Differenzialdiagnose des Polyhydramnions beim Hyperprostaglandin-E-Syndrom: Case-Report

Marek, Susanne; Tekesin, I.; Hellmeyer, L; Kömhoff, Martin; Seyberth, H. W.; Maier, Rolf F.; Schmidt, S.

doi:10.1055/s-2004-835870

Cited by 12 publications

(2 citation statements)

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“…Of note, polyhydramnios is never seen during the pregnancy that leads to infants bearing AVPR2 or AQP2 mutations. The most common causes of increased amniotic fluid include maternal diabetes mellitus, fetal malformations and chromosomal aberrations, twin-to-twin transfusion syndrome, rhesus incompatibility, and congenital infections (81). Postnatally, polyuria was the leading symptom in 19 of the 32 patients.…”

Section: Complex Polyuro-polydipsic Syndromementioning

confidence: 99%

Molecular Biology of Hereditary Diabetes Insipidus

Fujiwara

Bichet

2005

Journal of the American Society of Nephrology

223

150

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A nyone who passes large volumes of urine might be said to be experiencing diabetes insipidus. Years ago, the initial distinction made by physicians in evaluating patients with polyuria was whether their urine was sweet (diabetes mellitus) or not (diabetes insipidus) (1). Diabetes insipidus is a disorder characterized by the excretion of abnormally large volumes (Ͼ30 ml/kg body wt/d for adults) of dilute urine (Ͻ250 mmol/kg). This definition excludes osmotic diuresis, which occurs when excess solute is being excreted, for example, glucose in the polyuria of diabetes mellitus. Four basic defects can be involved: (1) deficient secretion of the antidiuretic hormone arginine vasopressin (AVP), which is the most common defect and is referred to as neurohypophyseal (also known to as neurogenic, central, or hypothalamic) diabetes insipidus; (2) renal insensitivity to the antidiuretic effect of AVP, which is known as nephrogenic diabetes insipidus (NDI); (3) excessive water intake that can result in polyuria, which is referred to as primary polydipsia; and (4) increased metabolism of vasopressin during pregnancy, which is referred to as gestational diabetes insipidus. The hereditary forms of diabetes insipidus account for Ͻ10% of the cases of diabetes insipidus seen in clinical practice. The purpose of this review is to examine recent developments in the understanding and molecular biology of the hereditary forms of diabetes insipidus. Here we use the gene symbols approved by the HUGO Gene Nomenclature Committee (http://www.gene.ucl.ac.uk/nomenclature) and provide OMIM entry numbers (2). Not included in this review are acquired forms of NDI; for further information, see references 3-5. Genes Involved in "Pure" Diabetes Insipidus AVPThe regulation of the release of AVP from the posterior pituitary is primarily dependent, under normal circumstances, on tonicity information relayed by osmoreceptor cells in the anterior hypothalamus (6). AVP and its corresponding carrier, neurophysin II, are synthesized as a composite precursor by the magnocellular neurons of the supraoptic and paraventricular nuclei of the hypothalamus (for review, see 7). The precursor is packaged into neurosecretory granules and transported axonally in the stalk of the posterior pituitary. En route to the neurohypophysis, the precursor is processed into the active hormone. Prepro-vasopressin has 164 amino acids and is encoded by the 2.5-kb AVP gene located in chromosome region 20p13 (8,9). The AVP gene (coding for AVP and neurophysin II) and the OXT gene (coding for oxytocin and neurophysin I) are located in the same chromosome region, at a very short distance from each other (12 kb in humans) in head-to-head orientation. Data from transgenic mouse studies indicate that the intergenic region between the OXT and the AVP genes contains the critical enhancer sites for cell-specific expression in the magnocellular neurons (7). It is phylogenetically interesting to note that cis and trans components of this specific cellular expression have been conserved bet...

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Section: Complex Polyuro-polydipsic Syndromementioning

confidence: 99%

Molecular Biology of Hereditary Diabetes Insipidus

Fujiwara

Bichet

2005

Journal of the American Society of Nephrology

223

150

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“…While the most common causes of increased amniotic fluid include maternal diabetes mellitus, fetal malformations and chromosomal aberrations, twin-to-twin transfusion syndrome, rhesus incompatibility and congenital infections [18], in these conditions, polyuria usually does not persist after birth. A novel renal cause of polyhydramnios was recently discovered: Laghmani et al reported in 2016 patients with amniotic fluid index from 24 to 100 cms (normal <20 cm) bearing male fetus with a transient form of Bartter's syndrome and bearing MAGED2 mutations [2].…”

Section: "Pure" Vs "Complex" Ndi With Loss Of Water and Electrolytesmentioning

confidence: 99%

Nephrogenic Diabetes Insipidus

2006

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Purpose of the review In nephrogenic diabetes insipidus (NDI), the kidney is unable to concentrate urine despite elevated concentrations of the antidiuretic hormone argininevasopressin. In congenital NDI, polyuria and polydipsia, are present from birth and should be immediately recognized to avoid severe episodes of dehydration. Unfortunately, NDI is still often recognized late after a "diagnostic odyssey" involving false leads and dangerous treatments. Once diagnosed, appropriate treatment can be started. Moreover, laboratory studies have identified promising new compounds, which may help achieve urinary concentration independent of vasopressin. Recent findings a) MAGED2 mutations caused X-linked polyhydramnios with prematurity and a severe but transient form of antenatal Bartter's syndrome. We distinguish two types of hereditary NDI: a "pure" type with loss of water only and a complex type with loss of water and ions. Mutations in the AVPR2 or AQP2 genes, encoding the vasopressin V2 receptor and the water channel Aquaporin2, respectively, lead to a "pure" NDI with loss of water but normal conservation of ions. Mutations in genes that encode membrane proteins involved in sodium chloride reabsorption in the thick ascending limb of Henle's loop lead to Bartter syndrome, a complex polyuric-polydipsic disorder often presenting with polyhydramnios. A new variant of this was recently identified: Laghmani et al. described 7 families with transient antenatal Bartter's syndrome, polyhydramnios and MAGED2 mutations. b) Multiple compounds have been identified experimentally that may stimulate urinary concentration independently of the vasopressin V2 receptor. These compounds may provide new treatments for patients with X-linked NDI.

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The Posterior Pituitary

Bichet

2011

The Pituitary

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Differenzialdiagnose des Polyhydramnions beim Hyperprostaglandin-E-Syndrom: Case-Report

Cited by 12 publications

References 0 publications

Molecular Biology of Hereditary Diabetes Insipidus

Molecular Biology of Hereditary Diabetes Insipidus

Nephrogenic Diabetes Insipidus

The Posterior Pituitary

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