Titlebook: Hydro Saline Metabolism; Epidemiology, Geneti Massimiliano Caprio,Fabio Luiz Fernandes-Rosa Reference work 2023 Springer Nature Switzerland

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Foreknowledge

Diabetes Insipidus: Novel Diagnostic Approaches, polydipsia. The polyuria-polydipsia syndrome includes four major entities: central DI (CDI), gestational DI (GDI), nephrogenic DI (NDI), and primary polydipsia (PP). It is essential to differentiate accurately CDI from the other forms, because a wrong diagnosis can have fatal consequences. Clinical

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Syndrome of Inappropriate Antidiuresis, several adverse outcomes..Syndrome of inappropriate antidiuresis (SIAD) is the most common cause of euvolemic hyponatremia, and its diagnosis requires compliance with a well-defined clinical and biochemical criteria..The choice of therapy for SIAD is guided by its underlying etiology and the initia

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Approach to Hyponatremia According to the Clinical Setting,the consequence of a relative excess of water compared to total body sodium, which can be reduced, normal or even increased. Because of its frequency and different causes, hyponatremia can be observed in virtually all possible clinical scenarios, encompassing medical as well as surgery specialties.

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Electrolyte Disturbance in Congenital Adrenal Hyperplasia due to 21-OH Deficiency,um homeostasis, particularly in the neonatal period. The pathophysiology of this impaired sodium balance is still poorly investigated as well as its therapeutic management. This chapter will summarize mechanisms of sodium and water reabsorption, particularly the aldosterone-mineralocorticoid recepto

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Rare Forms of Congenital Adrenal Hyperplasia Affecting Electrolyte Homeostasis, deficiency. However, rare forms of CAH, representing around 5% of cases, are attributed to five other enzymatic defects that disrupt steroidogenesis and impact electrolyte homeostasis..Enzymatic defects can occur at various stages of the steroidogenesis pathway, leading to impaired conversion of ch

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Apparent Mineralocorticoid Excess,ow-renin levels allowed the identification of two different clinical entities: aldosterone-mediated mineralocorticoid receptor (MR) activation and cortisol-mediated MR activation. The spectrum of cortisol-mediated MR activation includes the classic apparent mineralocorticoid excess (AME) to milder (

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Mineralocorticoid Resistance,imulating sodium reabsorption in the distal nephron. Pseudohypoaldosteronism type 1 (PHA1) is a rare disease characterized by salt loss in the neonatal period secondary to a target organ resistance to mineralocorticoid action. Patients exhibit salt wasting in the neonatal period with failure to thri

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Primary Aldosteronism,enal hyperplasia. Over the past 15 years, major advances have been made in our understanding of the disease with the identification of somatic and germline mutations responsible for the development of APA and of familial form of hyperaldosteronism. These mutations affect essentially ionic channels a