| Autor: |
Boram Kim, Yo Han Ahn, Jae Hyeon Park, Han Sol Lim, Seung Won Chae, Jee-Soo Lee, Hee Gyung Kang, Man Jin Kim, Moon-Woo Seong |
| Zdroj: |
Annals of Laboratory Medicine; May2024, Vol. 44 Issue 3, p303-305, 3p |
| Abstrakt: |
This article, titled "The First Case of Congenital Nephrogenic Diabetes Insipidus Caused by AVPR2 Disruption Because of 4q25 Insertional Translocation," discusses a case of congenital nephrogenic diabetes insipidus (NDI) caused by a disruption in the AVPR2 gene due to a 4q25 insertional translocation. NDI is characterized by an impaired renal response to arginine vasopressin (AVP), and mutations in the AVPR2 gene are responsible for approximately 90% of NDI cases. The article presents the case of a two-month-old boy who exhibited symptoms of NDI and underwent genetic testing, which revealed the insertional translocation. This is the first documented case of NDI resulting from insertional translocation. [Extracted from the article] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
|
