Childhood Kidney Diseases

Korean Society of Pediatric Nephrology (대한소아신장학회)
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A Familial Case of Nephrogenic Diabetes Insipidus Associated with a Mutation of the AVPR2 Gene

형제에서 발생한 신성 요붕증의 AVPR2 유전자변이 증례보고

  • Kim, Wun-Kon (Department of Pediatrics, College of Medicine, Chungbuk National University) ;
  • Lee, Jin-Seok (Department of Pediatrics, College of Medicine, Chungbuk National University) ;
  • Ha, Tae-Sun (Department of Pediatrics, College of Medicine, Chungbuk National University)
  • 김운곤 (충북대학교 의과대학 소아과학교실) ;
  • 이진석 (충북대학교 의과대학 소아과학교실) ;
  • 하태선 (충북대학교 의과대학 소아과학교실)
  • Received : 2011.03.29
  • Accepted : 2011.05.13
  • Published : 2011.10.31
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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 antidiuretic 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.

신성 요붕증은 항이뇨 호르몬의 혈중 농도가 높음에도 불구하고, 신장이 항이뇨 호르몬에 반응하지 못하여 생기는 유전질환이다. 신장이 항이뇨 호르몬에 반응하지 못하면 신장의 농도 조절 작용과 수분재흡수의 기능이 상실되어 많은 양의 저장(hypoto-nic) 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.

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References

  1. Adam P. Evaluation and management of diabetes insipidus. Am Fam Physician 1997;55:2146-53.
  2. Bichet DG. Nephrogenic diabetes insipidus. Am J Med 1998;105:431-42. https://doi.org/10.1016/S0002-9343(98)00301-5
  3. Homma S, Gapstur SM, Coffey A, Valtin H, Dousa TP. Role of cAMP-phosphodiesterase isoenzymes in the pathogenesis of murine nephrogenic diabetes insipidus. Am J Physiol 1991;261:345-53.
  4. Bichet DG, Hendy GN, Lonergan M, Arthus MF, Ligier S, Pausova Z, et al. X-linked nephrogenic diabetes insipidus: from the ship Hopewell to RFLP studies. Am J Hum Genet 1992;51:1089-102.
  5. Spanakis E, Milord E, Gragnoli C. AVPR2 variants and mutations in nephrogenic diabetes insipidus: review and missense mutation significance. J Cell Physiol 2008;217:605-17. https://doi.org/10.1002/jcp.21552
  6. Knoers N, van der Heyden H, van Oost BA, Ropers HH, Monnens L, Willems J. Diabetes insipidus: close linkage with markers from the distal long arm of the human X-chromosome. Am J Hum Genet 1988;80:31-8. https://doi.org/10.1007/BF00451451
  7. Bichet DG, Bimbaumer M, Lonergan M, Arthus MF, Rosenthal W, Goodyer P, et al. Nature and recurrence of AVPR2 mutations in X-linked nephrogenic diabetes insipidus. Am J Hum Genet 1994;55:278-86.
  8. Deen PM, Koers NV. Vasopressin type-2 receptor and aquaporin-2 water channel mutants in nephrogenic diabetes insipidus. Am J Med Sci 1998;316:300-9. https://doi.org/10.1097/00000441-199811000-00003
  9. Fujiwara TM, Bichet DG. Molecular biology of hereditary diabetes insipidus. J Am Soc Nephrol 2005;16:2836-46. https://doi.org/10.1681/ASN.2005040371
  10. Shimura N. Urinary arginine vasopressin (AVP) measurement in children: water deprivation test incorporating urinary AVP. Acta Paediatr Jpn 1993;35:320-4. https://doi.org/10.1111/j.1442-200X.1993.tb03062.x
  11. Wenkert D, Merendino JJ Jr, Shenker A, Thambi N, Robertson GL, Moses AM, et al. Novel mutations in V2 vassopressin receptor gene of patient with X-linked nephrogenic diabetes insipidus. Hum Mol Genet 1994;3:1429-30. https://doi.org/10.1093/hmg/3.8.1429
  12. Faa V, Ventruto ML, Loche S, Bozzola M, Podda R, Cao A, et al. Mutations in the vasopressin V2 receptor gene in three families of Italian descent with nephrogenic diabetes insipidus. Hum Mol Genet 1994;3:1685-6. https://doi.org/10.1093/hmg/3.9.1685
  13. Oksche A, Mö ller A, Dickson J, Rosendahl W, Rascher W, Bichet DG, et al. Two novel mutations in the aquaporin-2 and the vasopressin V2 receptor genes in patient with congenital nephrogenic diabetes insipidus. Hum Genet 1996;98:587-9. https://doi.org/10.1007/s004390050264
  14. Oksch A, Rosenthal W. The molecular basis of nephrogenic diabetes insipidus. J Mol Med 1998;76:326-37. https://doi.org/10.1007/s001090050224
  15. Jakobsson B, Berg U. Effect of hydrochlorothiazide and indomethacin treatment on renal function in nephrogenic diabetes insipidus. Acta Paedieatr 1994;83:522-5. https://doi.org/10.1111/j.1651-2227.1994.tb13072.x
  16. Arthus MF, Lonergan M, Crumley MJ, Naumova AK, Morin D, De Marco LA, et al. Report of 33 novel AVPR2 mutations and analysis of 117 families with X-linked nephrogenic diabetes insipidus. J Am Soc Nephrol 2000:11:1044-54.