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Annals of Laboratory Medicine May 2024
Topics: Humans; Diabetes Insipidus, Nephrogenic; Mutagenesis, Insertional; Mutation; Pedigree; Diabetes Mellitus
PubMed: 38145893
DOI: 10.3343/alm.2023.0361 -
Endocrinology, Diabetes & Metabolism... Oct 2023IgG4-related disease is a multiorgan disorder in which nodules and hypertrophic lesions are observed simultaneously, or separately, in areas including the pancreas,...
SUMMARY
IgG4-related disease is a multiorgan disorder in which nodules and hypertrophic lesions are observed simultaneously, or separately, in areas including the pancreas, liver, lungs, salivary glands, thyroid glands, and pituitary glands. IgG4-related hypophysis is one of several IgG4-related diseases and is characterized by pituitary gland and pituitary stalk thickening, various degrees of hypopituitarism, and increased serum IgG4 levels. Steroid therapy is effective for patients with IgG4-related hypophysis, but the reported effectiveness of steroid therapy for restoring pituitary function differs between studies. Following an episode of autoimmune pancreatitis 10 years prior, enlargement of the pituitary gland and stalk along with panhypopituitarism and polyuria developed in a 73-year-old male. A high serum IgG4 level and biopsy of the submandibular gland showing infiltration of IgG4-positive plasma cells led to a clinical diagnosis of IgG4-related hypophysitis. Prednisolone treatment reduced the swelling of the pituitary gland and stalk and improved anterior pituitary function. Although arginine vasopressin secretion remained insufficient, polyuria was relieved and kept in remission even after prednisolone treatment was completed. This is the first reported case in which prednisolone was able to maintain both normal anterior pituitary function and remission of polyuria caused by IgG4-related hypophysitis. IgG4-related hypophysitis has previously been associated with a relapse of symptoms during treatment. However, the patient reported in this case study remained in remission for over 3 months after completion of steroid treatment and should be monitored closely for changes in pituitary function.
LEARNING POINTS
Steroid therapy is the first-line therapy for pituitary dysfunction and pituitary stalk swelling in IgG4-related hypophysitis. In this case, although posterior pituitary function remained insufficient, polyuria was relieved and kept in remission for over 3 months even after prednisolone treatment was completed. IgG4-related hypophysitis has been associated with the relapse of symptoms during steroid tapering, and changes in pituitary function and symptoms should be monitored closely. When we encounter cases of adrenal insufficiency and polyuria during observation of autoimmune pancreatitis or other IgG4-related disease, we should consider the possibility of IgG4-related hypophysitis in mind.
PubMed: 38131878
DOI: 10.1530/EDM-23-0007 -
Journal of Clinical Immunology Dec 2023Autoimmune polyendocrine syndrome type-1 (APS-1) is caused by mono- or biallelic loss-of-function variants of the autoimmune regulator gene AIRE underlying early-onset...
Autoimmune polyendocrine syndrome type-1 (APS-1) is caused by mono- or biallelic loss-of-function variants of the autoimmune regulator gene AIRE underlying early-onset multiorgan autoimmunity and the production of neutralizing autoantibodies against cytokines, accounting for mucosal candidiasis and viral diseases. Medical intervention is essential to prevent or attenuate autoimmune manifestations. Ruxolitinib is a JAK inhibitor approved for use in several autoimmune conditions. It is also used off-label to treat autoimmune manifestations of a growing range of inborn errors of immunity. We treated three APS-1 patients with ruxolitinib and followed them for at least 30 months. Tolerance was excellent, with no medical or biological adverse events. All three patients had remarkably positive responses to ruxolitinib for alopecia, nail dystrophy, keratitis, mucosal candidiasis, steroid-dependent autoimmune hepatitis, exocrine pancreatic insufficiency, renal potassium wasting, hypoparathyroidism, and diabetes insipidus. JAK inhibitors were therefore considered an effective treatment in three patients with APS-1. Our observations suggest that JAK/STAT pathways are involved in the pathogenesis of APS-1 autoimmune manifestations. They also suggest that JAK inhibitors should be tested in a broader range of APS-1 patients.
Topics: Humans; Polyendocrinopathies, Autoimmune; Autoimmunity; Janus Kinase Inhibitors; Autoantibodies; Candidiasis
PubMed: 38112858
DOI: 10.1007/s10875-023-01629-x -
Frontiers in Neurology 2023Literature on invasive neuromonitoring and bilateral decompressive craniectomies (BDC) in patients with refractory status epilepticus (RSE)-mediated hypoxic-ischemic...
OBJECTIVES
Literature on invasive neuromonitoring and bilateral decompressive craniectomies (BDC) in patients with refractory status epilepticus (RSE)-mediated hypoxic-ischemic brain injury (HIBI) is limited. Neuromonitoring can guide decision making and treatment escalation.
METHODS AND RESULTS
We report a case of a 17 years-old male who was admitted to our hospital's intensive care unit for RSE. HIBI was detected on neuroimaging on this patient's second day of admission after he developed central diabetes insipidus (DI). Invasive neuromonitoring revealed raised intracranial pressure (ICP) and brain hypoxia as measured by reduced brain tissue oxygen tension (PbtO). Treatments were escalated in a tiered fashion, including administration of hyperosmolar agents, analgesics, sedatives, and a neuromuscular blocking drug. Eventually, BDC was performed as a salvage therapy as a means of controlling refractory ICP crisis in the setting of diffuse cerebral edema (DCE) following HIBI.
DISCUSSION
SE-mediated HIBI can result in refractory ICP crisis. Neuromonitoring can help identify secondary brain injury (SBI), guide treatment strategies, including surgical interventions, and may lead to better outcomes.
PubMed: 38099068
DOI: 10.3389/fneur.2023.1284098 -
Reviews in Endocrine & Metabolic... Jun 2024Arginine vasopressin deficiency (AVP-D) is one of the main entities of the polyuria-polydipsia syndrome. Its correct diagnosis and differentiation from the other two... (Review)
Review
Arginine vasopressin deficiency (AVP-D) is one of the main entities of the polyuria-polydipsia syndrome. Its correct diagnosis and differentiation from the other two causes - AVP resistance and primary polydipsia - is crucial as this determines the further management of these patients.Over the last years, several new diagnostic tests using copeptin, the stable surrogate marker of AVP, have been introduced. Among them, hypertonic saline stimulated copeptin was confirmed to reliably and safely improve the diagnostic accuracy to diagnose AVP-D. Due to its simplicity, arginine stimulated copeptin was put forward as alternative test procedure. Glucagon-stimulated copeptin also showed promising results, while the oral growth hormone secretagogue Macimorelin failed to provide a sufficient stimulus. Interestingly, an approach using machine learning techniques also showed promising results concerning diagnostic accuracy.Once AVP-D is diagnosed, further workup is needed to evaluate its etiology. This will partly define the further treatment and management. In general, treatment of AVP-D focuses on desmopressin substitution, with oral formulations currently showing the best tolerance and safety profile. However, in addition to desmopressin substitution, recent data also showed that psychopathological factors play an important role in managing AVP-D patients.
Topics: Humans; Arginine Vasopressin; Polyuria; Polydipsia; Deamino Arginine Vasopressin; Glycopeptides
PubMed: 38087160
DOI: 10.1007/s11154-023-09862-w -
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 -
JCEM Case Reports Nov 2023Craniopharyngiomas are tumors originating from the infundibular stalk, extending to the parasellar and suprasellar region, thereby conferring multiple risks of this...
Craniopharyngiomas are tumors originating from the infundibular stalk, extending to the parasellar and suprasellar region, thereby conferring multiple risks of this region. In particular, hypothalamic and pituitary damage related to its natural history as well as treatment effects of craniopharyngiomas substantially affect life expectancy and quality of life. Here, we describe an adult patient presenting with polyuria, memory, and visual field impairment secondary to concurrent craniopharyngioma and intraventricular glioma. He was treated with surgical resection with postoperative course notable for hypothalamic-pituitary dysfunction, including central hypothyroidism, central adrenal insufficiency, arginine vasopressin deficiency (AVP-D, formerly diabetes insipidus) with loss of sense of thirst, and hypothalamic hypothermia. The adipsia, combined with memory dysfunction, challenged the management of constant fluctuations in his sodium (129-168 mEq/L), with ultimate treatment through vasopressin repletion, fixed fluid intake, strict urine output monitoring, and close counseling of the patient and his caregiver. This case exemplifies the complexity of the endocrine care of patients with craniopharyngiomas and highlights the need for step-wise algorithms in the treatment of hypothalamic deficiencies such as adipsia.
PubMed: 38021079
DOI: 10.1210/jcemcr/luad137 -
Archives of Endocrinology and Metabolism Nov 2023Quality of Life (QoL) has been a multifactorial concerning issue in oncology. We aimed to inspect the pre-operative QoL among patients with craniopharyngioma and to...
OBJECTIVE
Quality of Life (QoL) has been a multifactorial concerning issue in oncology. We aimed to inspect the pre-operative QoL among patients with craniopharyngioma and to explore the potential correlations between parameters of QoL and clinical indices.
SUBJECTS AND METHODS
We enrolled a total of 109 patients with craniopharyngioma. We utilized Short Form 36 (SF-36), Symptom Check List-90, Generalized Anxiety Disorder Questionnaire scale (GAD7), Patient Health Questionnaire Depression (PHQ9) and Pittsburgh Sleep Quality Index to prospectively evaluated their QoL. Parameters of QoL along with clinical indices were compared among sub-groups divided according to Puget classification. Correlation analyses and regression analyses were performed to detect influential determinants to self-reported wellness.
RESULTS
Patients presented impaired QoL compared with general population (p < 0.001), as assessed by SF-36. Correlation analyses indicated the detrimental influence resulting from central diabetes insipidus (CDI). Multivariate linear regression unveiled the adverse effect of CDI on Mental Component Summary (coefficient = -13.869, p= 0.007), GAD7 total score (coefficient = 2.072, p = 0.049) as well as PHQ9 total score (coefficient = 3.721, p = 0.001). Multivariate logistic regression verified CDI as a risk factor of developing depressive symptoms (OR = 6.160, p = 0.001).
CONCLUSION
QoL of patients with craniopharyngioma was remarkably compromised before operation. CDI exerted detrimental influences on patients' QoL and it might serve as a marker for early identification of patients at risk of depression.
Topics: Humans; Quality of Life; Craniopharyngioma; Diabetes Insipidus, Neurogenic; Risk Factors; Surveys and Questionnaires; Pituitary Neoplasms
PubMed: 37988666
DOI: 10.20945/2359-4292-2023-0001 -
Medicine Nov 2023There is a relative wealth of experience in the initial treatment of IgG4-related disease (IgG4-RD), but little is known about therapeutic measures for recurrent cases... (Review)
Review
RATIONALE
There is a relative wealth of experience in the initial treatment of IgG4-related disease (IgG4-RD), but little is known about therapeutic measures for recurrent cases combined with multiple organ and tissue involvement.
PATIENT CONCERNS
A 43-year-old man with a previous diagnosis of IgG4-RD due to recurrent right lacrimal gland enlargement with eyelid erythema presented with diabetes insipidus.
DIAGNOSES
We performed a pituitary Magnetic Resonance Imaging which revealed posterior pituitary rim changes with inhomogeneous enhancement and nodular-like thickening of the pituitary stalk, and performed a water-deprivation-vasopressin test confirmed central diabetes insipidus, and in combination with the patient's elevated IgG4 levels and past medical conditions, we diagnosed central diabetes insipidus, IgG4-related hypophysitis, and IgG4-RD.
INTERVENTIONS
After the patient was admitted to the hospital we gave methylprednisolone 500 mg intravenously once daily for 4 days and again for 4 consecutive days after a 10-day interval. During this period combined with mycophenolate mofetil 250 mg twice daily and desmopressin acetate 0.1 mg 3 times daily.
OUTCOMES
The patient was followed up for a sustained period of 6 months and no side effects of glucocorticoid therapy were noted, there were no signs of recurrence, and the daily urine output stabilized in the normal range.
LESSONS
We recognized that IgG4 levels do not reflect relapse or long-term control, and that glucocorticoid shock therapy is an optional and reliable treatment strategy for relapsed patients.
Topics: Male; Humans; Adult; Glucocorticoids; Diabetes Insipidus, Neurogenic; Immunoglobulin G4-Related Disease; Diabetes Insipidus; Immunoglobulin G; Diabetes Mellitus
PubMed: 37986296
DOI: 10.1097/MD.0000000000036129 -
Orphanet Journal of Rare Diseases Nov 2023Wolfram syndrome (WS) is a rare autosomal recessive multisystem neurodegenerative disease characterized by non-autoimmune insulin-dependent diabetes mellitus, optic...
BACKGROUND
Wolfram syndrome (WS) is a rare autosomal recessive multisystem neurodegenerative disease characterized by non-autoimmune insulin-dependent diabetes mellitus, optic atrophy, sensorineural deafness, and diabetes as the main features. Owing to clinical phenotypic heterogeneity, the misdiagnosis rate is high. However, early accurate diagnosis and comprehensive management are key to improving quality of life and prolonging life.
RESULTS
Eleven patients from seven WS pedigrees with 10 mutation sites (c.1314_1317delCTTT, c.C529T, c.C529A, c.G2105A, c.C1885T, c.1859_1860del, c.G2020A, c.C529A, c.G2105A, and c.G1393C) in the WFS1 gene were included. We conducted further expert department analysis to clarify the diagnosis and analyze the correlation between genes and phenotypes.
CONCLUSIONS
The genotypes of these patients were closely associated with their phenotypes. The clinical data of the patients were analyzed to provide a basis for the diagnosis and clinical management of the disease.
Topics: Humans; Wolfram Syndrome; Neurodegenerative Diseases; Quality of Life; Mutation; Optic Atrophy; Diabetes Mellitus, Type 2
PubMed: 37974252
DOI: 10.1186/s13023-023-02938-5