A NOVEL MUTATION IN THE AVPR2 GENE (222delA) ASSOCIATED WITH X-LINKED NEPHROGENIC DIABETES INSIPIDUS IN A BOY WITH GROWTH FAILURE

作者：Abaci Ayhan; Wood Kent; Demir Korcan; Buyukgebiz Atilla; Bober Ece; Kopp Peter^*

来源：Endocrine Practice, 2010, 16(2): 231-236.

DOI：10.4158/EP09165.CR

Objective: To study the case of a 2 10/12-year-old boy who had growth failure and delayed bone maturation.
Methods: We reviewed the history, which revealed that he had had polydipsia, polydipsia, lack of weight gain, and frequent vomiting since the age of 5 months. On physical examination, his height was 86 cm (-1.93 standard deviation ISM), his weight was 10.5 kg (-2.67 SD), and he had motor and mental retardation. His maternal great-grandfather also had polyuria and polydipsia (but not diabetes mellitus), suggesting X-linked nephrogenic diabetes insipidus as the underlying cause. The patient underwent a water deprivation-desmopressin test. The coding region of the AVPR2 gene was amplified by polymerase chain reaction and submitted to direct sequence analysis.
Results: The water deprivation test confirmed the diagnosis of diabetes insipidus, and administration of desmopressin did not diminish his water secretion. Direct sequencing of the AVPR2 gene revealed a novel deletion of adenine at position 222 (222delA) in exon 2. This mutation is predicted to lead to a frameshift beginning at amino acid 75 and a premature stop codon at position 115 (FS75>115X). His height and weight, as well as his motor skills, improved after initiation of therapy with hydrochlorothiazide and amiloride.
Conclusion: Growth delay can be associated with diabetes insipidus. The X-linked nephrogenic diabetes insipidus in this boy is caused by a novel mutation in the AVPR2 gene that is predicted to truncate the receptor protein. (Endocr Pract. 2010;16:231-236)

• 出版日期2010-4
• 单位西北大学