Nephrogenic Diabetes Insipidus in a Neonate

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.

Yenidoðanda Nefrojenik Diabetes Ýnsipitus

Nefrojenik diyabetes insipidus (NDI), anti diüretik hormona direnç sonucu geliþen, poliüri, polidipsi, düþük idrar osmolaritesi ve yüksek serum osmolaritesi ile karakterize nadir bir bozukluktur. Aþýrý emme isteði ve uykuya meyil þikayeti ile baþvuran 8 günlük erkek hastanýn fizik muayenesinde ön fontanel çöküklüðü, azalmýþ mukoza ýslaklýðý ve bozulmuþ turgor/tonusu gözlendi. Poliüri, hipernatremi, yüksek kan osmolaritesi, düþük idrar osmolaritesi saptandý. Desmopressine yanýt alýnmamasý nedeni ile NDI düþünüldü. Hidroklorotiazid tedavisi sonrasý hastanýn klinik ve laboratuar bulgularýnda düzelme gözlendi. Genetik analizinde AVPR2 geninde c.299_319del21bp (p.100_107delRPPTASV) hemizigot mutasyon saptandý. NDI’un yeni doðan döneminde erken taný ve tedavisi hayati öneme sahip olup, tedavi ile tekrarlayan dehidratasyon ve hipernatremi ataklarý sonucu oluþabilecek mental retardasyon ve geliþme geriliði engellenebilir. Bu olgu yenidoðan döneminde aðýr hipernatremik dehidratasyon ile baþvuran hastalarda NDI tanýsýnýn akýlda tutulmasý, erken tedavi baþlanmasýnýn önemi ve geç tedavi ile ortaya çýkabilecek ko-morbid durumlarýn engellenebileceðine vurgu yapmak amacýyla sunulmuþtur. (SETB-2021-01-021)