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 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.

scholarly journals Adrenal Insufficiency - Aetiology, Diagnosis and Treatment

2015 ◽  
Vol 3 (1) ◽  
pp. 36-47
Author(s):  
Nazma Akter ◽  
Nazmul Kabir Qureshi
Keyword(s):  
Quality Of Life ◽  
Adrenal Insufficiency ◽  
Presenting Symptoms ◽  
Life Saving ◽  
Life Threatening ◽  
Diagnostic Work ◽  
Work Up ◽  
Term Management

Adrenal insufficiency is caused by either primary adrenal failure or by hypothalamic-pituitary impairment of the corticotropic axis. Adrenal insufficiency, first codified in 1855 by Thomas Addison, remains relevant in 2014 because of its lethal nature. Though, it is a rare disease but is life threatening when overlooked. Main presenting symptoms such as fatigue, anorexia and weight loss are nonspecific, thus diagnosis is often delayed. The diagnostic work-up is well established but some pitfalls remain. The diagnosis is adequately established by the 250 ?g ACTH (adrenocorticotropic hormone) stimulation test in most cases. Glucocorticoids provide life saving treatment but long-term quality of life is impaired, perhaps because therapy is not given in a physiologic way. Dehydroepiandrosterone-replacement therapy has been introduced that could help to restore quality of life. It may be useful in pubertal girls, but not in adults. Monitoring of glucocorticoid-replacement is difficult due to lack of objective methods of assessment and is therefore largely based on clinical grounds. Thus, long-term management of patients with adrenal insufficiency remains a challenge, requiring an experienced specialist. DOI: http://dx.doi.org/10.3329/dmcj.v3i1.22238 Delta Med Col J. Jan 2015; 3(1): 36-47

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.

Acute heart failure: diagnosis

ESC CardioMed ◽  
2018 ◽  
pp. 1911-1917 ◽  
Author(s):  
Adriaan A. Voors ◽  
Piotr Ponikowski
Keyword(s):  
Heart Failure ◽  
Acute Heart Failure ◽  
Medical Condition ◽  
Specific Treatment ◽  
Length Of Hospital Stay ◽  
Clinical History ◽  
Life Threatening ◽  
Diagnostic Work ◽  
Work Up ◽  
Diagnostic Work Up

Acute heart failure is a life-threatening medical condition typically leading to urgent hospital admission. Early diagnosis is of great importance, since it will lead to earlier and better targeted treatment, leading to a decrease in length of hospital stay, and most importantly to improved clinical outcome. The initial diagnostic work-up includes a clinical history, evaluation of symptoms and signs, an electrocardiogram, chest X-ray, natriuretic peptide levels, echocardiography and perhaps lung ultrasound. After the initial work-up, a clinical classification according to blood pressure, congestion, and peripheral perfusion should be performed, since it will guide treatment. During the diagnostic work-up, treatable and life-threatening conditions always need to be considered since they need immediate and case-specific treatment.

scholarly journals Phenotypical variability of post-partum reversible cerebral vasoconstriction syndrome

2010 ◽  
Vol 2 (2) ◽  
pp. 16 ◽  
Author(s):  
Benjamin Matosevic ◽  
Martin Furtner ◽  
Michael Knoflach ◽  
Christoph Schmidauer ◽  
Georg Wille ◽  
...  
Keyword(s):  
Post Partum ◽  
Treatment Strategies ◽  
Reversible Cerebral Vasoconstriction Syndrome ◽  
Potential Treatment ◽  
Cerebral Vasoconstriction ◽  
Life Threatening ◽  
Diagnostic Work ◽  
Work Up ◽  
Phenotypical Variability ◽  
Diagnostic Work Up

Reversible cerebral vasoconstriction syndrome is recognized increasingly as a complication of the postpartum period. Our series of four cases illustrates its phenotypical variability, summarizes the diagnostic work-up, and outlines potential treatment strategies for this usually benign but sometimes disabling and life-threatening disease.

scholarly journals Diagnostic Work-up and Follow-up in Children with Tall Stature: A Simplified Algorithm for Clinical Practice

2015 ◽  
Vol 7 (4) ◽  
pp. 260-267 ◽  
Author(s):  
Susanne E. Stalman ◽  
Anke Pons ◽  
Jan M. Wit ◽  
Gerdine A. Kamp ◽  
Frans B. Plötz
Keyword(s):  
Clinical Practice ◽  
Tall Stature ◽  
Simplified Algorithm ◽  
Diagnostic Work ◽  
Work Up ◽  
Diagnostic Work Up

scholarly journals THE MANAGEMENT OF VENOUS THROMBOEMBOLIC DISORDERS

2013 ◽  
Vol 3 (3) ◽  
Author(s):  
Diana S. Purwanto
Keyword(s):  
Venous Thromboembolism ◽  
Thrombotic Event ◽  
Venous Stasis ◽  
Initial Management ◽  
Clinical Probability ◽  
Venous Thromboembolic ◽  
Life Threatening ◽  
Diagnostic Work ◽  
Work Up ◽  
D Dimer

Abstrak: Tromboemboli vena (VTE) mengacu pada semua bentuk trombosis patologis yang terjadi di sirkulasi vena, yang paling umum adalah trombosis vena dalam (DVT) pada ekstremitas bawah, namun manifestasi VTE yang paling mengancam nyawa adalah embolisasi trombi vena dalam ke sirkulasi paru, yang disebut emboli paru (PE). Banyak faktor baik yang diturunkan atau didapat, bisa menyebabkan VTE karena faktor-faktor tersebut mempengaruhi stasis vena, kerusakan pembuluh dan hiperkoagulabilitas, sebagai pemicu peristiwa trombotik. Sebuah kombinasi dari tes D-dimer dan probabilitas klinis diperkenalkan oleh Wells sebagai langkah pertama dalam diagnosis. Agen antikoagulan biasanya UFH atau LMWH, harus diberikan untuk menghindari pembentukan bekuan lebih lanjut ketika gangguan VTE dikonfirmasi. Pada saat efek antitrombotik yang memadai dicapai dengan heparin, antikoagulan oral seperti warfarin digunakan untuk mengurangi kemungkinan VTE berulang. Kata kunci: Tromboemboli vena, DVT, PE, D-dimer, antikoagulan.     Abstract: Venous thromboembolism (VTE) refers to all forms of pathologic thrombosis occurring on the venous side of the circulation, the most common of which is deep venous thrombosis (DVT) of the lower extremities. The most life-threatening manifestation of VTE is embolization of venous thrombi to the pulmonary circulation, called pulmonary embolism (PE). Many factors, either inherited or acquired, can cause VTE, since these factors influence the venous stasis, vessel damage and hypercoagulability, as the trigger of thrombotic event.   A combination of a D-dimer assay and clinical probability as a first step in diagnostic work-up was introduced by Wells et al. An initial management of anticoagulant agents usually UFH or LMWH, should be administered to avoid further clot formation when VTE disorder is confirmed. At some point an adequate antithrombotic effect is achieved with heparin, oral anticoagulant such as warfarin is started to reduce the probability of recurrent VTE. Keywords: Venous thromboembolism, DVT, PE, D-dimer, anticoagulant.

Aplastic anaemia in childhood. Description of two cases and review of the literature

Open Medicine ◽  
2009 ◽  
Vol 4 (3) ◽  
pp. 363-368
Author(s):  
Maria Scalzone ◽  
Paola Coccia ◽  
Palma Maurizi ◽  
Giorgio Attinà ◽  
Lucia Liotti ◽  
...  
Keyword(s):  
Aplastic Anaemia ◽  
Opportunistic Infections ◽  
Supportive Therapy ◽  
Review Of The Literature ◽  
Life Threatening ◽  
Diagnostic Work ◽  
Work Up ◽  
Timely Treatment ◽  
Diagnostic Work Up ◽  
Fatal Complications

AbstractChildhood aplastic anaemia (AA) is an uncommon but potentially fatal haematological disorder. Patients with AA receive supportive care based on transfusions and timely treatment of opportunistic infections, along with specific therapies, which may be bone marrow transplantation and immunosuppressive therapy. Early diagnosis and supportive therapy are required to prevent fatal complications like overwhelming sepsis or life threatening haemorrhages. We report two cases of aplastic anaemia having a different aetiology. The diagnostic work-up and the therapeutic management for each case are described below.

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