Novel Avpr2 Variant In A Male Infant With Nephrogenic Diabetes Insipidus Who Showed Delayed Head Control
CLINICAL PEDIATRIC ENDOCRINOLOGY(2019)
摘要
Congenital nephrogenic diabetes insipidus (NDI) is a rare disease caused by genetic mutations in AVPR2 or AQP2 (1). AVPR2 is located at the Xq28 locus, and it encodes arginine vasopressin receptor 2 (AVPR2). Mutations in AVPR2 have been associated with X-linked NDI. AQP2 is located at the 12q13.12 locus, and it encodes the water transporter aquaporin-2. Mutations in AQP2 result in autosomal NDI. Here, we describe a male infant with a novel AVPR2 variant who was referred to our hospital due to delayed head control.
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关键词
developmental delay, polyuria, polydipsia, fever, poor weight gain
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