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Frontiers in Endocrinology 2024
Topics: Child; Humans; Wolfram Syndrome; Endocrinology
PubMed: 38562411
DOI: 10.3389/fendo.2024.1384549 -
Cureus Feb 2024We present the case of a lung transplant candidate under veno-venous membrane oxygenation assistance (VV ECMO) whose diagnosis of emphysema of...
We present the case of a lung transplant candidate under veno-venous membrane oxygenation assistance (VV ECMO) whose diagnosis of emphysema of undetermined etiology was redefined as Langerhans cell histiocytosis (LCH) due to a scalp skin biopsy performed years after the beginning of his respiratory symptoms. A 20-year-old patient started three years before his admission with progressive dyspnea leading to a diagnosis of bullous emphysema of undetermined cause, which evolved into respiratory failure and evaluation for bilateral lung transplant. Three years later, he developed bilateral pneumonia requiring mechanical ventilation. When refractory hypoxemia ensued, he had to be placed on VV ECMO. Under these conditions, he was transferred to our center and listed for a bilateral pulmonary transplantation. Forty-eight hours after admission, and due to intense polyuria, central diabetes insipidus was diagnosed. In this clinical context, the presence of cutaneous lesions on the scalp was reconsidered and biopsied under the presumption of possible LCH, with pathology analysis confirming the diagnosis. He continued to be assisted with VV ECMO for 66 more days as a bridge to transplantation, developing multi-organ failure and passing away before a donor organ was available. The diagnosis of LCH should be considered in any adult patient with bullous emphysema of undetermined cause. Given the possibility of early therapeutic interventions, the search for its clinical associations (e.g., diabetes insipidus and/or skin lesions) should be a systematic part of the etiologic workup. The availability of skin specimens to reach a diagnosis makes its thorough search an important part of the diagnostic approach.
PubMed: 38558685
DOI: 10.7759/cureus.55226 -
Journal of Medical Case Reports Mar 2024Diabetes insipidus is a syndrome characterized by polyuria, which is almost always associated with polydipsia. The most frequent cause is central diabetes insipidus,...
BACKGROUND
Diabetes insipidus is a syndrome characterized by polyuria, which is almost always associated with polydipsia. The most frequent cause is central diabetes insipidus, which is the result of an inadequate secretion of the antidiuretic hormone, and diagnosis involves differentiating it from other causes of polyuria and polydipsia.
CASE PRESENTATION
Here, we present a clinical case of a previously healthy 13-year-old Nepali boy, who, in December 2022, was found to have intense polydipsia accompanied by polyuria. He had bilateral lower limb weakness at the time of presentation. Biochemical evaluation demonstrated raised serum sodium (181 mEq/L), serum creatinine (78 μmol/L), and serum uric acid (560 μmol/L) with suppressed serum potassium (2.7 mEq/L), which was the major concern to the clinicians. Further laboratory workup revealed an increased serum osmolarity (393.6 mOsm/kg) with reduced urine osmolarity (222.7 mOsm/kg). On contrast magnetic resonance imaging of the brain, a thick-walled third ventricular cyst with bilateral foramen obstruction, thin membrane-like structure at top of aqueduct of Sylvius with gross obstructive hydrocephalus (inactive), and compressed and thinned pituitary gland with no bright spot was observed. The laboratory findings, radiological findings, and case presentation provided the provisional diagnosis of diabetes insipidus due to hydrocephalus and third ventricular cyst.
CONCLUSIONS
Central diabetes insipidus due to hydrocephalus, though rare, can have serious complications including the predilection to develop a deficit of other pituitary hormones. Thus, even if hydrocephalus is dormant with normal intracranial pressure, it must be addressed during investigations of central diabetes insipidus.
Topics: Male; Humans; Adolescent; Diabetes Insipidus, Neurogenic; Polyuria; Uric Acid; Diabetes Insipidus; Vasopressins; Polydipsia; Hydrocephalus; Cysts
PubMed: 38555457
DOI: 10.1186/s13256-024-04467-6 -
Journal of Cancer Research and... Jan 2024Metastasis to pituitary gland is a rare condition, and patients are usually asymptomatic. Diabetes insipidus (DI) is the most common presenting symptom, and breast...
Metastasis to pituitary gland is a rare condition, and patients are usually asymptomatic. Diabetes insipidus (DI) is the most common presenting symptom, and breast cancer is the most common source of pituitary metastasis (PM). We report a case of PM of breast cancer presenting as DI. A 45-year-old female patient presented to our department with complaints of polyuria and polydipsia. She had a medical history of metastatic breast adenocarcinoma. Laboratory data showed normal fasting plasma glucose level and hypotonic urine. Brain magnetic resonance imaging (MRI) showed infiltration of the pituitary stalk and the absence of the posterior pituitary bright spot consistent with metastasis to the pituitary gland. The water deprivation and vasopressin challenge tests confirmed central DI. Pituitary function tests revealed disconnection hyperprolactinemia with a menopausal profile. The patient was treated with vasopressin with great clinical results. Pituitary metastases are rare but should be suspected in patients with metastatic cancer who present with DI.
Topics: Female; Humans; Middle Aged; Breast Neoplasms; Diabetes Insipidus; Diabetes Mellitus; Magnetic Resonance Imaging; Pituitary Gland; Pituitary Neoplasms; Vasopressins
PubMed: 38554375
DOI: 10.4103/jcrt.jcrt_224_21 -
World Neurosurgery Jun 2024Enhanced Recovery After Surgery (ERAS) is a perioperative model of care aimed at optimizing postoperative rehabilitation and reducing hospital length of stay (LOS).... (Review)
Review
Endoscopic Endonasal Transsphenoidal Surgery for the Resection of Pituitary Adenomas: A Prime Candidate for a Shortened Length of Stay Enhanced Recovery after Surgery Protocol? A Systematic Review.
BACKGROUND
Enhanced Recovery After Surgery (ERAS) is a perioperative model of care aimed at optimizing postoperative rehabilitation and reducing hospital length of stay (LOS). Decreasing LOS avoids hospital-acquired complications, reduces cost of care, and improves patient satisfaction. Given the lack of ERAS protocols for endoscopic endonasal transsphenoidal surgery (EETS) resection of pituitary adenomas, a systematic review of EETS was performed to compile patient outcomes and analyze factors that may lead to increased LOS, reoperation, and readmission rates with the intention to contribute to the development of a successful ERAS protocol for EETS.
METHODS
The authors performed a Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines-based systematic review of the literature. Information was extracted regarding patient LOS, surgery complications, and readmission/reoperation rates. Pearson's correlations to LOS and reoperation/readmission rates were performed with variables normalized to the number of participants. Statistical significance was set at P value <0.05.
RESULTS
Fourteen studies were included, consisting of 2083 patients. The most common complications were cerebrospinal fluid leaks (37%) and postoperative diabetes insipidus (DI) (9%). Transient DI was significantly correlated with shorter LOS. Functional pituitary adenomas were significantly correlated with lower readmission rates while nonfunctional pituitary adenomas were correlated with higher readmission rates. No other factor was found to be significantly correlated with a change in LOS or reoperation rate.
CONCLUSIONS
EETS may be an ideal candidate for the development of ERAS cranial protocols. While our data largely supports the safe implementation of shortened LOS protocols in EETS, our findings highlight the importance of transient DI and nonfunctional pituitary adenomas management when formulating ERAS protocols.
Topics: Humans; Pituitary Neoplasms; Adenoma; Length of Stay; Enhanced Recovery After Surgery; Neuroendoscopy; Postoperative Complications; Patient Readmission; Reoperation; Neurosurgical Procedures
PubMed: 38552787
DOI: 10.1016/j.wneu.2024.03.135 -
Medicine Mar 2024Cyclophosphamide (CTX) is widely used in the treatment of malignancies and autoimmune diseases. Although severe hyponatremia caused by low-dose CTX chemotherapy is... (Review)
Review
RATIONALE
Cyclophosphamide (CTX) is widely used in the treatment of malignancies and autoimmune diseases. Although severe hyponatremia caused by low-dose CTX chemotherapy is uncommon, it can lead to serious complications and even death.
PATIENT CONCERNS
A 44-year-old woman with left-sided breast cancer suddenly experienced headaches, disorientation and weakness after receiving low-dose neoadjuvant chemotherapy combined with CTX and doxorubicin.
DIAGNOSES
The patient pathology showed invasive breast carcinoma. She developed severe hyponatremia and a generalized seizure after completing the first cycle of neoadjuvant chemotherapy with CTX and doxorubicin. Laboratory tests showed a serum sodium of 118 mmol/L (normal range 135-145 mmol/L) and potassium sodium 3.16 mmol/L (normal range 3.5-5.5 mmol/L). Subsequently, the patient developed secondary diabetes insipidus 4 hours after sodium supplementation, her 24-hour urine volume was 4730 mL (normal range 1000-2000 mL/24 hours), and the urine specific gravity decreased to 1.005.
INTERVENTIONS
The patient was given intravenous sodium chloride (500 mL of 3%NaCl, 100 mL/hour) and potassium chloride (500 mL of 0.3%KCl, 250 mL/hour). Meanwhile, she was advised to reduce her water intake, and pituitrin was administered to prevent dehydration caused by diabetes insipidus.
OUTCOMES
The patient completely recovered after correcting of the serum sodium concentration (137 mmol/L) without any neurological deficits. After discontinuing pituitrin, her 24-hour urine volume was 2060 mL and the urine specific gravity was 1.015.
LESSONS
This is a typical case of severe hyponatremia induced by low-dose CTX. Clinicians and healthcare providers should be aware of this potential toxicity, and appropriate monitoring should be implemented.
Topics: Humans; Female; Adult; Hyponatremia; Breast Neoplasms; Diabetes Insipidus; Cyclophosphamide; Sodium; Doxorubicin; Pituitary Hormones, Posterior; Diabetes Mellitus
PubMed: 38552085
DOI: 10.1097/MD.0000000000037572 -
Neurosurgery Mar 2024Arginine vasopressin (AVP) is an important hormone responsible for maintaining sodium homeostasis after pituitary surgery. The measurement of AVP levels is difficult...
BACKGROUND AND OBJECTIVES
Arginine vasopressin (AVP) is an important hormone responsible for maintaining sodium homeostasis after pituitary surgery. The measurement of AVP levels is difficult because of its short half-life (t1/2). Copeptin is a preprohormone of AVP, and it is a more stable peptide, which can be used as surrogate marker for AVP. This study aims to assess the role of copeptin as a predictor of postoperative hyponatremia and hypernatremia in patients undergoing endoscopic pituitary adenoma surgery.
METHODS
This prospective study included 50 patients who underwent endoscopic pituitary adenoma surgery. Serum copeptin levels of these patients were assessed (1) preoperatively (C1), (2) at extubation (C2), and (3) postoperative day 4 (C3). Perioperative data regarding fluid and sodium balance were collected from patients. Statistical analysis was done using the above data.
RESULTS
The copeptin values were assessed against the sodium disturbances. 100% of patients who developed transient diabetes insipidus had a relative decrease in C2 from C1 (P - .0002). 88% of patients who developed early hyponatremia had a relative increase in C2 as compared with C1 (P < .01). 75% of patients who developed delayed hyponatremia had a relative increase in C3 as compared with C1 (P = .003).
CONCLUSION
A relative increase or decrease in early change in copeptin (C2-C1) can predict development of early hyponatremia or transient central diabetes insipidus, respectively. A relative increase in delayed change in copeptin (C3-C1) can predict development of delayed hyponatremia.
PubMed: 38551356
DOI: 10.1227/neu.0000000000002927 -
European Journal of Endocrinology May 2024Distinguishing arginine vasopressin deficiency (AVP-D; central diabetes insipidus) from primary polydipsia (PP), commonly referred to as psychogenic polydipsia, is...
OBJECTIVE
Distinguishing arginine vasopressin deficiency (AVP-D; central diabetes insipidus) from primary polydipsia (PP), commonly referred to as psychogenic polydipsia, is challenging. Psychopathologic findings, commonly used for PP diagnosis in clinical practice, are rarely evaluated in AVP-D patients, and no comparative data between the two conditions currently exist.
DESIGN
Data from two studies involving 82 participants [39 AVP-D, 28 PP, and 15 healthy controls (HC)].
METHODS
Psychological evaluations were conducted using standardized questionnaires measuring anxiety [State-Trait Anxiety Inventory (STAI)], alexithymia [Toronto Alexithymia Scale (TAS-20)], depressive symptoms (Beck's Depression Inventory-II (BDI-II), and overall mental health [Short Form-36 Health Survey (SF-36)]. Higher STAI, TAS-20, and BDI-II scores suggest elevated anxiety, alexithymia, and depression, while higher SF-36 scores signify better overall mental health.
RESULTS
Compared to HC, patients with AVP-D and PP showed higher levels of anxiety (HC 28 points [24-31] vs AVP-D 36 points [31-45]; vs PP 38 points [33-46], P < .01), alexithymia (HC 30 points [29-37] vs AVP-D 43 points [35-54]; vs PP 46 points [37-55], P < .01), and depression (HC 1 point [0-2] vs AVP-D 7 points [4-14]; vs PP 7 points [3-13], P < .01). Levels of anxiety, alexithymia, and depression showed no difference between both patient groups (P = .58, P = .90, P = .50, respectively). Compared to HC, patients with AVP-D and PP reported similarly reduced self-reported overall mental health scores (HC 84 [68-88] vs AVP-D 60 [52-80], P = .05; vs PP 60 [47-74], P < .01).
CONCLUSION
This study reveals heightened anxiety, alexithymia, depression, and diminished overall mental health in patients with AVP-D and PP. The results emphasize the need for careful interpretation of psychopathological characteristics to differentiate between AVP-D and PP.
Topics: Humans; Female; Male; Adult; Depression; Middle Aged; Anxiety; Diabetes Insipidus, Neurogenic; Affective Symptoms; Arginine Vasopressin; Polydipsia, Psychogenic; Young Adult; Polydipsia; Case-Control Studies
PubMed: 38551325
DOI: 10.1093/ejendo/lvae040 -
BioMed Research International 2024[This retracts the article DOI: 10.1155/2022/7073158.].
Retracted: A Novel Missense Mutation of Arginine Vasopressin Receptor 2 in a Chinese Family with Congenital Nephrogenic Diabetes Insipidus: X-Chromosome Inactivation in Female CNDI Patients with Heterozygote 814A>G Mutation.
[This retracts the article DOI: 10.1155/2022/7073158.].
PubMed: 38550046
DOI: 10.1155/2024/9753837 -
Frontiers in Oncology 2024Erdheim-Chester disease (ECD) is a rare disease that belongs to the group of Dendritic and histiocytic neoplasms. Only 2000 cases have been reported worldwide. It can...
INTRODUCTION
Erdheim-Chester disease (ECD) is a rare disease that belongs to the group of Dendritic and histiocytic neoplasms. Only 2000 cases have been reported worldwide. It can present with a wide range of symptoms, making a differential diagnosis especially difficult. The primary and most important diagnostic tool is a biopsy of the affected organ/tissue. Nowadays the analysis of different mutations affecting the BRAF and MAPK pathways makes it possible to use targeted treatments, such as vemurafenib, dabrafenib, or cobimetinib.
OBJECTIVE
Our aim is to present the results of three male patients treated in our hematology department.
RESULTS
Our BRAF mutation-positive patient presented with retroperitoneal tissue proliferation and diabetes insipidus. The initial therapy of choice was dabrafenib. After 3 months of treatment, F-fluoro-deoxyglucose positron emission tomography (FDG-PET)/computed tomography (CT) scans showed regression, and after 2 years of treatment, no disease activity was detected. In our second patient, a recurrent febrile state (not explained by other reasons) and diabetes insipidus suggested the diagnosis. A femoral bone biopsy confirmed BRAF-negative ECD. The first-line therapy was interferon-alpha. After 3 months of treatment, no response was observed on FDG-PET/CT, and treatment with cobimetinib was started. The control FDG-PET/CT imaging was negative. Our third patient was evaluated for dyspnea, and a CT scan showed fibrosis with hilar lymphadenomegaly. A lung biopsy confirmed BRAF-negative ECD. We started treatment with interferon-alpha, but unfortunately, no improvement was observed. Second-line treatment with cobimetinib resulted in a partial metabolic response (PMR) according to control FDG-PET/CT.
CONCLUSIONS
Our results demonstrate that an appropriately chosen treatment can lead to a good therapeutic response, but dose reduction may be necessary due to side effects. With advanced targeted therapeutic treatment options, survival and quality of life are significantly improved.
PubMed: 38549927
DOI: 10.3389/fonc.2024.1305518