期刊
AMERICAN JOURNAL OF PHYSIOLOGY-RENAL PHYSIOLOGY
卷 304, 期 8, 页码 F1037-F1042出版社
AMER PHYSIOLOGICAL SOC
DOI: 10.1152/ajprenal.00639.2012
关键词
nephrogenic diabetes insipidus; Bartter syndrome; apparent mineralocorticoid excess; nephronophthisis; renal Fanconi syndrome; cystinosis; hypercalciuria; hypokalemia
Bockenhauer D, Bichet DG. Inherited secondary nephrogenic diabetes insipidus: concentrating on humans. Am J Physiol Renal Physiol 304: F1037-F1042, 2013. First published January 30, 2013; doi: 10.1152/ajprenal.00639.2012.-The study of human physiology is paramount to understanding disease and developing rational and targeted treatments. Conversely, the study of human disease can teach us a lot about physiology. Investigations into primary inherited nephrogenic diabetes insipidus (NDI) have contributed enormously to our understanding of the mechanisms of urinary concentration and identified the vasopressin receptor AVPR2, as well as the water channel aquaporin-2 (AQP2), as key players in water reabsorption in the collecting duct. Yet, there are also secondary forms of NDI, for instance as a complication of lithium treatment. The focus of this review is secondary NDI associated with inherited human diseases, such as Bartter syndrome or apparent mineralocorticoid excess. Currently, the underlying pathophysiology of this inherited secondary NDI is unclear, but there appears to be true AQP2 deficiency. To better understand the underlying mechanism(s), collaboration between clinical and experimental physiologists is essential to further investigate these observations in appropriate experimental models.
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