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The New England Journal of Medicine May 2024
Topics: Female; Humans; Male; Diabetes Insipidus, Nephrogenic; Hunger; Thirst; Child; Hypothalamus; Animals; Mice; Brain; Drinking Behavior; Feeding Behavior; Attention Deficit Disorder with Hyperactivity; Growth Disorders
PubMed: 38810192
DOI: 10.1056/NEJMcibr2400066 -
Cureus Apr 2024Arginine vasopressin deficiency (AVP-D), formerly known as central diabetes insipidus, is a disease characterized by polyuria, polydipsia, and hypernatremia. The...
Arginine vasopressin deficiency (AVP-D), formerly known as central diabetes insipidus, is a disease characterized by polyuria, polydipsia, and hypernatremia. The concomitant diagnosis of acute myeloid leukemia (AML) is an underappreciated event that requires prompt recognition and treatment by practicing nephrologists and hematologists. This report highlights this importance by describing the case of a 39-year-old patient newly diagnosed with AML who developed severe hypernatremia. The role of diagnostic testing through desmopressin (DDAVP) challenge and copeptin testing to confirm the diagnosis of AVP-D in this context and the use of DDVAP for treatment are discussed. Practicing nephrologists and primary care providers taking care of patients with similar symptoms will benefit from understanding the pathophysiology of AVP-D, its relationship with AML, and the prognosis in this patient cohort.
PubMed: 38807832
DOI: 10.7759/cureus.59186 -
A Rare Association of Autoimmune Hypophysitis With Seronegative Rheumatoid Arthritis: A Case Report.Cureus Apr 2024Autoimmune hypophysitis (AH) is an uncommon condition where there is inflammation of the pituitary gland which leads to hormonal imbalances. It is often associated with...
Autoimmune hypophysitis (AH) is an uncommon condition where there is inflammation of the pituitary gland which leads to hormonal imbalances. It is often associated with autoimmune diseases; however, a case is yet to be reported with an association of AH with seronegative rheumatoid arthritis (RA). We present a case of a 45-year-old female who complained of polyuria/polydipsia and rapid weight gain. An MRI of the head revealed enlargement of the pituitary gland, concerning for AH. Although she was initially treated for diabetes insipidus, she began reporting new complaints of joint pains and morning stiffness. She was clinically diagnosed with seronegative RA and improved with a trial of hydroxychloroquine. A repeat MRI showed improvement in the abnormal pituitary findings, and the patient was closely monitored with a multidisciplinary approach. Diagnosing and managing patients with AH are topics that are still being explored and researched as it is a relatively rare pathology. Consequently, we found the need to discuss the relationship of AH with seronegative RA and delve into the various diagnostic and treatment approaches.
PubMed: 38807817
DOI: 10.7759/cureus.59167 -
Reviews in Endocrine & Metabolic... Jun 2024Hypopituitarism is a rare endocrine disorder characterized by insufficient hormone secretion from the pituitary gland. This condition leads to deficient production of... (Review)
Review
Hypopituitarism is a rare endocrine disorder characterized by insufficient hormone secretion from the pituitary gland. This condition leads to deficient production of one or more pituitary hormones, including growth hormone (GH), thyroid-stimulating hormone (TSH), luteinizing hormone (LH), follicle-stimulating hormone (FSH), adrenocorticotropic hormone (ACTH), and antidiuretic hormone (ADH), also called arginine vasopressin (AVP). Symptoms vary widely and are often not, late recognized.Diagnosis typically involves a thorough clinical evaluation, hormone level assessments, and neuroimaging studies to identify underlying causes. Treatment aims to replace deficient hormones and address the underlying cause and related complications when possible. In this special issue we address diagnosis, comorbidities, and management of hypopituitarism. We hope that it will help healthcare professionals to manage their patients.
Topics: Humans; Hypopituitarism
PubMed: 38801648
DOI: 10.1007/s11154-024-09889-7 -
Rinsho Shinkeigaku = Clinical Neurology Jun 2024A 78-year-old man complained of subacute general fatigue and anorexia, following diplopia and gait disturbance. He demonstrated wide-based and small-stepped gait without...
A 78-year-old man complained of subacute general fatigue and anorexia, following diplopia and gait disturbance. He demonstrated wide-based and small-stepped gait without objectively abnormal ocular movements. Brain MRI showed enlargement of the pituitary stalk and gland with uniform contrast enhancement. PET-CT showed FDG uptake in the pituitary gland, mediastinal lymph nodes, and left hilar lymph nodes. Blood investigations revealed panhypopituitarism and high serum IgG4 levels up to 265 mg/dl. Histopathological examination revealed no IgG4-positive cell infiltration in the biopsied mediastinal lymph nodes. However, we suspected IgG4-associated hypophysitis based on the clinical symptoms and MRI findings, which were markedly resolved with steroid. Central masked diabetes insipidus was manifested, but was improved with oral desmopressin. We should pay close attention to the fact that IgG4-related hypophysitis may present with various symptoms regarded as indefinite complaints related to aging or underlying diseases, especially in elderly patients with multimorbidity.
Topics: Humans; Male; Aged; Hypopituitarism; Diabetes Insipidus, Neurogenic; Immunoglobulin G; Deamino Arginine Vasopressin; Magnetic Resonance Imaging; Autoimmune Hypophysitis; Positron Emission Tomography Computed Tomography; Hypophysitis; Biomarkers; Immunoglobulin G4-Related Disease; Treatment Outcome
PubMed: 38797688
DOI: 10.5692/clinicalneurol.cn-001934 -
Problemy Endokrinologii Sep 2023Polydipsia is a pathologically increased thirst, satisfied by the intake of water in large quantities, which can manifest itself in various somatic or mental diseases...
Polydipsia is a pathologically increased thirst, satisfied by the intake of water in large quantities, which can manifest itself in various somatic or mental diseases and at first glance is similar to a true vasopressin deficiency. Central diabetes insipidus (CDI) is a disease of the hypothalamic-pituitary region characterized by the inability of the kidneys to reabsorb water and concentrate urine, which is based on a defect in the synthesis or secretion of vasopressin and is manifested by severe thirst and excretion of large amounts of hypotonic urine. The prevalence of the disease in the population is 1:25,000, which characterizes it as a fairly rare pathology of the hypothalamic-pituitary region. The peak incidence is between 30 and 40 years of age. According to various literary sources, the disease is not characterized by gender differences in prevalence, however, on the example of the Moscow population, women prevailed in the incidence structure of CND in a ratio of 2.2:1. Insidiousness, with apparent absences in the difficulty of diagnosing primary polydipsia, lies in the manifestations of water intoxication, thus this condition requires knowledge of clear diagnostic criteria by healthcare professionals and an interdisciplinary approach in the treatment of this condition. On the example of this clinical case, we will try to highlight the differential diagnostic criteria for psychogenic polydipsia in comparison with the true deficiency of arginine vasopressin (AVP) or central diabetes insipidus (CDI), which can be applied in real clinical practice.
Topics: Humans; Polydipsia, Psychogenic; Female; Adult; Diagnosis, Differential; Male; Thirst; Polydipsia; Water Intoxication
PubMed: 38796762
DOI: 10.14341/probl13359 -
Operative Neurosurgery (Hagerstown, Md.) May 2024Lateralization or mobilization of the internal carotid artery (ICA) during a midline approach is required to expose lesions behind or lateral to the ICA. However, there...
BACKGROUND AND OBJECTIVES
Lateralization or mobilization of the internal carotid artery (ICA) during a midline approach is required to expose lesions behind or lateral to the ICA. However, there have been no published data regarding the surgical outcomes of the endoscopic endonasal internal carotid transposition technique (EEITT). This study aimed to analyze the relevant surgical anatomy around the ICA and propose a grading scheme of EEITT.
METHODS
A retrospective review of patients who underwent EEITT at a single institution was performed. Based on structures that limited the ICA and intraoperative findings, an anatomically surgical grading scheme of EEITT was proposed.
RESULTS
Forty-two patients (mean age 45.6 years, 57.1% female patients) were included. Of them, 29 cases (69.0%) were Knosp grade 4 pituitary adenoma, 6 cases (14.3%) were chordoma, 6 cases (14.3%) were meningioma, and a single case (2.4%) was meningeal IgG4-related disease. The EEITT was categorized into Grades 1, 2 and 3, which was used in 24 (57.1%), 12 (28.6%), and 6 (14.3%) cases, respectively. The most common symptom was visual disturbance (45.2%). The gross total resection rate in Grade 1 (79.2%) and Grade 2 (83.3%) was much higher than that in Grade 3 (66.6%). The overall rate of visual function improvement, preoperative cranial nerve (CN) palsy improvement, and postoperative hormonal remission was 89.4%, 85.7%, and 88.9%, respectively. The rate for the following morbidities was cerebrospinal fluid leakage, 2.4%; permanent diabetes insipidus, 4.8%; new transient CN palsy, 9.5%; permanent CN palsy, 4.7%; panhypopituitarism, 7.1%; and ICA injury, 2.4%.
CONCLUSION
The EEITT is technically feasible and could be graded according to the extent of disconnection of limiting structures. For complex tumor with parasellar extensions, the distinction into Grades 1, 2, and 3 will be of benefit to clinicians in predicting risks, avoiding complications, and generating tailored individualized surgical strategies.
PubMed: 38781485
DOI: 10.1227/ons.0000000000001193 -
Journal of Nephrology May 2024The integration of ChatGPT into nephrology presents opportunities for enhanced decision-making and patient care. However, refining its performance to meet the specific...
BACKGROUND
The integration of ChatGPT into nephrology presents opportunities for enhanced decision-making and patient care. However, refining its performance to meet the specific needs of nephrologists remains a challenge. This guide offers a strategic roadmap for advancing ChatGPT's effectiveness in nephrological applications.
METHODS
Utilizing the advanced capabilities of GPT-4, we customized user profiles to optimize the model's response quality for nephrological inquiries. We assessed the efficacy of chain-of-thought prompting versus standard prompting in delineating the diagnostic pathway for nephrogenic diabetes insipidus-associated hypernatremia and polyuria. Additionally, we explored the influence of integrating retrieval-augmented generation on the model's proficiency in detailing pharmacological interventions to decelerate the progression from chronic kidney disease (CKD) G3 to end-stage kidney disease (ESKD), comparing it to responses without retrieval-augmented generation.
RESULTS
In contrast to the standard prompting, the chain-of-thought method offers a step-by-step diagnostic process that mirrors the intricate thought processes needed for diagnosing nephrogenic diabetes insipidus-related hypernatremia and polyuria. This begins with an initial assessment, notably including a water deprivation test. After evaluating the outcomes of this test, the approach continues by identifying potential causes. Furthermore, if a patient's history suggests lithium usage, the chain-of-thought model adjusts by proposing a more customized course of action. In response to "List medication treatment to help slow progression of CKD G3 to ESKD?", GPT-4 only provides a general summary of medication options. Nevertheless, a specialized GPT-4 model equipped with a retrieval-augmented generation system delivers more precise responses, including renin-angiotensin system inhibitors, sodium-glucose cotransporter-2 inhibitors, and mineralocorticoid receptor antagonists. This aligns well with the 2024 KDIGO guidelines.
CONCLUSIONS
GPT-4, when integrated with chain-of-thought prompting and retrieval-augmented generation techniques, demonstrates enhanced performance in the nephrology domain. This guide underscores the transformative potential of chain-of-thought and retrieval-augmented generation techniques in optimizing ChatGPT for nephrology, and highlights the ongoing need for innovative, tailored AI solutions in specialized medical fields.
PubMed: 38771519
DOI: 10.1007/s40620-024-01974-z -
Operative Neurosurgery (Hagerstown, Md.) May 2024Giant pediatric craniopharyngiomas are rare tumors whose clinical and surgical management is extremely challenging. A variety of open transcranial approaches has been...
BACKGROUND AND OBJECTIVES
Giant pediatric craniopharyngiomas are rare tumors whose clinical and surgical management is extremely challenging. A variety of open transcranial approaches has been used to resect these lesions. Although there has been an increasing acceptance of the endoscopic endonasal approach (EEA) for the resection of pediatric craniopharyngiomas in recent years, many surgeons continue to recommend against the use of the EEA for giant pediatric craniopharyngiomas. This study aimed to evaluate the feasibility of extended EEA for giant craniopharyngiomas in the pediatric population.
METHODS
All consecutive pediatric patients with giant craniopharyngiomas (diameter >4 cm) who underwent endoscopic endonasal surgery at our institution were retrospectively reviewed. Data on demographic information, preoperative assessment, imaging features, surgical results, complications, and recurrences were recorded and analyzed.
RESULTS
A total of 16 pediatric patients with an average age of 12 years were identified. The mean maximum diameter and volume of the tumors were 4.35 cm and 24.1 cm3, respectively. Gross total resection was achieved in 13 patients (81.3%) and subtotal resection in 3 patients (18.7%). Postoperatively, partial or complete anterior pituitary insufficiency occurred in 100% of patients, and 62.5% developed new-onset diabetes insipidus. Visual function improved in 9 patients (56.3%) and remained stable in 7 patients (43.7%). Postoperative cerebrospinal fluid leakage occurred in 2 patients and was successfully repaired through the EEA. During a mean follow-up of 44.3 months, 18.8% of patients had a >9% increase in body mass index, and 93.8% of patients successfully returned to school or work. Two patients (12.5%) suffered a recurrence. Disease control was achieved in 16 patients (100%) at final follow-up.
CONCLUSION
The extended EEA allows adequate access to this challenging tumor and enables complete resection and visual improvement with a reasonable approach-related complication rate.
PubMed: 38771078
DOI: 10.1227/ons.0000000000001191 -
The American Journal of Case Reports May 2024BACKGROUND Nephrogenic diabetes insipidus (NDI) is a rare renal disorder that can be congenital, and is caused by mutations in either aquaporin 2 or arginine vasopressin...
A Rare Case of Congenital Nephrogenic Diabetes Insipidus Associated with Aquaporin 2 Gene Mutation and Subsequent Acute Lymphoblastic Leukemia: Impact of Steroids on Kidney Function.
BACKGROUND Nephrogenic diabetes insipidus (NDI) is a rare renal disorder that can be congenital, and is caused by mutations in either aquaporin 2 or arginine vasopressin receptor 2, or it can be secondary to kidney disease or electrolyte imbalance. The clinical signs of NDI include polyuria, compensatory polydipsia, hypernatremic dehydration, and growth retardation without prompt treatment. In this report, we present the case of a patient with congenital NDI who was later diagnosed with acute lymphoblastic leukemia (ALL). With dexamethasone treatment, he had uncontrolled polyuria and polydipsia. Our aim was to concentrate on the impact of steroids on the kidneys. CASE REPORT Our patient presented at the age of 9 months with signs of severe dehydration that were associated with polyuria. His laboratory examinations revealed hypernatremia and decreased urine osmolality. He was diagnosed with NDI and his exome sequence revealed a homozygous mutation at the nucleotide position AQP2 NM_000486.6: c.374C>T (p.Thr125Met). He was treated with hydrochlorothiazide and amiloride. Then, at age 19 months, he presented with gastroenteritis and a complete blood count (CBC) showed high white blood cell count and blast cells. He was diagnosed with (ALL) and began receiving chemotherapy, during which again developed polydipsia and polyuria, which could not be controlled with an increased dosage of hydrochlorothiazide. CONCLUSIONS We report a rare case of NDI caused by a missense mutation in the aquaporin 2 gene. One year later, the child developed ALL, and treatment with dexamethasone led to an uncompensated state of polydipsia and polyuria.
Topics: Humans; Male; Diabetes Insipidus, Nephrogenic; Aquaporin 2; Precursor Cell Lymphoblastic Leukemia-Lymphoma; Infant; Dexamethasone; Mutation; Glucocorticoids
PubMed: 38769718
DOI: 10.12659/AJCR.943597