Identification of a novel X-linked arginine-vasopressin receptor 2 mutation in nephrogenic diabetes insipidus: Case report and pedigree analysis.

ABSTRACT:

Introduction

The clinical and genetic characteristics of nephrogenic diabetes insipidus (NDI) were described via assessing 2 cases of NDI patients from a Chinese family.

Patient concerns

Two patients who manifest polyuria and polydipsia were admitted to hospital for definite diagnosis.

Diagnosis

Water deprivation-vasopressin tests showed that the patients may possess renal-origin diabetes insipidus. All the levels of thyroid-stimulating hormone, luteinizing hormone, follicle stimulation hormone, adrenocorticotropic hormone, prolactin, and growth hormone in both patients were normal. These results were certified that both patients possess a nephropathy-type diabetes insipidus. B-mode ultrasonography and urinalysis test demonstrated that the patient's diabetes insipidus

SUBMITTER: Peng D 

PROVIDER: S-EPMC6783171 | biostudies-literature | 2019 Oct

REPOSITORIES: biostudies-literature