Nephrogenic Diabetes Insipidus

Balla, András; Hunyady, László

doi:10.1007/978-3-030-25905-1_15

András Balla^3,4 &
László Hunyady^3,4

Part of the book series: Experientia Supplementum ((EXS,volume 111))

2641 Accesses
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Abstract

Body fluid homeostasis is essential for normal life. In the maintenance of water balance, the most important factor and regulated process is the excretory function of the kidneys. The kidneys are capable to compensate not only the daily fluctuations of water intake but also the consequences of fluid loss (respiration, perspiration, sweating, hemorrhage). The final volume and osmolality of the excreted urine is set in the collecting duct via hormonal regulation. The hormone of water conservation is the vasopressin (AVP), and a large volume of urine is produced and excreted in the absence of AVP secretion or if AVP is ineffective in the kidneys. The aquaporin-2 water channel (AQP2) is expressed in the principal cells, and it plays an essential role in the reabsorption of water in the collecting ducts via type 2 vasopressin receptor (V2R)-mediated mechanism. If neural or hormonal regulation fails to operate the normal function of AVP-V2R-AQP2 system, it can result in various diseases such as diabetes insipidus (DI) or nephrogenic syndrome of inappropriate diuresis (NSIAD). The DI is characterized by excessive production of hyposmotic urine (“insipidus” means tasteless) due to the inability of the kidneys to concentrate urine. In this chapter, we focus and discuss the pathophysiology of nephrogenic DI (NDI) and the potential therapeutic interventions in the light of the current experimental data.

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Abbreviations

ADH:: Antidiuretic hormone
ANP:: Atrial natriuretic peptide
AQP:: Aquaporin water channel
AVP:: Vasopressin
cAMP:: 3′,5′-Cyclic adenosine monophosphate
cNDI:: Congenital forms of NDI
CREB:: cAMP response element-binding protein
ddAVP:: Desmopressin (1-deamino-8-D-arginine vasopressin)
DI:: Diabetes insipidus
ENaC:: Epithelial sodium channel
GPCR:: G protein-coupled receptor
NaPi-2:: Type 2 sodium-phosphate cotransporter
NBC1:: Sodium-bicarbonate cotransporter
NDI:: Nephrogenic diabetes insipidus
NCC:: Na-Cl cotransporter
NKCC:: Na⁺-K⁺-2Cl⁻ cotransporter
NSIAD:: Nephrogenic syndrome of inappropriate diuresis
PGE2:: Prostaglandin E2
PKA:: Protein kinase A
ROMK:: Renal outer medullary potassium channel
SIADH:: Syndrome of inappropriate antidiuretic hormone
V1R, V2R:: Type 1 and type 2 arginine-vasopressin receptor

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Acknowledgments

This work was supported by the Hungarian National Research, Development and Innovation Fund (NKFI K116954 and NVKP_16-1-2016-0039).

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Faculty of Medicine, Department of Physiology, Semmelweis University, Budapest, Hungary
András Balla & László Hunyady
MTA-SE Laboratory of Molecular Physiology, Hungarian Academy of Sciences, Semmelweis University, Budapest, Hungary
András Balla & László Hunyady

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András Balla
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László Hunyady
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Correspondence to László Hunyady .

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2nd Department of Internal Medicine, Faculty of Medicine, Semmelweis University, MTA-SE Molecular Medicine Research Group, Hungarian Academy of Sciences and Semmelweis University, Budapest, Hungary
Peter Igaz
Department of Laboratory Medicine, Faculty of Medicine, Semmelweis University, “Lendület” Hereditary Endocrine Tumors Research Group, Hungarian Academy of Sciences and Semmelweis University, Department of Molecular Genetics, National Institute of Oncology, Budapest, Hungary
Attila Patócs

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Balla, A., Hunyady, L. (2019). Nephrogenic Diabetes Insipidus. In: Igaz, P., Patócs, A. (eds) Genetics of Endocrine Diseases and Syndromes. Experientia Supplementum, vol 111. Springer, Cham. https://doi.org/10.1007/978-3-030-25905-1_15

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DOI: https://doi.org/10.1007/978-3-030-25905-1_15
Published: 07 October 2019
Publisher Name: Springer, Cham
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Online ISBN: 978-3-030-25905-1
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