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Clinical Kidney Journal Apr 2016Polydipsia and polyuria are common symptoms in patients with diabetes insipidus (DI), which can be due to inadequate vasopressin production (cranial DI) or vasopressin...
Polydipsia and polyuria are common symptoms in patients with diabetes insipidus (DI), which can be due to inadequate vasopressin production (cranial DI) or vasopressin insensitivity (nephrogenic DI). Clinical diagnosis of the subtypes of DI can be tricky. We present a 44-year-old man with a strong family history of DI who had been diagnosed with autosomal dominant nephrogenic DI from infancy. At the age of 40, he had progressed to end-stage renal failure. When he experienced unresolving severe polyuria after renal transplant, further investigations revealed that he was misdiagnosed and that he had a novel mutation causing autosomal dominant cranial DI.
PubMed: 26985366
DOI: 10.1093/ckj/sfv100 -
Clinical Diabetes and Endocrinology 2017Primary care clinicians will see a higher incidence of type 2 diabetes in adult patients, and the diagnosis and management of an initial presentation of type 1 diabetes...
BACKGROUND
Primary care clinicians will see a higher incidence of type 2 diabetes in adult patients, and the diagnosis and management of an initial presentation of type 1 diabetes can pose challenges to clinicians who see it less frequently. Symptoms of hyperglycemia and risk of ketoacidosis may be missed. Further, endocrine autoimmune disease can run together in patients and families.
CASE PRESENTATION
A 49-year-old Caucasian female with history of pituitary adenoma and Graves' disease with history of thyroid ablation presented in the outpatient setting due to hand tingling of her right middle finger that was worse in the mornings and improved throughout the day. She also complained of excessive thirst, finding herself drinking more water than usual and waking up in the night to urinate. There was no dysuria or haematuria, and no other neurologic symptoms. She did report feeling hungry. She had no family history of diabetes, normal body mass index of 21.7, and reported taking her thyroid replacement medication every day. The differential diagnosis for her thirst included dehydration, psychogenic polydipsia, diabetes mellitus, diabetes insipidus, and anxiety. The patient had normal vital signs and was well appearing; labs were ordered for her on her way home from clinic with no medications. Labs revealed a random blood glucose level of 249 mg/dL, normal renal function, a normal B12 of 996 pg/mL, and an elevated thyroid stimulating hormone level of 25.67 u[iU]/mL. On follow up with her primary care provider 5 days later, additional labs were drawn showing A1C of 11.5%, 1+ ketonuria, a negative Acetest, and a normal basic metabolic panel, except for a fasting glucose of 248 mg/dL, and Free T3 of 2.42 pg/mL, and Free T4 of 1.7 ng/dL. Islet cell antibodies and glutamic acid decarboxylase antibodies were both positive, consistent with type 1 diabetes. She was started on insulin and improved.
CONCLUSION
Given the patient's age, this is a less common presentation of type 1 diabetes mellitus, as a part of polyglandular autoimmune syndrome type IIIa. It serves as a reminder that clinicians should remember that patients with one autoimmune disease (in this case, h/o Graves' disease) are at higher risk for diabetes and other endocrine autoimmune diseases and should be screened appropriately. Clinicians should keep latent type 1 diabetes in the differential in adulthood to ensure proper and timely treatment.
PubMed: 29214049
DOI: 10.1186/s40842-017-0049-9 -
Cureus Jan 2022Neurosarcoidosis is a rare manifestation of sarcoidosis that can exhibit a variety of neuropsychiatric symptoms and can present independently of pulmonary or other...
Neurosarcoidosis is a rare manifestation of sarcoidosis that can exhibit a variety of neuropsychiatric symptoms and can present independently of pulmonary or other systemic symptoms. This is the case of a 51-year-old African American male who presented with recurrent episodes of auditory and visual hallucinations, confusion, seizures that did not respond to antiepileptics, and recent-onset primary polydipsia. In the emergency department, he did not have meningeal signs, focal neurologic deficits, or a fever. Magnetic resonance imaging (MRI) of the brain demonstrated diffuse meningeal enhancement. The patient underwent a lumbar puncture (LP), with cerebrospinal fluid (CSF) analysis notably revealing an elevated angiotensin-converting enzyme (ACE), an elevated CD4:CD8 ratio, and a negative infectious panel, while computed tomography (CT) imaging showed bilateral hilar lymphadenopathy. He also had an endobronchial ultrasound (EBUS) with biopsy which did not reveal granulomas. Although sarcoidosis requires granulomas for a definite diagnosis, studies and symptoms were consistent with neurosarcoidosis, and this can suggest that the disease was isolated to the central nervous system (CNS). This case highlights the need for further understanding of psychiatric symptoms as a sign of isolated neurosarcoidosis.
PubMed: 35237482
DOI: 10.7759/cureus.21687 -
Healthcare (Basel, Switzerland) Apr 2021Dipsogenic diabetes insipidus (DDI) is a subtype of primary polydipsia (PP), which occurs mostly in healthy people without psychiatric disease. In contrast, PP is... (Review)
Review
A Subset of Primary Polydipsia, "Dipsogneic Diabetes Insipidus", in Apparently Healthy People Due to Excessive Water Intake: Not Enough Light to Illuminate the Dark Tunnel.
Dipsogenic diabetes insipidus (DDI) is a subtype of primary polydipsia (PP), which occurs mostly in healthy people without psychiatric disease. In contrast, PP is characterized by a polyuria polydipsia syndrome (PPS) associated with psychiatric illness. However, the pathogenesis of DDI is not well established and remains unexplored. In order to diagnose DDI, the patient should exhibit excessive thirst as the main symptom, in addition to no history of psychiatric illness, polyuria with low urine osmolality, and intact urine concentrating ability. Treatment options for DDI remain scarce. On this front, there have been two published case reports with successful attempts at treating DDI patients. The noteworthy commonalities in these reports are that the patient was diagnosed with frequent excessive intake of water due to a belief that drinking excess water would have pathologic benefits. It could therefore be hypothesized that the increasing trend of excessive fluid intake in people who are health conscious could also contribute to DDI. Hence, this review provides an overview of the pathophysiology, diagnosis, and treatment, with a special emphasis on habitual polydipsia and DDI.
PubMed: 33916272
DOI: 10.3390/healthcare9040406 -
International Journal of Environmental... Feb 2021The effects of microcystin-RR (MC-RR) on water metabolism were studied on Sprague-Dawley (SD) rats and KunMing (KM) mice. In the single dose toxicity test, polydipsia,...
The effects of microcystin-RR (MC-RR) on water metabolism were studied on Sprague-Dawley (SD) rats and KunMing (KM) mice. In the single dose toxicity test, polydipsia, polyuria, hematuria and proteinuria were found in group of rats receiving a MC-RR dose of 574.7 μg/kg, and could be relieved by dexamethasone (DXM). Gradient damage was observed in kidney and liver in rats with gradient MC-RR doses of 574.7, 287.3, and 143.7 μg/kg. No significant water metabolic changes or kidney injuries were observed in mice treated with MC-RR doses of 210.0, 105.0, and 52.5 μg/kg. In the continuous exposure test, in which mice were administrated with 140.0, 70.0, and 35.0 μg/kg MC-RR for 28 days, mice in the 140.0 μg/kg group presented increasing polydipsia, polyuria, and liver damage. However, no anatomic or histological changes, including related serological and urinary indices, were found in the kidney. In summary, abnormal water metabolism can be induced by MC-RR in rats through kidney injury in single dose exposure; the kidney of SD rats is more sensitive to MC-RR than that of KM mouse; and polydipsia and polyuria in mice exposed to MC-RR for 28 days occurred but could not be attributed to kidney damage.
Topics: Animals; Kidney; Liver; Mice; Microcystins; Rats; Rats, Sprague-Dawley; Water
PubMed: 33669356
DOI: 10.3390/ijerph18041900 -
Aging and Disease Oct 2018Loss-of-function mutations of progranulin are associated with frontotemporal dementia in humans, and its deficiency in mice is a model for this disease but with normal...
Loss-of-function mutations of progranulin are associated with frontotemporal dementia in humans, and its deficiency in mice is a model for this disease but with normal life expectancy and mild cognitive decline on aging. The present study shows that aging progranulin deficient mice develop progressive polydipsia and polyuria under standard housing conditions starting at middle age (6-9 months). They showed high water licking behavior and doubling of the normal daily drinking volume, associated with increased daily urine output and a decrease of urine osmolality, all maintained during water restriction. Creatinine clearance, urine urea, urine albumin and glucose were normal. Hence, there were no signs of osmotic diuresis or overt renal disease, other than a concentrating defect. In line, the kidney morphology and histology revealed a 50% increase of the kidney weight, kidney enlargement, mild infiltrations of the medulla with pro-inflammatory cells, widening of tubules but no overt signs of a glomerular or tubular pathology. Plasma vasopressin levels were on average about 3-fold higher than normal levels, suggesting that the water loss resulted from unresponsiveness of the collecting tubules towards vasopressin, and indeed aquaporin-2 immunofluorescence in collecting tubules was diminished, whereas renal and hypothalamic vasopressin were increased, the latter in spite of substantial astrogliosis in the hypothalamus. The data suggest that progranulin deficiency causes nephrogenic diabetes insipidus in mice during aging. Possibly, polydipsia in affected patients - eventually interpreted as psychogenic polydipsia - may point to a similar concentrating defect.
PubMed: 30271659
DOI: 10.14336/AD.2017.1127 -
PloS One 2016Pituitary-dependent hyperadrenocorticism (PDH) is mainly caused by pituitary corticotroph tumors in dogs. A characteristic feature of corticotroph tumors is their...
Pituitary-dependent hyperadrenocorticism (PDH) is mainly caused by pituitary corticotroph tumors in dogs. A characteristic feature of corticotroph tumors is their resistance to negative feedback by glucocorticoids. In some animal species, including dogs, the aberrant expression of 11β-hydroxysteroid dehydrogenase (11HSD), a cortisol metabolic enzyme, is observed in corticotroph tumors. We previously reported that carbenoxolone (CBX), an inhibitor of 11HSD, suppressed ACTH secretion from the pituitary gland, and decreased cortisol concentrations in healthy dogs. Therefore, the aim of this study was to investigate the therapeutic effects of CBX on dogs with PDH. Six dogs with PDH were treated with 60 to 80 mg/kg/day of CBX for 6 weeks, followed by trilostane, which is a commonly used agent for canine PDH. CBX treatment led to a gradual decrease in both basal and in corticotropic releasing hormone (CRH)-stimulated plasma ACTH concentrations and CRH-stimulated serum cortisol concentrations, without side effects. However, basal and stimulated ACTH and cortisol concentrations remained higher than those of healthy dogs, and clinical symptoms such as polydipsia and polyuria were not ameliorated. After a 2-week wash-out interval, trilostane was administered for 2 weeks. Although basal plasma ACTH concentrations were higher after trilostane treatment than CBX treatment, polydipsia and polyuria resolved in all six dogs. The reason for the lack of improvement in polydipsia and polyuria with CBX treatment is unclear. Other mechanisms, in addition to a partial decrease in ACTH secretion, are likely to be involved. In conclusion, this is the first study to report the in vivo effects of CBX in dogs with PDH. The findings suggest that CBX inhibits ACTH secretion from canine pituitary tumors, resulting in lower cortisol concentrations.
Topics: 11-beta-Hydroxysteroid Dehydrogenases; Adrenocortical Hyperfunction; Adrenocorticotropic Hormone; Animals; Carbenoxolone; Dihydrotestosterone; Dog Diseases; Dogs; Female; Glucocorticoids; Hydrocortisone; Male; Pituitary ACTH Hypersecretion; Pituitary Gland
PubMed: 27824928
DOI: 10.1371/journal.pone.0166267 -
JPGN Reports Nov 2022Inflammatory bowel disease (IBD) is a lifelong, immune-mediated disorder that often occurs in childhood and is becoming increasingly common worldwide. Diagnosis of IBD...
Inflammatory bowel disease (IBD) is a lifelong, immune-mediated disorder that often occurs in childhood and is becoming increasingly common worldwide. Diagnosis of IBD in children remains difficult due to the spectrum of symptoms, including gastrointestinal and extraintestinal manifestations. Type 1 diabetes mellitus (T1D) is one of the most common autoimmune diseases in children and adolescents. Classic manifestations of T1D in young people include polyuria, polydipsia, abdominal pain, weight loss, and ketoacidosis. However, children with autoimmunity of pancreatic β-cells may remain euglycemic and asymptomatic for many years. An accurate and prompt diagnosis of IBD and T1D is particularly important in children because they can negatively affect growth, psychosocial function and overall well-being. We present a case in which a previously healthy child was co-diagnosed with Crohn disease and T1D during a routine pediatric evaluation in the outpatient clinic of a peripheral secondary hospital.
PubMed: 37168469
DOI: 10.1097/PG9.0000000000000265 -
Nephrology, Dialysis, Transplantation :... May 2000The cardinal characteristics of primary hypomagnesaemia-hypercalciuria-nephrocalcinosis include renal magnesium wasting, marked hypercalciuria, renal stones,... (Review)
Review
BACKGROUND
The cardinal characteristics of primary hypomagnesaemia-hypercalciuria-nephrocalcinosis include renal magnesium wasting, marked hypercalciuria, renal stones, nephrocalcinosis, a tendency towards chronic renal insufficiency and sometimes even ocular abnormalities or hearing impairment.
METHODS
As very few patients with this syndrome have been described, we provide information on nine patients on follow-up at our institutions and review the 42 cases reported in the literature (33 females and 18 males).
RESULTS
Urinary tract infections, polyuria-polydipsia, renal stones and tetanic convulsions were the main clinical findings at diagnosis. The clinical course was highly variable; renal failure was often reported. The concomitant occurrence of ocular involvement or hearing impairment was reported in a large subset of patients. Parental consanguinity was noted in some families.
CONCLUSIONS
The results indicate an autosomal recessive inheritance. The diagnosis of primary hypomagnesaemia-hypercalciuria-nephrocalcinosis deserves consideration in any patient with nephrocalcinosis and hypercalciuria.
Topics: Adolescent; Adult; Calcium; Child; Eye Diseases; Female; Hearing Disorders; Humans; Kidney Diseases; Magnesium; Male; Nephrocalcinosis; Seizures; Syndrome; Urologic Diseases
PubMed: 10809799
DOI: 10.1093/ndt/15.5.605 -
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