Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2025 Oct 23:gfaf218.
doi: 10.1093/ndt/gfaf218. Online ahead of print.

Phenotype and renal outcomes of patients with congenital arginine vasopressin-resistance

Min-Hua Tseng  1 , Chih-Chien Sung  2 , Chih-Jen Cheng  3 , Jeng-Daw Tsai  4 , Jhao-Jhuang Ding  5 , Shih-Hua Lin  2
Affiliations

Phenotype and renal outcomes of patients with congenital arginine vasopressin-resistance

Min-Hua Tseng et al. Nephrol Dial Transplant. .

Abstract

Background and hypothesis: The clinical phenotype and long-term outcomes of patients with congenital arginine vasopressin-resistance (AVP-R) have not been well evaluated. This study investigated the clinical features, treatment modalities, and renal outcomes of patients with AVP-R.

Methods: Twenty-seven patients (male: female = 21:6, mean age = 22 ± 17 years) with genetically confirmed AVP-R from 18 unrelated Taiwanese families were included. Genomic DNA extracted from blood leukocytes was analyzed for AVPR2 and AQP2 mutations. Clinical presentations, laboratory findings, management, and follow-up data, including analyses of renal function changes, were evaluated.

Results: Seventeen patients from 12 X-linked recessive families harbored 11 different AVPR2 mutations, including three novel small deletions and two large deletion mutations. Eight patients from five autosomal recessive (AR) families harbored three different AQP2 mutations (Q57P, G100V, V168Rfs*32), and two patients from one autosomal dominant (AD) family harbored a novel AQP2 R253Dfs*82 mutation. The median ages at onset of polyuria and polydipsia and at clinical diagnosis of AVP-R were 0.7 (2 months-2.5 years) and 11.7 years (0.7-21.5 years), respectively. Three quarters of patients were treated with oral hydrochlorothiazide alone or combined with amiloride, and one third received indomethacin. Intrafamilial phenotypic heterogeneity was observed in one family harboring the AVPR2 F178 L mutation. Seven patients exhibited persistent non-obstructive hydroureteronephrosis. At a median follow-up of 16.6 years (2.2-25.7 years), seven patients (26%) had progressed to chronic kidney disease (CKD, stage III-V), of whom three (AVPR2 mutation = 2, AD AQP2 R253Dfs*82 = 1) were dependent on dialysis. An earlier age of onset, higher serum osmolality, larger daily urine volume, and hydroureteronephrosis at first presentation were independent risk factors for CKD progression.

Conclusions: Non-obstructive hydroureteronephrosis is a common complication of congenital AVP-R. CKD frequently develops in patients with phenotypically severe congenital AVP-R, independent of AVPR2 or AQP2 mutation.

Keywords: AVP-R; AVPR2; aquaporin 2; mutations.

PubMed Disclaimer