같은 PCR 산물을 PCR-RFLP 분석을 하였을 때 돌연변이로 인한 Hae III의 인지부위의 상실을 확인하였고 환아의 어머니가 이종접합보유자 (heterozygote)임을 확인하였다. 결론 : 저자들은 임상적으로 신성 요붕증으로 확인된 환아와 어머니의 V2 수용체 유전자를 분석하여 R202C 돌연변이를 확인하였다. 신성 요붕증은 진단이 지연되면 성장장애, 정신박약과 사망을 초래할 수 있는 심각한 질환이나, 태생기 또는 신생아기에 진단하면 후유증을 예방할 수 있으므로 조기진단 및 보인자 발견에 분자유전학적 진단 방법을 적극 활용하여야 하겠다.

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돼지 난소 Atrial Natriuretic Peptide 결합 부위의 자가방사법에 의한 검증 (Autoradiographic Localization of Atdal Natriuretic Peptide Binding Sites in the Pig Ovary)

  • 김성주;김선희
    • 한국동물학회지
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    • 제38권4호
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    • pp.523-530
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    • 1995
  • 돼지의 난소 조직내에 존재하는 심방이뇨 호르몬 수용체 분포를 알아 보기 위하여 자가방사법을 통해 125I로 표지한 rANP(1-28)의 특이적 결합 부위를 관찰하였다. 난소 조직 중 125I-rANP(1-28)의 강한 결합 부위는 난포의 과립막 세포층이었으며, 외난포막층에서도 125I-rANP(1-28)의 결합 부위가 관찰되었다. 그러나 내난포막층을 포함한 난소내의 다른 조직과 특히 황체에서는 125I-rANP(1-28)의 결합 부위가 나타나지 않았다. 난포의 과립막 세포층과 외난포막층에서의 이러한 125I-rANP(1-28)의 결합은 다량의 rANP(1-28)에 의하여 완전히 전위되었지만, 펩티드 호르몬인 angiotensin II 및 arginine vasopressin에 의해서는 과량의 농도에서도 전위되지 않아 125I-rANP(1-28)의 결합이 특이적임을 확인하였다. 또한 이러한 특이적 결하은 심방이뇨 호르몬의 생물학적 수용체 외에, 다른 기능을 담당하는 clearance 수용체의 특이적 ligand인 C-ANF에 의해서도 전이되었다. 이상의 결과는 돼지의 난소에 있어서 난포의 과립막 세포층 및 외난포막에 심방이뇨 호르몬의 생물학적 또는 coearance 수용체가 존재함을 보여주며, 이는 심방이뇨 호르몬의 수용체가 난자의 성숙에 관련된 난포의 발달과정에 관여할 수 있음을 시사한다.

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