The Experts below are selected from a list of 204 Experts worldwide ranked by ideXlab platform

Y. Gilboa - One of the best experts on this subject based on the ideXlab platform.

Arieh Raziel - One of the best experts on this subject based on the ideXlab platform.

Daniel G. Bichet - One of the best experts on this subject based on the ideXlab platform.

  • Polyuria and Diabetes Insipidus
    Seldin and Giebisch's The Kidney, 2013
    Co-Authors: Daniel G. Bichet
    Abstract:

    Diabetes Insipidus is a disorder characterized by the excretion of abnormally large volumes (

  • nephrogenic Diabetes Insipidus
    Annual Review of Physiology, 2001
    Co-Authors: Jeanpierre Morello, Daniel G. Bichet
    Abstract:

    Nephrogenic Diabetes Insipidus, which can be inherited or acquired, is characterized by an inability to concentrate urine despite normal or elevated plasma concentrations of the antidiuretic hormone arginine vasopressin. Polyuria, with hyposthenuria, and polydipsia are the cardinal clinical manifestations of the disease. About 90% of patients with congenital nephrogenic Diabetes Insipidus are males with the X-linked recessive form of the disease (OMIM 304800) who have mutations in the arginine vasopressin receptor 2 gene (AVPR2), which codes for the vasopressin V2 receptor. The gene is located in chromosomal region Xq28. In <10% of the families studied, congenital nephrogenic Diabetes Insipidus has an autosomal-recessive or autosomal-dominant (OMIM 222000 and 125800, respectively) mode of inheritance. Mutations have been identified in the aquaporin-2 gene (AQP2), which is located in chromosome region 12q13 and codes for the vasopressin-sensitive water channel. When studied in vitro, most AVPR2 mutations result in receptors that are trapped intracellularly and are unable to reach the plasma membrane. A few mutant receptors reach the cell surface but are unable to bind arginine vasopressin or to properly trigger an intracellular cyclic AMP signal. Similarly, aquaporin-2 mutant proteins are misrouted and cannot be expressed at the luminal membrane. Chemical or pharmacological chaperones have been found to reverse the intracellular retention of aquaporin-2 and arginine vasopressin receptor 2 mutant proteins. Because many hereditary diseases stem from the intracellular retention of otherwise functional proteins, this mechanism may offer a new therapeutic approach to the treatment of those diseases that result from errors in protein kinesis.

  • MOLECULAR BIOLOGY OF Diabetes Insipidus
    Annual review of medicine, 1995
    Co-Authors: T. Mary Fujiwara, Kenneth Morgan, Daniel G. Bichet
    Abstract:

    The identification, characterization, and mutational analysis of three different genes, namely the prepro-arginine-vasopressin-neurophysin II gene ( preproAVP-NPII), the arginine-vasopressin receptor 2 gene ( AVPR2), and the vasopressin-sensitive water channel gene (aquaporin-2, AQP2), provide the basis for our understanding of three different hereditary forms of Diabetes Insipidus: autosomal dominant neurogenic Diabetes Insipidus, X-linked nephrogenic Diabetes Insipidus, and autosomal recessive nephrogenic Diabetes Insipidus, respectively. These advances provide diagnostic tools for physicians caring for these patients.

Julie Refardt - One of the best experts on this subject based on the ideXlab platform.

  • Diabetes Insipidus: An Update.
    Endocrinology and metabolism clinics of North America, 2020
    Co-Authors: Julie Refardt, Bettina Winzeler, Mirjam Christ-crain
    Abstract:

    The differential diagnosis of Diabetes Insipidus involves the distinction between central or nephrogenic Diabetes Insipidus and primary polydipsia. Differentiation is important because treatment strategies vary; the wrong treatment can be dangerous. Reliable differentiation is difficult especially in patients with primary polydipsia or partial forms of Diabetes Insipidus. New diagnostic algorithms are based on the measurement of copeptin after osmotic stimulation by hypertonic saline infusion or after nonosmotic stimulation by arginine and have a higher diagnostic accuracy than the water deprivation test. Treatment involves correcting preexisting water deficits, but is different for central Diabetes Insipidus, nephrogenic Diabetes Insipidus, and primary polydipsia.

  • Diagnosis and differential diagnosis of Diabetes Insipidus: Update.
    Best practice & research. Clinical endocrinology & metabolism, 2020
    Co-Authors: Julie Refardt
    Abstract:

    The two main differential diagnoses of central Diabetes Insipidus are nephrogenic Diabetes Insipidus and primary polydipsia. Reliable distinction between those entities is essential as treatment differs substantially with the wrong treatment potentially leading to serious complications. Past diagnostic measures using the indirect water deprivation test had several pitfalls, resulting in a low diagnostic accuracy. With the introduction of copeptin, a stable and reliable surrogate marker for arginine vasopressin, diagnosis of Diabetes Insipidus was new evaluated. While unstimulated basal copeptin measurement reliably diagnoses nephrogenic Diabetes Insipidus, a stimulation test is needed to differentiate patients with central Diabetes Insipidus from patients with primary polydipsia. Stimulation can either be achieved through hypertonic saline infusion or arginine infusion. While the former showed high diagnostic accuracy and superiority over the indirect water deprivation test in a recent validation study, the diagnostic accuracy for arginine-stimulated copeptin was slightly lower, but superior in test tolerance. In summary of the recent findings, a new copeptin based diagnostic algorithm is proposed for the reliable diagnosis of Diabetes Insipidus.

  • Diabetes Insipidus in pregnancy: how to advice the patient?
    Minerva endocrinologica, 2018
    Co-Authors: Julie Refardt, Mirjam Christ-crain
    Abstract:

    Diabetes Insipidus, characterized by polyuria and polydipsia, is a rare disease during pregnancy. Nevertheless, its recognition is important to avoid complications due to dehydration and hypernatremia. Its manifestation during pregnancy ranges from exacerbation of pre-existing central or nephrogenic Diabetes Insipidus to transient pregnancy-induced Diabetes Insipidus due to the increased metabolism of the antidiuretic hormone vasopressin (AVP) by the placental vasopressinase. Diagnosis can be challenging, as urinary frequency is common during pregnancy and primary polydipsia also needs to be excluded. Also, the standard water deprivation test is not recommended during pregnancy due to the increased risk of complications. Treatment depends upon the final diagnosis, with desmopressin (DDAVP) being the medication of choice in AVP-deficient Diabetes Insipidus, whereas nephrogenic Diabetes Insipidus requires treatment of the underlying disease and supportive measures.

E. Caspi - One of the best experts on this subject based on the ideXlab platform.