Güran Ömer, Güven Serçin, Kırmızıbekmez Heves, Akgün Doğan Özlem, Karadeniz Bilgin Leyla
University of Health Sciences Türkiye, Ümraniye Training and Research Hospital, Clinic of Neonatology, İstanbul, Türkiye
University of Health Sciences Türkiye, Ümraniye Training and Research Hospital, Clinic of Paediatric Nephrology, İstanbul, Türkiye
J Clin Res Pediatr Endocrinol. 2025 Mar 19;17(1):91-96. doi: 10.4274/jcrpe.galenos.2023.2022-11-22. Epub 2023 Feb 23.
Congenital nephrogenic diabetes insipidus (NDI) is a rare cause of hypernatremia in newborns. Central diabetes insipidus (CDI) is the main differential diagnosis in NDI, however NDI responds poorly to desmopressin acetate (DDAVP) treatment, while this is the mainstay of CDI management. Therefore, early and correct diagnosis of NDI is important to avoid the complications of inappropriate therapy. We report a newborn with hypernatremia and hypotonic polyuria. The patient was initially responsive but subsequently unresponsive to intranasal DDAVP treatment in terms of both urine output and serum sodium levels. A novel hemizygous missense mutation (c.632T>C, p.L211P) in the gene was found in both the baby and his mother, and the diagnosis of congenital NDI was established. After hydrochlorothiazide treatment and hypo-osmolar formula were given, urine volume was decreased, and serum sodium levels were normalized. Early recognition and appropriate management of NDI may prevent complications of hypernatremic dehydration in young infants.
先天性肾性尿崩症（NDI）是新生儿高钠血症的罕见病因。中枢性尿崩症（CDI）是NDI的主要鉴别诊断，但NDI对醋酸去氨加压素（DDAVP）治疗反应不佳，而这是CDI治疗的主要手段。因此，早期正确诊断NDI对于避免不适当治疗的并发症很重要。我们报告了一名患有高钠血症和低渗性多尿的新生儿。该患者最初有反应，但随后在尿量和血清钠水平方面对鼻内DDAVP治疗无反应。在婴儿及其母亲中均发现了该基因的一种新的半合子错义突变（c.632T>C，p.L211P），从而确立了先天性NDI的诊断。给予氢氯噻嗪治疗和低渗配方奶后，尿量减少，血清钠水平恢复正常。早期识别和适当管理NDI可预防幼儿高钠性脱水的并发症。
