Variable clinical presentations in a family with neurohypophysial diabetes insipidus

摘要

Neurohypophysial diabetes insipidus (NHDI) is characterized by polyuria and polydipsia, due to arginine vaso-pressin (AVP) deficiency. Familial NHDI accounts for 5 of all cases of central diabetes insipidus. Most cases showed an autosomal dominant inheritance sustained by heterozygous AVP-neurophisin II gene mutations. The proband was a 14-yr-old girl, admitted for minor surgery and referred to our Endocrine Unit for symptoms of NHDI. From the age of 3 yr she excreted abnormally large volume of very diluted urine, also during the night, and drank about 8-10 I/day of water. Her growth had been regular, her height was 169 cm height SD score (HSDS) 1.35, body mass index (BMl) was 21 kg/m~2. Menarche occurred at age 11 yr followed by regular menses. She was a good student, she had no signs of neurological or pituitary-dysfunction, nor a history of head trauma. Her elder brother, aged 18 yr, had more severe and serious symptoms with an early-infancy onset, drinking more than 18-20 I/day, thus he modified his life in such a way that he always had access to drinking water.