hrp0097p2-2 | Multisystem Endocrine Disorders | ESPE2023

Genetic test is useful in diagnosing nephrogenic diabetes insipidus.

Ujita Nagisa , Igarashi Mizuho , Yoshii Keisuke , Naiki Yasuhiro , Horikawa Reiko

Background: Congenital nephrogenic diabetes insipidus is a rare disease that is sometimes diagnosed after failure to thrive or febrile illness during infancy. Long-term habitual polydipsia to compensate for polyuria is sometimes difficult to distinguish from habitual polydipsia and polyuria or compulsive drinking.Case: The case is a 10-year-old girl. Her father was diagnosed as having congenital nephrogenic diabetes insi...

hrp0097lb3 | Late Breaking | ESPE2023

Congenital Hyperinsulinism due to ABCC8/KCNJ11 mutations and the long-term outcome - a single center experience

Noordin Mazidah , Miyagi Hajime , Igarashi Mizuho , Kashima Takemoto , Fujioka Akiko , Ujita Nagisa , Yoshii Keisuke , Naiki Yasuhiro , Horikawa Reiko

Hyperinsulinism is a common cause of persistent hypoglycemia beyond infancy. Mutations in the ABCC8/KCNJ11 genes are the most common aetiology of congenital hyperinsulinism (CHI), leading to KATP channel mutation. This results in an inappropriate insulin secretion irrespective of hypoglycaemia. This is a cross-sectional study of the patients attending the paediatric endocrinology unit at the National Centre for Child Health & Development (NCCHD), Tokyo, Japan from March 20...