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British Medical Journal Jun 1972
Topics: Animals; Bipolar Disorder; Diabetes Insipidus; Humans; Lithium; Rats; Water-Electrolyte Balance
PubMed: 5036877
DOI: No ID Found -
British Medical Journal Jul 1972
Topics: Animals; Anura; Cesium; Diabetes Insipidus; Lithium; Vasopressins
PubMed: 5039795
DOI: 10.1136/bmj.3.5819.176-a -
Asian Journal of Surgery Aug 2022
Topics: Adult; Diabetes Insipidus; Diabetes Mellitus; Female; Humans; Neck Pain
PubMed: 35450760
DOI: 10.1016/j.asjsur.2022.03.029 -
American Journal of Physiology. Renal... Feb 2024The urine concentration impairment responsible for hyposthenuria in sickle cell nephropathy is currently thought to be a consequence of renal medulla lesions, which lead... (Observational Study)
Observational Study
The urine concentration impairment responsible for hyposthenuria in sickle cell nephropathy is currently thought to be a consequence of renal medulla lesions, which lead to nephrogenic diabetes insipidus. The objective of the present study was to investigate the mechanism of hyposthenuria in patients with sickle cell anemia. We performed an observational study of patients with homozygous SS sickle cell anemia and data available on the fasting plasma antidiuretic hormone (ADH) concentration. A total of 55 patients were analyzed. The fasting plasma ADH values ranged from 1.2 to 15.4 pg/mL, and 82% of the patients had elevated ADH values and low fasting urine osmolality (<505 mosmol/kgHO). Plasma ADH was positively associated with plasma tonicity and natremia ( < 0.001). None of the patients experienced polyuria and fasting free water clearance was negative in all cases, thus, ruling out nephrogenic diabetes insipidus. The tertile groups did not differ with regard to fasting urine osmolality, plasma renin level, mGFR, or several hemolysis biomarkers. The negative fasting free water clearance in all cases and the strong association between 24-h osmolal clearance and 24-h diuresis favors the diagnosis of osmotic diuresis due to an impaired medullary gradient, rather than lesions to collecting tubule. The urine concentration impairment in sickle cell anemia is an osmotic diuresis related to an impaired renal medullary gradient leading to an ADH plateau effect. The fasting plasma ADH was high in the context of a basic state of close-to-maximal urine concentration probably driven by short nephrons maintaining a cortex-outer medullary gradient (about 400 milliosmoles). The patients had a low daily osmoles intake without evidence of thirst dysregulation so no one experienced polyuria.
Topics: Humans; Diabetes Insipidus, Nephrogenic; Polyuria; Diuresis; Osmolar Concentration; Antidiuretic Agents; Water; Anemia, Sickle Cell; Diabetes Insipidus; Diabetes Mellitus
PubMed: 38059298
DOI: 10.1152/ajprenal.00313.2023 -
The Journal of the American Osteopathic... Feb 1996Diabetes insipidus together with acute myelogenous leukemia has rarely been seen. Still rarer is the occurrence of monosomy 7 with the two diseases (only six cases... (Review)
Review
Diabetes insipidus together with acute myelogenous leukemia has rarely been seen. Still rarer is the occurrence of monosomy 7 with the two diseases (only six cases reported). A patient who had diabetes insipidus develop before the diagnosis of acute myelogenous leukemia was found at karyotyping to have monosomy 7. Although a specific mechanism whereby monosomy 7 would cause diabetes insipidus has been proposed, some have suggested that monosomy 7 may have its effect by altering cell wall membranes. Others have suggested that acute myelogenous leukemia causes diabetes insipidus by causing infiltrates in the hypothalamus or posterior lobe of the pituitary gland. Magnetic resonance imaging of the patient's brain showed no abnormalities of the hypothalamus or pituitary gland. Lumbar puncture revealed no leukocytes in the cerebrospinal fluid. The authors believe that the cause of diabetes insipidus can be explained in patients with acute myelogenous leukemia by checking for monosomy 7 during karyotyping. Because karyotyping is now more frequently performed in evaluation of patients for chemotherapy or bone marrow transplantation, genetic abnormalities such as monosomy 7 will become increasingly apparent.
Topics: Anti-Bacterial Agents; Antimetabolites, Antineoplastic; Cytarabine; Diabetes Insipidus; Diagnosis, Differential; Drug Therapy, Combination; Humans; Leukemia, Myeloid; Male; Middle Aged; Monosomy
PubMed: 8838908
DOI: 10.7556/jaoa.1996.96.2.116 -
Frontiers in Endocrinology 2021The aquaporin 2 (AQP2) plays a critical role in water reabsorption to maintain water homeostasis. AQP2 mutation leads to nephrogenic diabetes insipidus (NDI),...
The aquaporin 2 (AQP2) plays a critical role in water reabsorption to maintain water homeostasis. AQP2 mutation leads to nephrogenic diabetes insipidus (NDI), characterized by polyuria, polydipsia, and hypernatremia. We previously reported that a novel mutation (G215S) caused NDI in a boy. In this study, we aimed to elucidate the cell biological consequences of this mutation on AQP2 function and clarify the molecular pathogenic mechanism for NDI in this patient. First, we analyzed AQP2 expression in Madin-Darby canine kidney (MDCK) cells by AQP2-G215S or AQP2-WT plasmid transfection and found significantly decreased AQP2-G215S expression in cytoplasmic membrane compared with AQP2-WT, independent of forskolin treatment. Further, we found co-localization of endoplasmic reticulum (ER) marker (Calnexin) with AQP2-G215S rather than AQP2-WT in MDCK cells by immunocytochemistry. The functional analysis showed that MDCK cells transfected with AQP2-G215S displayed reduced water permeability compared with AQP2-WT. Visualization of AQP2 structure implied that AQP2-G215S mutation might interrupt the folding of the sixth transmembrane α-helix and/or the packing of α-helices, resulting in the misfolding of monomer and further impaired formation of tetramer. Taken together, these findings suggested that AQP2-G215S was misfolded and retained in the ER and could not be translocated to the apical membrane to function as a water channel, which revealed the molecular pathogenic mechanism of AQP2-G215S mutation and explained for the phenotype of NDI in this patient.
Topics: Animals; Aquaporin 2; Cell Membrane; Diabetes Insipidus, Nephrogenic; Dogs; Endoplasmic Reticulum; Madin Darby Canine Kidney Cells; Mutation; Phenotype; Protein Conformation; Protein Folding; Protein Transport
PubMed: 34512542
DOI: 10.3389/fendo.2021.665145 -
Swiss Medical Weekly 2017Primary polydipsia (PP) has been defined as excessive intake of fluids. However, the pathogenesis of PP remains unexplored. Different theories include a dysfunction in... (Review)
Review
Primary polydipsia (PP) has been defined as excessive intake of fluids. However, the pathogenesis of PP remains unexplored. Different theories include a dysfunction in the thirst mechanism, involvement of the hippocampus, stress-reducing behaviour and lesion occurrences in specific areas of the brain. Most studies have been performed in the psychiatric setting, indicating that PP coincides with schizophrenia, anxiety disorder and depression. However, an increasing number of case reports emphasise the incidence of PP in non-psychiatric patients. As often recommended by healthcare professions and in life-style programmes, the phenomenon of excessive fluid intake appears to be growing, especially in health-conscious and active people. PP is part of the polyuria-polydipsia syndrome, so the differential diagnosis diabetes insipidus (central or nephrogenic) must be excluded. The gold standard when differentiating between these disorders has been the water deprivation test. However, new options for distinguishing between these entities have been proposed e.g., measurement of copeptin, a reliable surrogate marker of the hormone arginine vasopressin (AVP). The major risk of excessive drinking is the development of hyponatraemia and the ensuing complications. In patients with PP, factors reducing the renal excretory capacity of the kidney such as acute illness, medications or low solute intake may accumulate in hyponatraemia. Treatment options for PP remain scarce. Different medication and behavioural therapy have been investigated, but never on a large scale and rarely in non-psychiatric patients. This review provides an overview of the pathophysiology, characteristics, complications, and outcomes of patients with PP in the medical and psychiatric patient.
Topics: Arginine Vasopressin; Diabetes Insipidus; Diagnosis, Differential; Humans; Hyponatremia; Polydipsia, Psychogenic; Schizophrenia
PubMed: 29120013
DOI: 10.4414/smw.2017.14514 -
BMC Endocrine Disorders Apr 2021Diabetes insipidus (DI) can be a common cause of polydipsia and polyuria. Here, we present a case of congenital nephrogenic diabetes insipidus (CNDI) accompanied with...
BACKGROUND
Diabetes insipidus (DI) can be a common cause of polydipsia and polyuria. Here, we present a case of congenital nephrogenic diabetes insipidus (CNDI) accompanied with central diabetes insipidus (CDI) secondary to pituitary surgery.
CASE PRESENTATION
A 24-year-old Chinese woman came to our hospital with the complaints of polydipsia and polyuria for 6 months. Six months ago, she was detected with pituitary apoplexy, and thereby getting pituitary surgery. However, the water deprivation test demonstrated no significant changes in urine volume and urine gravity in response to fluid depression or AVP administration. In addition, the genetic results confirmed a heterozygous mutation in arginine vasopressin receptor type 2 (AVPR2) genes.
CONCLUSIONS
She was considered with CNDI as well as acquired CDI secondary to pituitary surgery. She was given with hydrochlorothiazide (HCTZ) 25 mg twice a day as well as desmopressin (DDAVP, Minirin) 0.1 mg three times a day. There is no recurrence of polyuria or polydipsia observed for more than 6 months. It can be hard to consider AVPR2 mutation in female carriers, especially in those with subtle clinical presentation. Hence, direct detection of DNA sequencing with AVPR2 is a convenient and accurate method in CNDI diagnosis.
Topics: Adenoma; Adult; China; Diabetes Insipidus, Nephrogenic; Diabetes Insipidus, Neurogenic; Female; Humans; Mutation, Missense; Neurosurgical Procedures; Pituitary Apoplexy; Pituitary Neoplasms; Receptors, Vasopressin; Young Adult
PubMed: 33882907
DOI: 10.1186/s12902-021-00749-y -
Fertility and Sterility 1969
Topics: Adult; Diabetes Insipidus; Diagnosis, Differential; Diuretics; Ethacrynic Acid; Female; Humans; Hysterectomy; Labor, Induced; Lactation; Polyuria; Pregnancy; Pregnancy Complications; Vasopressins
PubMed: 5769386
DOI: 10.1016/s0015-0282(16)37023-6 -
European Journal of Human Genetics :... Mar 2015PRPS1 codes for the enzyme phosphoribosyl pyrophosphate synthetase-1 (PRS-1). The spectrum of PRPS1-related disorders associated with reduced activity includes Arts...
PRPS1 codes for the enzyme phosphoribosyl pyrophosphate synthetase-1 (PRS-1). The spectrum of PRPS1-related disorders associated with reduced activity includes Arts syndrome, Charcot-Marie-Tooth disease-5 (CMTX5) and X-linked non-syndromic sensorineural deafness (DFN2). We describe a novel phenotype associated with decreased PRS-1 function in two affected male siblings. Using whole exome and Sanger sequencing techniques, we identified a novel missense mutation in PRPS1. The clinical phenotype in our patients is characterized by high prenatal maternal α-fetoprotein, intrauterine growth restriction, dysmorphic facial features, severe intellectual disability and spastic quadraparesis. Additional phenotypic features include macular coloboma-like lesions with retinal dystrophy, severe short stature and diabetes insipidus. Exome sequencing of the two affected male siblings identified a shared putative pathogenic mutation c.586C>T p.(Arg196Trp) in the PRPS1 gene that was maternally inherited. Follow-up testing showed normal levels of hypoxanthine in urine samples and uric acid levels in blood serum. The PRS activity was significantly reduced in erythrocytes of the two patients. Nucleotide analysis in erythrocytes revealed abnormally low guanosine triphosphate and guanosine diphosphate. This presentation is the most severe form of PRPS1-deficiency syndrome described to date and expands the spectrum of PRPS1-related disorders.
Topics: Brain; Child; Child, Preschool; Diabetes Insipidus; Electrocardiography; Exome; Facies; Fetal Growth Retardation; High-Throughput Nucleotide Sequencing; Humans; Infant, Newborn; Leukoencephalopathies; Magnetic Resonance Imaging; Male; Mutation; Pedigree; Phenotype; Retinal Dystrophies; Ribose-Phosphate Pyrophosphokinase; Syndrome
PubMed: 24961627
DOI: 10.1038/ejhg.2014.112