Hypothalamic adipic hypernatraemia syndrome with normal osmoregulation of vasopressin

López-Capapé, M.; Golmayo, Luz; Lorenzo, Gustavo; Gallego, N.; Barrio, Raquel

doi:10.1007/s00431-004-1495-9

Cited by 7 publications

(4 citation statements)

References 19 publications

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“…AVP-deficient Brattleboro rats start concentrating their urine when water deprived, or when made hypertonic, which all lead to the generation of a hypertonic interstitium (108,109). The tonicity-responsive enhancer-binding protein (TonEBP) may be involved in the hypertonicity response, because its expression is upregulated with hypertonicity (110), inactivating mutations in the tonicityresponsive element in the AQP2 promoter reduced AQP2 expression in mpkCD cells (111), and TonEBP knockout mice or mice transgenic for dominant-negative TonEBP showed decreased AQP2 abundance (112,113).…”

Section: Stimulators Of Aqp2mentioning

confidence: 99%

Collecting Duct Principal Cell Transport Processes and Their Regulation

Pearce

Soundararajan

Trimpert

et al. 2015

Clinical Journal of the American Society of Nephrology

254

236

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The principal cell of the kidney collecting duct is one of the most highly regulated epithelial cell types in vertebrates. The effects of hormonal, autocrine, and paracrine factors to regulate principal cell transport processes are central to the maintenance of fluid and electrolyte balance in the face of wide variations in food and water intake. In marked contrast with the epithelial cells lining the proximal tubule, the collecting duct is electrically tight, and ion and osmotic gradients can be very high. The central role of principal cells in salt and water transport is reflected by their defining transporters-the epithelial Na 1 channel (ENaC), the renal outer medullary K 1 channel, and the aquaporin 2 (AQP2) water channel. The coordinated regulation of ENaC by aldosterone, and AQP2 by arginine vasopressin (AVP) in principal cells is essential for the control of plasma Na 1 and K 1 concentrations, extracellular fluid volume, and BP. In addition to these essential hormones, additional neuronal, physical, and chemical factors influence Na 1 , K 1 , and water homeostasis. Notably, a variety of secreted paracrine and autocrine agents such as bradykinin, ATP, endothelin, nitric oxide, and prostaglandin E 2 counterbalance and limit the natriferic effects of aldosterone and the water-retaining effects of AVP. Considerable recent progress has improved our understanding of the transporters, receptors, second messengers, and signaling events that mediate principal cell responses to changing environments in health and disease. This review primarily addresses the structure and function of the key transporters and the complex interplay of regulatory factors that modulate principal cell ion and water transport.

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Section: Stimulators Of Aqp2mentioning

confidence: 99%

Collecting Duct Principal Cell Transport Processes and Their Regulation

Pearce

Soundararajan

Trimpert

et al. 2015

Clinical Journal of the American Society of Nephrology

254

236

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“…It is due to a defect in osmoreceptors in the anterior hypothalamus involved in the regulation of thirst (3)(4)(5). There may also be an impairment of vasopressin secretion, but there is generally a normal response to exogenous vasopressin and an ability to concentrate urine with fluid restriction (3,4).…”

Section: Discussionmentioning

confidence: 99%

An infant with chronic hypernatremia

Marcovecchio¹

2006

eur j endocrinol

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A 4-month-old boy was presented with failure to thrive, refusal to feed, delayed motor development, truncal hypotonia, and head lag. His plasma osmolality and sodium were significantly high, while his urine osmolality was inappropriately low and did not increase after desmopressin administration. Despite his hyperosmolality, he presented with a lack of thirst and became clearly polyuric and polydipsic only at the age of 2 years. Initial treatment with indomethacin was ineffective, while the combination of hydrochlorothiazide and amiloride was effective and well tolerated.European Journal of Endocrinology 155 S141-S144

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“…Plasma vasopressin peaks ranging from 14 to more than 500 pg/mL occur 9 to 45 minutes after administration of an emetic stimulus such as apomorphine. The reported exceptions are bingeing with vomiting that usually is not associated with nausea ( 114 ), meal-induced gastric distension to the point of extreme satiety but not nausea ( 108 ), and, possibly, ipecac ( 115 ), although the latter was a powerful nonosmotic stimulant of vasopressin in a child with adipsic hypernatremia ( 116 ). In a few healthy adults, vasopressin secretion is not stimulated by nausea, or it starts to rise before nausea is reported ( 108 ).…”

Section: Hemodynamicmentioning

confidence: 99%

Translational Endocrinology & Metabolism: Posterior Pituitary Update

Robertson¹

2012

Translational Endocrinology &Amp; Metabolism

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The statements and opinions expressed in this publication are those of the individual authors and do not necessarily refl ect the views of The Endocrine Society. The Endocrine Society is not responsible or liable in any way for the currency of the information, for any errors, omissions or inaccuracies, or for any consequences arising therefrom. With respect to any drugs mentioned, the reader is advised to refer to the appropriate medical literature and the product information currently provided by the manufacturer to verify appropriate dosage, method and duration of administration, and other relevant information. In all instances, it is the responsibility of the treating physician or other health care professional, relying on independent experience and expertise, as well as knowledge of the patient, to determine the best treatment for the patient.

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Hypothalamic adipic hypernatraemia syndrome with normal osmoregulation of vasopressin

Abstract: Hypothalamic adipsic hypernatraemia syndrome must be suspected when a dehydrated patient denies thirst. The study of antidiuretic function is necessary because the osmoregulation of vasopressin secretion could be altered.

Cited by 7 publications

References 19 publications

Collecting Duct Principal Cell Transport Processes and Their Regulation

Collecting Duct Principal Cell Transport Processes and Their Regulation

An infant with chronic hypernatremia

Translational Endocrinology & Metabolism: Posterior Pituitary Update

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