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논문분류	춘계학술대회 초록집
제목	Genotype, Phenotype and Follow-up in Taiwanese Patients with Congenital Nephrogenic Diabetes Insipidus
저자	Min-Hua Tseng, SHih-Hua Lin
출판정보	2019; 2019(1):
키워드	nephrogenic diabetes insipidus \| AVPR2 \| aquaporin 2 \| mutations
초록	Genotype, phenotype, and follow-up outcome in Taiwanese patients with congenital nephrogenic diabetes insipidus (CNDI) due to arginine vasopressin V2 receptor (AVPR2) and the aquaporin 2 (AQP2) genetic mutations are not well evaluated. The aims of this stiudy is to investigate the phenotypic, genetic characteristics, and outcomes in the Taiwanese families with CNDI. Twenty-two patients (M:F=18:4, age 22 ± 17) with CNDI belonging to fourteen unrelated Taiwanese families were enrolled. Genomic DNA from blood leukocytes was analyzed for AVPR2 and AQP2 genes mutations. dDAVP stimulation was administered to separate these two gene mutations. Clinical symptoms and biochemical studies at the first presentation as well as follow-up were examined. Of the 22 patients with CNDI, 15 have AVPR2 mutations and 7 have AQP2 mutations. Ten mutations, including 5 missnese, 2 novel small deletion, 2 large deletion, and 1 nonsense mutation, and three mutations, including Q57P, G100V, and 592InsC were identified in AVPR2 and AQP2 gene, respectively. Q57P and G100V were recurrent mutations of AQP2. All patients developed phenotypic polyuria and polydipsia. One symptomatic female patient with heterozygous V115X mutation in AVPR2 gene had inactivated X chromosome in another allele. Three patients who carried same mutation (F178Q) from one family have different phenotypic severity. All patients with AVPR2 mutation have blunted extrarenal response to dDAVP. Nine patients have non-obstructive hydroureteronephrosis. Seven patients, 4 AVPR2, 3 AQP2, reached chronic kidney disease (CKD, stage III-V) at the follow-up. Patients with large deletion of AVPR2 have more severe phenotype than those without. Large deletions of AVPR2 are not uncommon, and intrafamilial phenotypic variability existed among members with AVPR2 gene mutation. Patients with CNDI may be at increased risk for the development of CKD during long-term follow-up.
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