Novel Mutation of Aquaporin-2 Gene in a Patient with Congenital Nephrogenic Diabetes Insipidus

Seong-Su MOON; Han-Jong KIM; Yeon-Kyung CHOI; Hyun-Ae SEO; Jae-Han JEON; Jung-Eun LEE; Ju-Young LEE; Tae-Hwan KWON; Jung-Guk KIM; Bo-Wan KIM; In-Kyu LEE

doi:10.1507/endocrj.K09E-078

NOTES

Novel Mutation of Aquaporin-2 Gene in a Patient with Congenital Nephrogenic Diabetes Insipidus

Seong-Su MOON, Han-Jong KIM, Yeon-Kyung CHOI, Hyun-Ae SEO, Jae-Han JEON, Jung-Eun LEE, Ju-Young LEE, Tae-Hwan KWON, Jung-Guk KIM, Bo-Wan KIM, In-Kyu LEE

Author information

Seong-Su MOON
Department of Endocrinology and Metabolism, Kyungpook National University Hospital, Daegu, Korea
Han-Jong KIM
Bio-Medical Research Institute, Kyungpook National University Hospital, Daegu, Korea
Yeon-Kyung CHOI
Department of Endocrinology and Metabolism, Kyungpook National University Hospital, Daegu, Korea
Hyun-Ae SEO
Department of Endocrinology and Metabolism, Kyungpook National University Hospital, Daegu, Korea
Jae-Han JEON
Department of Endocrinology and Metabolism, Kyungpook National University Hospital, Daegu, Korea
Jung-Eun LEE
Department of Endocrinology and Metabolism, Kyungpook National University Hospital, Daegu, Korea
Ju-Young LEE
Department of Endocrinology and Metabolism, Kyungpook National University Hospital, Daegu, Korea
Tae-Hwan KWON
Department of Biochemistry and Cell Biology, School of Medicine, Kyungpook National University, Daegu, Korea
Jung-Guk KIM
Department of Endocrinology and Metabolism, Kyungpook National University Hospital, Daegu, Korea
Bo-Wan KIM
Department of Endocrinology and Metabolism, Kyungpook National University Hospital, Daegu, Korea
In-Kyu LEE
Department of Endocrinology and Metabolism, Kyungpook National University Hospital, Daegu, Korea
WCU project“ Development for new drug-target in complication of metabolic syndrome”, Kyungpook National University School of Medicine, Daegu, South Korea
Research Institure for Aging and Metabolism, Kyungpook National University , Daegu, South Korea

Keywords: Congenital nephrogenic diabetes insipidus, Aquaporin-2, Polyuria, Missense mutation, Renal biopsy

JOURNAL FREE ACCESS

2009 Volume 56 Issue 7 Pages 905-910

DOI https://doi.org/10.1507/endocrj.K09E-078

View "Advance Publication" version (May 20, 2009).

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Abstract

Congenital nephrogenic diabetes insipidus (CNDI) is a rare inherited disease, characterized by an inability of the kidney to concentrate urine in response to vasopressin. Three different inheritance patterns have been described, i.e., the X-linked recessive form associated with arginine vasopressin V2 receptor (AVPR2) gene mutations, the autosomal recessive and dominant forms of CNDI associated with mutations in the aquaporin-2 (AQP2) gene encoding the vasopressinregulated water channel of the renal collecting duct. Our case is an 18-year-old male patient who complained of severe polyuria since his infancy. But his developmental and growth status were normal. He was diagnosed as CNDI by water deprivation test and genomic DNA sequencing, which revealed high plasma AVP levels but persistently low urine osmolalities to 6 h-water deprivation and the novel missense mutation S216F in exon4 of the AQP2 gene. Immunohistochemistry of renal biopsied tissue revealed that most of the AQP2 labeling was seen intracellularly in a dotted pattern in the collecting duct principal cells. Immunoblotting of urine samples revealed significantly decreased urinary excretion of AQP2 (~7% of normal control). Here, we report a new case of CNDI associated with the novel missense mutation of the AQP2 gene.

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