AI Summary & Key Takeaways
AI InsightThis case is presented to keep the diagnosis of NDI in mind in patients with severe hypernatremic dehydration in the neonatal period and to emphasize the prevention of comorbid conditions with early diagnosis and prompt treatment.
📌 3 Key Takeaways
Özet
Nephrogenic diabetes insipidus (NDI) is a rare disorder that develops as a result of resistance to antidiuretic hormone and is characterized by polyuria and polydipsia, high serum osmolality, and low urine osmolality. Eight-day-old male patient applied with the complaints of excessive sucking and drowsiness. In physical examination, collapse of anterior fontanel, decreased mucosal wetness, and impaired turgor tonus were observed. Polyuria, hypernatremia, high blood osmolality, and low urine osmolality were detected. After initiation hydrochlorothiazide treatment, the clinical and laboratory findings improved. In genetic analysis, hemizygous mutation was detected in the AVPR2 gene c.299_319del21bp (p.100_107deIRPTASV) which was previously described in the literature. Early diagnosis and treatment of NDI has vital importance and can prevent mental retardation and growth retardation due to possibility of recurrent dehydration and hypernatremia. This case is presented to keep the diagnosis of NDI in mind in patients with severe hypernatremic dehydration in the neonatal period and to emphasize the prevention of comorbid conditions with early diagnosis and prompt treatment.