ESPN 51th Annual Meeting

ESPN 2018


 
NEPHROGENIC DIABETES INSIPIDUS IN A CHILD: AS A LATE DIAGNOSIS
GUNES ISIK 1 MUKADDES KALYONCU 1 ALPER HAN CEBI 2

1- KARADENIZ TECHNICAL UNIVERSITY FACULTY OF MEDICINE PEDIATRIC NEPHROLOGY DEPARTMENT
2- KARADENIZ TECHNICAL UNIVERSITY FACULTY OF MEDICINE,GENETICS DEPARTMENT
 
Introduction:

Diabetes insipidus (DI) is a rare disorder characterized by inability to concentrate urine resulting in polyuria and polydipsia.

 

Material and methods:

A seven month old boy presented with polyuria and polydipsia for four months. On admission he has growth retardation. He habitually drank approximately 11.2 L of water/day and he was also on breastfeeding. He had massive polyuria (11 mL/kg/h). His mother, his aunt, his uncle had also polydipsia and polyuria. They drink 10-12 L of fluid/day and had episodes of nocturnal enuresis during their school age. His aunt has been seen a doctor for polydipsia and polyuria. But all of them had no diagnosis. They were referred to nephrologist. Biochemical analysis was normal. Urine density was 1001. Water deprivation test was performed to make differential diagnosis of DI. At the sixth hour of  the  test  5%  weight loss was seen but serum and urine osmolality remained almost unchanged. After DDAVP loading, urine osmolality and density was not increased. According to this test, NDI was diagnosed and hydrochlorothiazide treatment was started.

 

Results:

Pedigry was considered that it was autosomal dominant NDI. The blood sample was drawn for genetic analysis. His urine output and fluid intake was within normal range after three week hydrochlorothiazide treatment.

Conclusions:

NDI is a life-threatening disorder in children due to severe dehydration and hypernatremia in circumstances with inadequate fluid intake or increased fluid losses. Growth retardation is another problem like our case. His family has history of polyuria and polydipsia but non of them diagnosed as a NDI. Because of favorable effect on morbidity and mortality, early diagnosis and treatment of DI is crucial. DI should be kept in mind in patients who had excess polyuria and polydipsia with family history. If the family members were diagnosed as NDI, our patient would be recognised without developing growth retardation.