Tags

Type your tag names separated by a space and hit enter

Novel AVPR2 mutation causing partial nephrogenic diabetes insipidus in a Japanese family.
J Pediatr Endocrinol Metab. 2016 May 01; 29(5):591-6.JP

Abstract

BACKGROUND

X-linked recessive congenital nephrogenic diabetes insipidus (NDI) is caused by mutations of the arginine vasopressin type 2 receptor gene (AVPR2). More than 200 mutations of the AVPR2 gene with complete NDI have been reported although only 15 mutations with partial NDI has been reported to date.

METHODS

We herein report a Japanese kindred with partial NDI. The proband is an 8-year-old boy who was referred to our hospital for nocturnal enuresis. Water deprivation test and hypertonic saline test suggested partial renal antidiuretic hormone arginine vasopressin (AVP) resistance.

RESULTS

Analysis of genomic DNA revealed a novel missense mutation (p.L161P) in the patient. The patient's mother was heterozygous for the mutation. Three-dimensional (3-D) modeling study showed that L161P possibly destabilizes the transmembrane domain of the V2 receptor, resulting in its misfolding or mislocalization.

CONCLUSIONS

Distinguishing partial NDI from nocturnal enuresis is important. A clinical clue for diagnosis of partial NDI is an incompatibly high level of AVP despite normal serum osmolality.

Authors

No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

26974133

Citation

Yamashita, Sumie, et al. "Novel AVPR2 Mutation Causing Partial Nephrogenic Diabetes Insipidus in a Japanese Family." Journal of Pediatric Endocrinology & Metabolism : JPEM, vol. 29, no. 5, 2016, pp. 591-6.
Yamashita S, Hata A, Usui T, et al. Novel AVPR2 mutation causing partial nephrogenic diabetes insipidus in a Japanese family. J Pediatr Endocrinol Metab. 2016;29(5):591-6.
Yamashita, S., Hata, A., Usui, T., Oda, H., Hijikata, A., Shirai, T., Kaneko, N., & Hata, D. (2016). Novel AVPR2 mutation causing partial nephrogenic diabetes insipidus in a Japanese family. Journal of Pediatric Endocrinology & Metabolism : JPEM, 29(5), 591-6. https://doi.org/10.1515/jpem-2015-0323
Yamashita S, et al. Novel AVPR2 Mutation Causing Partial Nephrogenic Diabetes Insipidus in a Japanese Family. J Pediatr Endocrinol Metab. 2016 May 1;29(5):591-6. PubMed PMID: 26974133.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Novel AVPR2 mutation causing partial nephrogenic diabetes insipidus in a Japanese family. AU - Yamashita,Sumie, AU - Hata,Astuko, AU - Usui,Takeshi, AU - Oda,Hirotsugu, AU - Hijikata,Atsushi, AU - Shirai,Tsuyoshi, AU - Kaneko,Naoto, AU - Hata,Daisuke, PY - 2015/08/15/received PY - 2015/12/30/accepted PY - 2016/3/15/entrez PY - 2016/3/15/pubmed PY - 2017/5/10/medline SP - 591 EP - 6 JF - Journal of pediatric endocrinology & metabolism : JPEM JO - J Pediatr Endocrinol Metab VL - 29 IS - 5 N2 - BACKGROUND: X-linked recessive congenital nephrogenic diabetes insipidus (NDI) is caused by mutations of the arginine vasopressin type 2 receptor gene (AVPR2). More than 200 mutations of the AVPR2 gene with complete NDI have been reported although only 15 mutations with partial NDI has been reported to date. METHODS: We herein report a Japanese kindred with partial NDI. The proband is an 8-year-old boy who was referred to our hospital for nocturnal enuresis. Water deprivation test and hypertonic saline test suggested partial renal antidiuretic hormone arginine vasopressin (AVP) resistance. RESULTS: Analysis of genomic DNA revealed a novel missense mutation (p.L161P) in the patient. The patient's mother was heterozygous for the mutation. Three-dimensional (3-D) modeling study showed that L161P possibly destabilizes the transmembrane domain of the V2 receptor, resulting in its misfolding or mislocalization. CONCLUSIONS: Distinguishing partial NDI from nocturnal enuresis is important. A clinical clue for diagnosis of partial NDI is an incompatibly high level of AVP despite normal serum osmolality. SN - 2191-0251 UR - https://www.unboundmedicine.com/medline/citation/26974133/Novel_AVPR2_mutation_causing_partial_nephrogenic_diabetes_insipidus_in_a_Japanese_family_ L2 - https://www.degruyter.com/document/doi/10.1515/jpem-2015-0323 DB - PRIME DP - Unbound Medicine ER -