Clinical description FP is an asymptomatic condition that presents through blood tests as unexpectedly high plasma potassium levels, after storage at or below room temperature. [orpha.net]

Disclosures I have no disclosures relevant to today’s presentation. Question Every year at phlebotomy conference, I present a talk that’s always called “Phlebotomy Top Gun.” The format of “Phlebotomy Top Gun” is a case-based presentation. [news.mayomedicallaboratories.com]

The present mapping work confirms this relationship, and the comparison of temperature effects shows that different thermotropic variants can be due to mutations of what is almost certainly the same gene. [bloodjournal.org]

Case Presentation The patient, an 83-year-old man with a long history of asymptomatic CLL, was noted to have rapid WBC doubling time. [mdedge.com]

• Movement Disorder

  […] caused by mutation in the KX gene --> codes for a membrane precursor of Kell ags -reduced RBC deformability -shortened RBC survival 1. acanthocytosis 2. mild anemia 3. chorea (movement disorder) 4. peripheral neuropathy 5. myopathy 6. neuropsychiatric [quizlet.com]

  This causes the characteristic neurological symptoms (seizures, mental retardation, and movement disorders). The hemolysis and cataracts appear to be due to the altered cation permeability of the mutant channel. [cancertherapyadvisor.com]

• Food Poisoning

  Poisoning FP Fiscal Policy FP Food Processing FP Fastpitch FP Fixed Point FP Freeport (Everquest) FP Force Protection (US Air Force) FP Fitness Program (US Air Force) FP Fruit Punch (soft drink) FP Fixed Price (contract) FP Full Power FP Fuel Pump FP [acronyms.thefreedictionary.com]

• Long Arm

  High impact information on DHS After the exclusion of a portion of the human genome, we obtained conclusive evidence for linkage of DHS to microsatellite markers on the long arm of chromosome 16 (16q23-q24) [5]. [wikigenes.org]

  These findings clearly showed that FP disease locus in this family maps at the same position as DHS on the long arm of chromosome 16 (16q23-qter). Table 2. [bloodjournal.org]

  The gene, known as ABCB6, is located on the long arm of chromosome 2 (2q36). [ipfs.io]

  The defective gene has been traced to a relatively small segment on the long arm of chromosome 16 (q24.2-qter), and was recently pinpointed to a protein called Piezo1 (gene name FAM38A) in multiple HX kindreds. [cancertherapyadvisor.com]

However, pseudohyperkalaemia is a common laboratory artefact and, if unrecognised, may lead to a dilemma. 1 2 Workup for falsely elevated potassium levels may lead to delay in treatment and waste of resources. [hkmj.org]

The clinical necessity of routine potassium testing in healthy normal individuals without renal dysfunction or symptoms of hyperkalemia or hypokalemia needs to be discussed and addressed in each laboratory and clinical practice, since workup algorithms [jalm.aaccjnls.org]

Furthermore, the authors suggest that if the above workup is inconclusive for cause, a renal biopsy should be performed. [renalfellow.blogspot.com]

• Anisopoikilocytosis

  We have previously shown a reduced RBC lifespan, slightly abnormal MCHC and blood film, with anisopoikilocytosis, polychromaphiliia, and few target cells and stomatocytes. 3 The cells showed minimal dehydration. 10 Fig. 1. [bloodjournal.org]

• Plasmodium Falciparum

  Duraisingh, Erythrocytes lacking the Langereis blood group protein ABCB6 are resistant to the malaria parasite Plasmodium falciparum, Communications Biology, 10.1038/s42003-018-0046-2, 1, 1, (2018). S.L. [doi.org]

• Candida

  A 60-year-old man with sepsis, requiring intubation, developed Candida albicans infection after a prolonged course of antibiotics. He is on amphotericin B. Which one of the following adverse effects of amphotericin B is CORRECT? B. [abdominalkey.com]

Management and treatment No treatment is required. [orpha.net]

This case report emphasizes early recognition and diagnosis of pseudohyperkalemia and prevention of unnecessary and potentially dangerous treatment. [sjkdt.org]

The plasma potassium level in the pre-treatment arterial specimen was 4.2 mmol/L. Potassium level was measured again after dextrose-insulin using an arterial heparinised sample. [hkmj.org]

Ongoing loss of water during the course of treatment should be accounted for in the course of treatment. It is safe to measure plasma and urine electrolyte every one or two hours in the initial phase of management. [synapse.koreamed.org]

Prognosis The prognosis for patients is excellent. Most patients remain asymptomatic. The documents contained in this web site are presented for information purposes only. [orpha.net]

WBC > RBCs in which the margin appears indented, purportedly due to splenic removal of a Heinz body Treatment and Prognosis of G6PD deficiency -preventing the common manifestations of hemolytic anemia and neonatal jaundice -avoidance of fava bean consumption [quizlet.com]

The classification is useful in the sense that there was a statistically significant correlation between IgA subclass and renal survival (with subclass I having the best prognosis and subclass V having the worst prognosis). [renalfellow.blogspot.com]

Etiology All families identified so far have mutations in the ABCB6 gene (2q36), leading to an inherited abnormality in the movement of ions across the red cell membrane, such that when the red cells are cooled they lose potassium into the plasma. [orpha.net]

Rule out etiologies of reactive thrombocytosis. If etiology is identified, then treat underlying disease or remove inciting process. Your patient may have pseudohyperkalemia on serum basic metabolic panel as high as 9 milliequivalents/liter (mEq/L). [clinicaladvisor.com]

Renal etiologies of hypokalemiaExcess mineralocorticoid states Secondary hyperaldosteronism - Diuretics, GI fluid losses Source Undetermined 65. [slideshare.net]

Summary Epidemiology The prevalence is unknown. Less than 15 kindreds have been reported in the literature so far (the majority being from the United Kingdom). [orpha.net]

The involvement of cation leaks in the storage lesion of red blood cells JF Flatt, WM Bawazir, LJ Bruce Frontiers in physiology 5, 214, 2014 58 2014 Tropical distal renal tubular acidosis: clinical and epidemiological studies in 78 patients S Khositseth [scholar.google.com]

Nathan and Oski’s is the only comprehensive product on the market that relates pathophysiology in such depth to hematologic and oncologic diseases affecting children. [books.google.com]

From basic science and pathophysiology to clinical best practices, Brenner & Rector’s The Kidney is your go-to resource for any stage of your career. [books.google.ro]

The primary defect is in the anion transporter, band 3 (see section on "Pathophysiology"). [cancertherapyadvisor.com]

PK deficiency -enzyme that keep Hb iron in the reduces, physiologically active ferrous state for O2 transport and to protect Hb from oxidative damage -provides the only means of generating the reduced form of nicotanamide, NADPH Pathophysiology of G6PD [quizlet.com]

Describe the pathophysiology and treatment of respiratory distress syndrome. 2. Compare and contrast the different types of fetal lung maturity tests and discuss their clinical utility. 3. [cscc.ca]

Rapidly find the answers you need with separate sections on diseases and disorders, differential diagnosis, clinical algorithms, laboratory results, and clinical preventive services, plus an at-a-glance format that uses cross-references, outlines, bullets [books.google.com]

Immediate recognition and appropriate interpretation of pseudohyperkalemia, on the other hand, prevents misdiagnosis and unnecessary intervention. [tandfonline.com]