형제에서 발생한 신성 요붕증의 AVPR2 유전자변이 증례보고
A Familial Case of Nephrogenic Diabetes Insipidus Associated with a Mutation of the AVPR2 Gene
1
조회
0
다운로드
2
인용
0
참고문헌
키워드
초록
신성 요붕증은 항이뇨 호르몬의 혈중 농도가 높음에도 불구하고, 신장이 항이뇨 호르몬에 반응하지 못하여 생기는 유전질환이다. 신장이 항이뇨 호르몬에 반응하지 못하면 신장의 농도 조절 작용과 수분 재흡수의 기능이 상실되어 많은 양의 저장(hypotonic) 상태의 뇨를 체외로 배출함으로써 탈수증에 이르게 된다. 저자들은 가족성 신성 요붕증으로 진단받은 형제에서 AVPR2 유전자의 hemizygous c.910 delG mutation를 발견하여 문헌 고찰과 함께 보고하는 바이다.
Abstract
Nephrogenic diabetes insipidus is a rare genetic renal disease characterized by insensitivity of the kidney to the anti-diuretic effect of vasopressin in spite of elevated serum anti- diuretic hormone (ADH). Failure of the kidney to respond to ADH results in impaired osmoregulation and water reabsorption of the kidney, therefore, nephrogenic diabetes insipidus presents with a large amount of hypotonic polyuria, polydipsia, and dehydration. We report our experience of two familial cases of nephrogenic diabetes insipidus in brothers both having c.910+1delG in intron 2 of the AVPR2 gene with the brief review of related literatures.
참고문헌 (16)
- Adam P, "Evaluation and management of diabetes insipidus", Am Fam Physician, 55, pp.2146~2153 (1997)
- Bichet DG, "Nephrogenic diabetes insipidus", Am J Med, 105, pp.431~442 (1998)
- Homma S, "Role of cAMP-phosphodiesterase isoenzymes in the pathogenesis of murine nephrogenic diabetes insipidus", Am J Physiol, 261, pp.345~353 (1991)
- Bichet DG, "X-linked nephrogenic diabetes insipidus: from the ship Hopewell to RFLP studies", Am J Hum Genet, 51, pp.1089~1102 (1992)
- Spanakis E, "AVPR2 variants and mutations in nephrogenic diabetes insipidus: review and missense mutation significance", J Cell Physiol, 217, pp.605~617 (2008)
- Knoers N, "Diabetes insipidus: close linkage with markers from the distal long arm of the human X-chromosome", Am J Hum Genet, 80, pp.31~38 (1988)
- Bichet DG, "Nature and recurrence of AVPR2 mutations in X-linked nephrogenic diabetes insipidus", Am J Hum Genet, 55, pp.278~286 (1994)
- Deen PM, "Vasopressin type-2 receptor and aquaporin-2 water channel mutants in nephrogenic diabetes insipidus", Am J Med Sci, 316, pp.300~309 (1998)
- Fujiwara TM, "Molecular biology of hereditary diabetes insipidus", J Am Soc Nephrol, 16, pp.2836~2846 (2005)
- Shimura N, "Urinary arginine vasopressin (AVP) measurement in children: water deprivation test incorporating urinary AVP", Acta Paediatr Jpn, 35, pp.320~324 (1993)
- Wenkert D, "Novel mutations in V2 vassopressin receptor gene of patient with X-linked nephrogenic diabetes insipidus", Hum Mol Genet, 3, pp.1429~1430 (1994)
- Faa V, "Mutations in the vasopressin V2 receptor gene in three families of Italian descent with nephrogenic diabetes insipidus", Hum Mol Genet, 3, pp.1685~1686 (1994)
- Oksche A, "Two novel mutations in the aquaporin-2 and the vasopressin V2 receptor genes in patient with congenital nephrogenic diabetes insipidus", Hum Genet, 98, pp.587~589 (1996)
- Oksch A, "The molecular basis of nephrogenic diabetes insipidus", J Mol Med, 76, pp.326~337 (1998)
- Jakobsson B, "Effect of hydrochlorothiazide and indomethacin treatment on renal function in nephrogenic diabetes insipidus", Acta Paedieatr, 83, pp.522~525 (1994)
- Arthus MF, "Report of 33 novel AVPR2 mutations and analysis of 117 families with X-linked nephrogenic diabetes insipidus", J Am Soc Nephrol, 11, pp.1044~1054 (2000)