Four Japanese Patients with Congenital Nephrogenic Diabetes Insipidus due to the AVPR2 Mutations
Joint Authors
Namatame-Ohta, Noriko
Morikawa, Shuntaro
Nakamura, Akie
Matsuo, Kumihiro
Nakajima, Masahide
Tomizawa, Kazuhiro
Tanahashi, Yusuke
Tajima, Toshihiro
Source
Issue
Vol. 2018, Issue 2018 (31 Dec. 2018), pp.1-6, 6 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2018-07-03
Country of Publication
Egypt
No. of Pages
6
Main Subjects
Abstract EN
Almost 90% of nephrogenic diabetes insipidus (NDI) is caused by mutations in the arginine vasopressin receptor 2 gene (AVPR2) on the X chromosome.
Herein, we reported clinical and biochemical parameters in four cases of three unrelated Japanese families and analyzed the status of the AVPR2.
Two of the four patients had poor weight gain.
However, in the male and female sibling cases, neither had poor weight gain while toddlers, but in the male sibling, episodes of recurrent fever, polyuria, and polydipsia led to the diagnosis of NDI at 4 years of age.
Analysis of AVPR2 identified two nonsense mutations (c.299_300insA; p.K100KfsX91 and c.296G > A; p.W99X) and one missense mutation (c.316C > T; p.R106C).
These mutations were previously reported.
The patient with c.316C > T; p.R106C had milder symptoms consistent with previous reports.
Of the familial cases, the sister was diagnosed as having NDI, but a skewed X-inactivation pattern in her peripheral blood lymphocytes was not identified.
In conclusion, our study expands the spectrum of phenotypes and characterized mutations in AVPR2 in NDI.
American Psychological Association (APA)
Namatame-Ohta, Noriko& Morikawa, Shuntaro& Nakamura, Akie& Matsuo, Kumihiro& Nakajima, Masahide& Tomizawa, Kazuhiro…[et al.]. 2018. Four Japanese Patients with Congenital Nephrogenic Diabetes Insipidus due to the AVPR2 Mutations. Case Reports in Pediatrics،Vol. 2018, no. 2018, pp.1-6.
https://search.emarefa.net/detail/BIM-1149172
Modern Language Association (MLA)
Namatame-Ohta, Noriko…[et al.]. Four Japanese Patients with Congenital Nephrogenic Diabetes Insipidus due to the AVPR2 Mutations. Case Reports in Pediatrics No. 2018 (2018), pp.1-6.
https://search.emarefa.net/detail/BIM-1149172
American Medical Association (AMA)
Namatame-Ohta, Noriko& Morikawa, Shuntaro& Nakamura, Akie& Matsuo, Kumihiro& Nakajima, Masahide& Tomizawa, Kazuhiro…[et al.]. Four Japanese Patients with Congenital Nephrogenic Diabetes Insipidus due to the AVPR2 Mutations. Case Reports in Pediatrics. 2018. Vol. 2018, no. 2018, pp.1-6.
https://search.emarefa.net/detail/BIM-1149172
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1149172