Copeptin; utility in paediatric patients with hyponatraemia

2021 ◽  
Author(s):  
Rachel L Boal ◽  
James Hughes ◽  
Debbie Matthews ◽  
Helen Johnstone ◽  
Christopher Boot ◽  
...  
Keyword(s):  
Reference Range ◽  
Case Reports ◽  
Underlying Mechanism ◽  
Vasopressin Release ◽  
Diuretic Hormone ◽  
Low Sodium ◽  
Paediatric Patients ◽  
Diagnostic Work ◽  
Work Up ◽  
Diagnostic Work Up

Introduction Copeptin concentrations are a useful component of the diagnostic work-up of paediatric patients with polyuria and polydipsia but the value of measuring copeptin in patients with hyponatraemia is less clear. Case Reports We report 5 children with hyponatraemia in the context of different underlying pathologies. Copeptin concentrations were elevated in 4 cases (13.7, 14.4, 26.1, 233pmol/L; reference range 2.4 – 8.6pmol/L) suggesting that non-osmoregulated vasopressin release (syndrome of inappropriate antidiuretic diuretic hormone or SIADH) was the underlying mechanism for the low sodium levels. In one of the patients there was an underlying diagnosis of Schaaf-Yang syndrome (MAGEL 2 gene mutation) with a clinical picture suggestive of dysregulated vasopressin production with inappropriately high and then low copeptin release. In one hyponatraemic patient, low copeptin concentrations indicated that non-osmoregulated AVP release was not the cause of hyponatraemia and oliguria. Discussion Copeptin measurement did not influence management acutely but helped to clarify the mechanism leading to hyponatraemia when the result was available. Relatively high and low copeptin concentrations in association with hypo and hypernatraemia indicates dysregulated vasopressin production in Schaaf-Yang syndrome. Profound copeptin elevation may be a clue to underlying sepsis.

Biomarker-based diagnostic work-up of invasive pulmonary aspergillosis in immunocompromised paediatric patients - isAspergillusPCR appropriate?

Mycoses ◽  
2015 ◽  
Vol 59 (2) ◽  
pp. 67-74 ◽  
Author(s):  
Dieter Buchheidt ◽  
Mark Reinwald ◽  
Birgit Spiess ◽  
Tobias Boch ◽  
Wolf-Karsten Hofmann ◽  
...  
Keyword(s):  
Invasive Pulmonary Aspergillosis ◽  
Pulmonary Aspergillosis ◽  
Paediatric Patients ◽  
Diagnostic Work ◽  
Work Up ◽  
Diagnostic Work Up

Problem solving in clinical practice: the sick infant with low sodium and high potassium

2020 ◽  
pp. edpract-2019-317756
Author(s):  
Yincent Tse ◽  
Nidhi Singhal ◽  
Leigh McDonald ◽  
Milan Gopal ◽  
Anupam Lall ◽  
...  
Keyword(s):  
Clinical Practice ◽  
Problem Solving ◽  
High Potassium ◽  
Initial Management ◽  
Low Sodium ◽  
Life Threatening ◽  
Diagnostic Work ◽  
Work Up ◽  
Term Management ◽  
Diagnostic Work Up

Many paediatricians will be faced with a sick infant who on investigation is found to have hyponatraemia and hyperkalaemia at some time in their career. The focus of initial management includes the treatment of potentially life-threatening hyperkalaemia with concurrent investigation aiming to elucidate whether the underlying cause reflects a primarily renal or endocrine pathology. We describe the presentation of two infants who each presented with one of the more common underlying diagnoses that led to this biochemical disturbance and discuss the approach to immediate treatment, diagnostic work-up and longer term management.

scholarly journals Cognitive Status Epilepticus: Two Case Reports

Medicina ◽  
2021 ◽  
Vol 57 (8) ◽  
pp. 799
Author(s):  
Eleni Karantali ◽  
Symela Chatzikonstantinou ◽  
Ioannis Mavroudis ◽  
Constantin Trus ◽  
Dimitrios Kazis
Keyword(s):  
Status Epilepticus ◽  
Antiepileptic Drug ◽  
Case Reports ◽  
Cognitive Status ◽  
Epileptic Disorder ◽  
Diagnostic Work ◽  
Focal Status Epilepticus ◽  
Work Up ◽  
Prompt Diagnosis ◽  
Diagnostic Work Up

Cognitive status epilepticus is an uncommon form of focal status epilepticus presenting with a dysfunction of language, thinking or associated higher cortical functions. The absence of ictal manifestations can be misleading and delay a prompt diagnosis. Here we present two patients; one with amnesic and one with aphasic status epilepticus. Through these cases, we aim to highlight the value of EEG performance early in the diagnostic work-up and early antiepileptic drug initiation in cases where an epileptic disorder cannot be excluded.

scholarly journals Severe Hypernatremia in a Significantly Underweight Female Child

2021 ◽  
Vol 2021 ◽  
pp. 1-4
Author(s):  
Megan B. Coriell ◽  
Prasanthi Gandham ◽  
Kupper Wintergerst ◽  
Bradly Thrasher
Keyword(s):  
Diabetes Insipidus ◽  
Pediatric Patients ◽  
Female Child ◽  
Vasopressin Release ◽  
Chronic Malnutrition ◽  
Diagnostic Work ◽  
Work Up ◽  
Diagnostic Work Up

In this study, we present the case of a 5-year-old female who presented for evaluation of dehydration with labs that revealed significant hypernatremia concerning for diabetes insipidus (DI). Further evaluation revealed that she had underlying chronic malnutrition. Her diagnostic work up for DI produced some evidence consistent with DI while other data indicated otherwise, bringing up the possibility of partial DI. She was ultimately diagnosed with sporadic vasopressin release secondary to her chronic malnutrition. This case illustrates another effect chronic malnutrition can have on pediatric patients along with the importance of a broad differential for patients with severe hypernatremia.

Diagnosis and management of urethro-cavernosal fistulas

2020 ◽  
Vol 13 (6) ◽  
pp. 398-401
Author(s):  
Jullet Han ◽  
Saum Ghodoussipour ◽  
Evgeniy I Kreydin ◽  
Leo Doumanian
Keyword(s):  
Case Reports ◽  
Case Series ◽  
Surgical Approaches ◽  
Success Rates ◽  
Long Term Outcomes ◽  
Level Of Evidence ◽  
Diagnostic Work ◽  
Work Up ◽  
Diagnostic Work Up

Objective: To present a case series of urethro-cavernosal fistulas evaluating their diagnostic work-up and management. Methods: A literature search was performed using key words including “urethro-cavernosal fistula,” “urethral fistula,” and “cavernosal fistula.” Results: In total 10 case reports were identified and reviewed for information regarding clinical diagnosis, management, and long-term outcomes including success rates and complications. Conclusion: Urethro-cavernosal fistula is a rare urological condition. With few cases reported to date, there is considerable variation in diagnostic work-up and management. Both conservative and surgical approaches can be utilized in the management of urethro-cavernosal fistulas with good long-term outcomes. Level of evidence: Not applicable for this multicentre audit.

scholarly journals Bone Marrow Trephine Biopsies from Posterior Superior Iliac Crest in Living Neonates.

2020 ◽  
Author(s):  
Sandip Bartakke ◽  
Umesh Lukade ◽  
Shrividya Sethuratnam
Keyword(s):  
Bone Marrow ◽  
Intensive Care ◽  
Neonatal Intensive Care ◽  
Iliac Crest ◽  
Underlying Mechanism ◽  
Neonatal Intensive Care Units ◽  
Diagnostic Work ◽  
Work Up ◽  
First Time ◽  
Diagnostic Work Up

Cytopenias are common among neonates in neonatal intensive care units (NICU). Although, bone marrow aspirations (BMA) are often performed as part of diagnostic work up but trephine marrow biopsies (BMB) have not been reported from living neonates. BMB is indispensable to accurately assess the cellularity and architecture. There is paucity of literature regarding the technique of BMB in neonates. In this report, for the first time, we describe trephine BMB from Posterior superior iliac crest (PSIC) using 18 guage BMA needle in six living neonates admitted to NICU where bone marrow biopsy findings helped in understanding the underlying mechanism and diagnosis of cytopenias.

scholarly journals Stroke masquerading as cardiac arrest: the artery of Percheron

2021 ◽  
Vol 14 (1) ◽  
pp. e238681
Author(s):  
Megan Quetsch ◽  
Sureshkumar Nagiah ◽  
Stephen Hedger
Keyword(s):  
Cardiac Arrest ◽  
Clinical Assessment ◽  
Altered Consciousness ◽  
Cognitive Changes ◽  
Consciousness Level ◽  
Artery Of Percheron ◽  
Conscious Level ◽  
Diagnostic Work ◽  
Work Up ◽  
Diagnostic Work Up

The artery of Percheron (AOP) is a rare arterial variant of the thalamic blood supply. Due to the densely packed collection of nuclei it supplies, an infarction of the AOP can be devastating. Here we highlight a patient who had an AOP stroke in the community, which was initially managed as cardiac arrest. AOP strokes most often present with vague symptoms such as reduced conscious level, cognitive changes and confusion without obvious focal neurology, and therefore are often missed at the initial clinical assessment. This case highlights the importance of recognising an AOP stroke as a cause of otherwise unexplained altered consciousness level and the use of MRI early in the diagnostic work-up.

scholarly journals Death of unknown cause? Post-mortem diagnosis of fulminant course of an EBV-associated secondary hemophagocytic lymphohistiocytosis

2021 ◽  
Author(s):  
Josia Fauser ◽  
Stefan Köck ◽  
Eberhard Gunsilius ◽  
Andreas Chott ◽  
Andreas Peer ◽  
...  
Keyword(s):  
Immune Response ◽  
Case Report ◽  
Macrophage Activation ◽  
Post Mortem ◽  
Life Threatening ◽  
Appropriate Therapy ◽  
Diagnostic Work ◽  
Work Up ◽  
Diagnostic Work Up ◽  
Secondary Hemophagocytic Lymphohistiocytosis

SummaryHLH is a life-threatening disease, which is characterized by a dysregulated immune response with uncontrolled T cell and macrophage activation. The often fulminant course of the disease needs a fast diagnostic work-up to initiate as soon as possible the appropriate therapy. We present herein the case of a 71-year-old patient with rapidly progressive hyperinflammatory syndrome, which post mortem resulted in the diagnosis of EBV-associated HLH. With this case report, we intend to highlight the relevance of the HScore in the diagnosis of HLH, to create a greater awareness for EBV as a trigger of HLH, and to demonstrate the importance of treating EBV-associated HLH as early as possible.

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