Article

A Novel Pathogenic Variant of the AVPR2 Gene Leading to Arginine Vasopressin Resistance from the Neonatal Period

2025-07-28

Abstract excerpt

Diabetes insipidus (DI) in newborn is an extremely rare condition, simultaneously the age of presentation is a strong suggestion of genetic background of disease. The differ-ential diagnosis should include arginine vasopressin deficiency (AVD) and arginine vasopressin resistance (AVR). Some novel diagnostic tools such as copeptin evaluation and genetic tests are vital for the early diagnosis. Case report: We prese...

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Literature Corpus work: 7dcb7abb-b399-5146-b05d-418c2829fe41
DOI: 10.20944/preprints202507.2240.v1

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