Presentation
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]
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]
Of note, both patients presented as blood donors, and increased cold-induced potassium leak was demonstrated. [ash.confex.com]
OMIM : 57 'Familial pseudohyperkalemia' (PSHK) is a term that was coined to describe conditions in which a patient presents with pseudohyperkalemia as a result of a temperature-based abnormality in the transport of potassium (K) and sodium (Na) across [malacards.org]
Gastrointestinal
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Food Poisoning
Protection FP Function Point FP French Polynesia FP Firepower (weaponry) FP Fuel Pressure FP Frame Pointer (register) FP Focal Plane FP Financial Products FP Folkpartiet Liberalerna (Swedish political party) FP Force Protection FP Fire Prevention FP Food [acronyms.thefreedictionary.com]
Musculoskeletal
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Long Arm
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]
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]
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]
Neurologic
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Meningism
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Levin MOLLARET'S meningitis is a rare disease characterized by recurrent, self-limited episodes of aseptic meningitis. 1 Signs and symptoms of meningeal irritation appear acutely, in association with fever and pleocytosis of mononuclear cells. [nejm.org]
Workup
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]
Serum
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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]
Microbiology
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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]
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Candida
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Treatment
Management and treatment No treatment is required. [orpha.net]
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Prognosis
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
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]
Epidemiology
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 64 2014 Tropical distal renal tubular acidosis: clinical and epidemiological studies in 78 patients S Khositseth [scholar.google.com]
Pathophysiology
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Balances summaries of relevant pathophysiology with clear, practical clinical guidance to help you thoroughly understand the underlying science of diseases. [books.google.ro]
The primary defect is in the anion transporter, band 3 (see section on "Pathophysiology"). [cancertherapyadvisor.com]
Prevention
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