Partial nephrogenic diabetes insipidus with a novel arginine vasopressin receptor 2 gene variant

Atsushi Ishida, Haruo Mizuno, Kohei Aoyama, Shiori Sasaki, Yutaka Negishi, Takeshi Arakawa, Takayasu Mori

研究成果: ジャーナルへの寄稿学術論文査読


X-linked nephrogenic diabetes insipidus (NDI) is caused by variations in arginine vasopressin receptor 2 (AVPR2). Some patients show partial resistance to arginine vasopressin (AVP). A 19-month-old Japanese boy presented with polydipsia since infancy. His mother had a history of polydipsia during pregnancy, and his maternal granduncle also had polydipsia. Intermediate urine osmolality and markedly high plasma AVP levels were observed in the water deprivation test. Subsequent pitressin administration caused no further elevation in urine osmolality. We diagnosed the patient with partial NDI, initiated therapy with hydrochlorothiazide, and placed him on a low-sodium diet. Although his urine volume decreased by 20–30% after the initiation of therapy, progressive hydronephrosis and growth retardation developed 2 years later. We investigated his genetic background by multiplex targeted sequencing of genes associated with inherited renal diseases, including AVPR2 and aquaporin-2 (AQP2). We identified a hemizygous missense variant in AVPR2 NM_000054:c.371A>G,p.(Tyr124Cys) in the boy and a heterozygous variant in the mother at the same locus. Distinguishing partial NDI from primary polydipsia is difficult because of its mild symptoms. Markedly elevated plasma AVP levels with intermediate urine osmolality may suggest partial NDI, and genetic analysis can be useful for such patients.

ジャーナルClinical Pediatric Endocrinology
出版ステータス出版済み - 2022

All Science Journal Classification (ASJC) codes

  • 小児科学、周産期医学および子どもの健康
  • 内分泌学、糖尿病および代謝内科学
  • 内分泌学


「Partial nephrogenic diabetes insipidus with a novel arginine vasopressin receptor 2 gene variant」の研究トピックを掘り下げます。これらがまとまってユニークなフィンガープリントを構成します。