Szmigielska Agnieszka, Skrzypczyk Piotr, Czapczak Dorota, Dux Marta, Lipka Adam, Pyrżak Beata, Kucharska Anna Małgorzata
Department of Pediatrics and Nephrology, Medical University of Warsaw, 02-091 Warsaw, Poland.
Department of Laboratory Diagnostics and Clinical Immunology of Developmental Age, Medical University of Warsaw, 02-091 Warsaw, Poland.
Genes (Basel). 2025 Aug 21;16(8):989. doi: 10.3390/genes16080989.
: Diabetes insipidus (DI) in newborns is an extremely rare condition, with the age of presentation strongly suggesting a genetic background of the disease. The differential 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 early diagnosis. : We present the case of a 1-month-old boy with polyuria observed since birth. Laboratory tests showed persistent hypernatremia, elevated plasma and low urine osmolality. An attempt at oral administration of desmopressin had no effect; additionally the copeptin level was increased. A genetic study (NGS of the , and genes) was considered and a new pathogenic variant in the gene (hemizygous c.157del) was detected. After the genetic test result was obtained, treatment with hydrochlorothiazide was started. The patient is now 3 months old, developing normally, and the weight and height are normal. : Newborns with DI should be subjected to extensive multidisciplinary diagnostics, including endocrine and renal causes. Copeptin evaluation and prompt genetic diagnosis allows for the early diagnosis and implementation of appropriate treatment.
新生儿尿崩症（DI）是一种极其罕见的病症，发病年龄强烈提示该病具有遗传背景。鉴别诊断应包括精氨酸加压素缺乏（AVD）和精氨酸加压素抵抗（AVR）。一些新型诊断工具，如 copeptin 评估和基因检测，对早期诊断至关重要。
我们报告一例自出生起就出现多尿的 1 个月大男婴病例。实验室检查显示持续性高钠血症、血浆渗透压升高和尿渗透压降低。口服去氨加压素试验无效；此外，copeptin 水平升高。考虑进行基因研究（对 、 和 基因进行二代测序），并检测到 基因中的一个新的致病变异（半合子 c.157del）。获得基因检测结果后，开始用氢氯噻嗪治疗。该患者现 3 个月大，发育正常，体重和身高均正常。
患有 DI 的新生儿应接受广泛的多学科诊断，包括内分泌和肾脏病因。copeptin 评估和及时的基因诊断有助于早期诊断并实施适当治疗。
