A Case of Congenital Nephrogenic Diabetes Insipidus Caused by Thr108Met Variant of Aquaporin 2
Congenital nephrogenic diabetes insipidus (CNDI) is a rare renal disorder caused by mutations in arginine vasopressin receptor 2 (AVPR2) or aquaporin 2 (AQP2). The clinical signs of CNDI include polyuria, compensatory polydipsia, dehydration, electrolyte disorder, and developmental retardation witho...
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| Main Authors: | , , , |
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| Format: | Book |
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Frontiers Media S.A.,
2020-01-01T00:00:00Z.
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| Summary: | Congenital nephrogenic diabetes insipidus (CNDI) is a rare renal disorder caused by mutations in arginine vasopressin receptor 2 (AVPR2) or aquaporin 2 (AQP2). The clinical signs of CNDI include polyuria, compensatory polydipsia, dehydration, electrolyte disorder, and developmental retardation without prompt treatment. In this study we report a rare case of CNDI caused by a single base transition in AQP2 gene. A 4.5 years old male patient suffered from oral dryness, polydipsia, and polyuria for more than 3 years. Laboratory examinations showed hypernatremia, hyperchloremia, and decreased urine osmolality and specific gravity. Ultrasound and MRI found bilateral upper ureteral dilatation and hydronephrosis. Furthermore, sequencing analysis found a C>T transition leading to a T108M missense mutation of AQP2. The patient was given low sodium diet and treated with hydrochlorothiazide followed by amiloride with indomethacin. The patient's clinical course improved remarkably after 1 year of treatment. This study reports the first case of CNDI featuring T108M missense mutation alone. These findings demonstrate a causative role of T108M mutation for CNDI and contribute to the mechanistic understanding of CNDI disease process. |
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| Item Description: | 2296-2360 10.3389/fped.2020.00015 |